Incidental Mutation 'R4809:Fn1'
ID |
426226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fn1
|
Ensembl Gene |
ENSMUSG00000026193 |
Gene Name |
fibronectin 1 |
Synonyms |
Fn-1, Fn |
MMRRC Submission |
042428-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4809 (G1)
|
Quality Score |
130 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
71585520-71653200 bp(-) (GRCm38) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 71652800 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055226]
[ENSMUST00000186129]
[ENSMUST00000186736]
[ENSMUST00000186940]
[ENSMUST00000187938]
[ENSMUST00000188674]
[ENSMUST00000188894]
[ENSMUST00000189821]
[ENSMUST00000190780]
|
AlphaFold |
P11276 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055226
|
SMART Domains |
Protein: ENSMUSP00000054499 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1264 |
1346 |
4.22e-9 |
SMART |
FN3
|
1357 |
1437 |
9.6e-13 |
SMART |
FN3
|
1448 |
1527 |
1.82e-13 |
SMART |
FN3
|
1538 |
1617 |
6.69e-12 |
SMART |
FN3
|
1632 |
1711 |
2.72e-12 |
SMART |
FN3
|
1722 |
1801 |
8.9e-8 |
SMART |
FN3
|
1812 |
1891 |
1.66e-7 |
SMART |
FN3
|
1904 |
1983 |
4.92e-10 |
SMART |
FN3
|
1993 |
2074 |
3.64e-13 |
SMART |
low complexity region
|
2148 |
2165 |
N/A |
INTRINSIC |
FN3
|
2193 |
2272 |
2.9e0 |
SMART |
FN1
|
2296 |
2340 |
3.72e-19 |
SMART |
FN1
|
2341 |
2383 |
2.49e-20 |
SMART |
FN1
|
2385 |
2425 |
2.69e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097699
|
SMART Domains |
Protein: ENSMUSP00000095305 Gene: ENSMUSG00000073652
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
67 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127218
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186129
|
SMART Domains |
Protein: ENSMUSP00000141123 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
1.66e-7 |
SMART |
FN3
|
1723 |
1802 |
4.92e-10 |
SMART |
FN3
|
1812 |
1893 |
3.64e-13 |
SMART |
low complexity region
|
1967 |
1984 |
N/A |
INTRINSIC |
FN3
|
2012 |
2091 |
2.9e0 |
SMART |
FN1
|
2115 |
2159 |
3.72e-19 |
SMART |
FN1
|
2160 |
2202 |
2.49e-20 |
SMART |
FN1
|
2204 |
2244 |
2.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186736
|
SMART Domains |
Protein: ENSMUSP00000140372 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
FN1
|
53 |
96 |
3.3e-21 |
SMART |
FN1
|
98 |
142 |
1.7e-21 |
SMART |
Pfam:fn1
|
143 |
160 |
1.2e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186940
|
SMART Domains |
Protein: ENSMUSP00000140315 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
1.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187938
|
SMART Domains |
Protein: ENSMUSP00000140975 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
8.9e-8 |
SMART |
FN3
|
1721 |
1800 |
1.66e-7 |
SMART |
FN3
|
1813 |
1892 |
4.92e-10 |
SMART |
FN3
|
1902 |
1983 |
3.64e-13 |
SMART |
low complexity region
|
2032 |
2049 |
N/A |
INTRINSIC |
FN3
|
2077 |
2156 |
2.9e0 |
SMART |
FN1
|
2180 |
2224 |
3.72e-19 |
SMART |
FN1
|
2225 |
2267 |
2.49e-20 |
SMART |
FN1
|
2269 |
2309 |
2.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188674
|
SMART Domains |
Protein: ENSMUSP00000140907 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
8.9e-8 |
SMART |
FN3
|
1721 |
1800 |
1.66e-7 |
SMART |
FN3
|
1813 |
1892 |
4.92e-10 |
SMART |
FN3
|
1902 |
1981 |
6.79e-13 |
SMART |
FN3
|
1983 |
2061 |
1.01e1 |
SMART |
FN1
|
2085 |
2129 |
3.72e-19 |
SMART |
FN1
|
2130 |
2172 |
2.49e-20 |
SMART |
FN1
|
2174 |
2214 |
2.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188894
|
SMART Domains |
Protein: ENSMUSP00000140471 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
8.9e-8 |
SMART |
FN3
|
1721 |
1800 |
1.66e-7 |
SMART |
FN3
|
1813 |
1892 |
4.92e-10 |
SMART |
FN3
|
1902 |
1983 |
3.64e-13 |
SMART |
low complexity region
|
2057 |
2074 |
N/A |
INTRINSIC |
FN3
|
2102 |
2181 |
2.9e0 |
SMART |
FN1
|
2205 |
2249 |
3.72e-19 |
SMART |
FN1
|
2250 |
2292 |
2.49e-20 |
SMART |
FN1
|
2294 |
2334 |
2.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189821
|
SMART Domains |
Protein: ENSMUSP00000139702 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
1.66e-7 |
SMART |
FN3
|
1723 |
1802 |
4.92e-10 |
SMART |
FN3
|
1812 |
1891 |
6.79e-13 |
SMART |
FN3
|
1893 |
1971 |
1.01e1 |
SMART |
FN1
|
1995 |
2039 |
3.72e-19 |
SMART |
FN1
|
2040 |
2082 |
2.49e-20 |
SMART |
FN1
|
2084 |
2124 |
2.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190780
|
SMART Domains |
Protein: ENSMUSP00000140816 Gene: ENSMUSG00000026193
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
FN1
|
53 |
93 |
6.38e-18 |
SMART |
FN1
|
98 |
141 |
6.04e-19 |
SMART |
FN1
|
142 |
185 |
6.94e-19 |
SMART |
FN1
|
187 |
231 |
3.47e-19 |
SMART |
FN1
|
232 |
276 |
6.04e-19 |
SMART |
FN1
|
308 |
347 |
5.91e-13 |
SMART |
FN2
|
353 |
401 |
6.66e-30 |
SMART |
FN2
|
413 |
461 |
5.05e-30 |
SMART |
FN1
|
470 |
513 |
2.59e-18 |
SMART |
FN1
|
518 |
560 |
1.68e-17 |
SMART |
FN1
|
561 |
604 |
5.69e-15 |
SMART |
FN3
|
609 |
688 |
3.79e-2 |
SMART |
FN3
|
719 |
798 |
1.27e-3 |
SMART |
FN3
|
810 |
888 |
7.92e-14 |
SMART |
FN3
|
906 |
985 |
4.28e-10 |
SMART |
FN3
|
996 |
1074 |
2.53e-12 |
SMART |
FN3
|
1086 |
1160 |
1.31e-5 |
SMART |
FN3
|
1173 |
1255 |
1.13e-9 |
SMART |
FN3
|
1266 |
1346 |
9.6e-13 |
SMART |
FN3
|
1357 |
1436 |
1.82e-13 |
SMART |
FN3
|
1447 |
1526 |
6.69e-12 |
SMART |
FN3
|
1541 |
1620 |
2.72e-12 |
SMART |
FN3
|
1631 |
1710 |
1.66e-7 |
SMART |
FN3
|
1723 |
1802 |
4.92e-10 |
SMART |
FN3
|
1812 |
1893 |
3.64e-13 |
SMART |
low complexity region
|
1942 |
1959 |
N/A |
INTRINSIC |
FN3
|
1987 |
2066 |
2.9e0 |
SMART |
FN1
|
2090 |
2134 |
3.72e-19 |
SMART |
FN1
|
2135 |
2177 |
2.49e-20 |
SMART |
FN1
|
2179 |
2219 |
2.69e-16 |
SMART |
|
Meta Mutation Damage Score |
0.0898  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (96/100) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016] PHENOTYPE: Mutants are defective in mesodermal function. Null mutants are embryonic lethal with major patterning and organizational defects. Conditional mutants live and show increased neuronal apoptosis and susceptibility to induced cerebral ischemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,662,631 (GRCm38) |
V459A |
probably benign |
Het |
Abca12 |
C |
T |
1: 71,278,856 (GRCm38) |
A1840T |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,039,771 (GRCm38) |
M1R |
probably null |
Het |
Abl1 |
T |
C |
2: 31,800,242 (GRCm38) |
L572P |
probably damaging |
Het |
Adamts2 |
C |
A |
11: 50,803,690 (GRCm38) |
S1101R |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,110,479 (GRCm38) |
W200* |
probably null |
Het |
AI661453 |
C |
A |
17: 47,467,187 (GRCm38) |
|
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,506,632 (GRCm38) |
F438S |
probably damaging |
Het |
Ankrd49 |
G |
A |
9: 14,781,214 (GRCm38) |
T218I |
possibly damaging |
Het |
Ano7 |
T |
C |
1: 93,394,566 (GRCm38) |
F410L |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,266,649 (GRCm38) |
F1271I |
probably damaging |
Het |
Aqr |
T |
C |
2: 114,175,214 (GRCm38) |
|
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,180,117 (GRCm38) |
S54P |
probably damaging |
Het |
Aunip |
C |
A |
4: 134,511,139 (GRCm38) |
D16E |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,793,744 (GRCm38) |
|
probably null |
Het |
Cabp4 |
T |
C |
19: 4,139,291 (GRCm38) |
H89R |
probably benign |
Het |
Ccni |
AAA |
AAACTAA |
5: 93,187,570 (GRCm38) |
|
probably benign |
Het |
Chfr |
C |
T |
5: 110,158,834 (GRCm38) |
H410Y |
probably damaging |
Het |
Churc1 |
C |
A |
12: 76,782,897 (GRCm38) |
L111M |
probably damaging |
Het |
Clasp1 |
C |
T |
1: 118,461,250 (GRCm38) |
T113I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,693,567 (GRCm38) |
Q745L |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,998,661 (GRCm38) |
L537P |
probably damaging |
Het |
Creb5 |
A |
T |
6: 53,610,426 (GRCm38) |
E47V |
probably null |
Het |
Csnk1d |
A |
T |
11: 120,963,842 (GRCm38) |
|
probably benign |
Het |
Cts6 |
A |
T |
13: 61,202,181 (GRCm38) |
W29R |
probably damaging |
Het |
Dbt |
T |
A |
3: 116,546,343 (GRCm38) |
I420N |
probably damaging |
Het |
Det1 |
C |
A |
7: 78,843,807 (GRCm38) |
D150Y |
probably damaging |
Het |
Dlk2 |
A |
G |
17: 46,299,014 (GRCm38) |
|
probably null |
Het |
Dnmt3a |
A |
T |
12: 3,900,352 (GRCm38) |
I639F |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,546,596 (GRCm38) |
Y1989N |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,466,621 (GRCm38) |
T765S |
possibly damaging |
Het |
Entrep2 |
G |
A |
7: 64,776,740 (GRCm38) |
T159I |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,105,891 (GRCm38) |
D548N |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 126,116,125 (GRCm38) |
Y240F |
possibly damaging |
Het |
Fbxw21 |
C |
T |
9: 109,143,390 (GRCm38) |
V395I |
probably damaging |
Het |
Fpr-rs3 |
A |
T |
17: 20,624,421 (GRCm38) |
S153T |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,653,895 (GRCm38) |
F1064L |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,430,958 (GRCm38) |
|
probably benign |
Het |
Gjd2 |
C |
T |
2: 114,011,541 (GRCm38) |
G152R |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,892,154 (GRCm38) |
I353T |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,451,436 (GRCm38) |
V145A |
possibly damaging |
Het |
Igkv4-73 |
G |
A |
6: 69,197,823 (GRCm38) |
R40W |
unknown |
Het |
Kif1c |
C |
T |
11: 70,726,357 (GRCm38) |
A839V |
probably benign |
Het |
Krt31 |
G |
A |
11: 100,049,922 (GRCm38) |
A125V |
possibly damaging |
Het |
Lamb1 |
A |
G |
12: 31,278,526 (GRCm38) |
Y163C |
probably damaging |
Het |
Mars1 |
G |
T |
10: 127,300,215 (GRCm38) |
T535K |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 35,849,101 (GRCm38) |
|
probably null |
Het |
Micos10 |
C |
G |
4: 139,130,957 (GRCm38) |
W10S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,740,822 (GRCm38) |
H167Y |
probably benign |
Het |
Mrgprb1 |
C |
T |
7: 48,447,991 (GRCm38) |
V58I |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,771,762 (GRCm38) |
E6V |
possibly damaging |
Het |
Nectin3 |
A |
C |
16: 46,448,160 (GRCm38) |
|
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,611,074 (GRCm38) |
K295E |
probably damaging |
Het |
Or4k44 |
C |
T |
2: 111,537,611 (GRCm38) |
C226Y |
probably benign |
Het |
Or52ab7 |
T |
A |
7: 103,328,523 (GRCm38) |
Y12* |
probably null |
Het |
Or8k38 |
T |
A |
2: 86,657,685 (GRCm38) |
M258L |
possibly damaging |
Het |
Pex16 |
T |
C |
2: 92,376,638 (GRCm38) |
S54P |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,204,081 (GRCm38) |
S636T |
possibly damaging |
Het |
Plin5 |
A |
G |
17: 56,116,855 (GRCm38) |
S27P |
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,513,708 (GRCm38) |
D1068E |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,563,175 (GRCm38) |
T1960A |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,407,974 (GRCm38) |
|
probably benign |
Het |
Rcc2 |
G |
A |
4: 140,717,042 (GRCm38) |
R348Q |
probably damaging |
Het |
Rhbdd3 |
C |
A |
11: 5,105,949 (GRCm38) |
A377D |
probably damaging |
Het |
Rpl7 |
T |
G |
1: 16,101,965 (GRCm38) |
|
probably benign |
Het |
Scn11a |
G |
T |
9: 119,819,870 (GRCm38) |
D42E |
probably benign |
Het |
Scube3 |
C |
T |
17: 28,165,173 (GRCm38) |
R549W |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,325,375 (GRCm38) |
M189K |
probably damaging |
Het |
Slc39a6 |
G |
A |
18: 24,585,474 (GRCm38) |
Q225* |
probably null |
Het |
Slc7a15 |
A |
T |
12: 8,539,002 (GRCm38) |
C182S |
probably benign |
Het |
Spata21 |
G |
A |
4: 141,097,120 (GRCm38) |
|
probably null |
Het |
Stim2 |
T |
C |
5: 54,110,613 (GRCm38) |
V417A |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,388,985 (GRCm38) |
D993G |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,402,946 (GRCm38) |
S747P |
probably benign |
Het |
Tmem86a |
C |
G |
7: 47,052,930 (GRCm38) |
S34R |
possibly damaging |
Het |
Top2b |
T |
A |
14: 16,383,125 (GRCm38) |
S38T |
probably benign |
Het |
Trim33 |
A |
T |
3: 103,329,256 (GRCm38) |
T561S |
possibly damaging |
Het |
Ttc39a |
C |
T |
4: 109,416,021 (GRCm38) |
Q25* |
probably null |
Het |
Urb1 |
A |
G |
16: 90,759,842 (GRCm38) |
I1816T |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,413,676 (GRCm38) |
|
probably null |
Het |
Usp36 |
A |
C |
11: 118,263,070 (GRCm38) |
L840R |
probably damaging |
Het |
Usp50 |
C |
A |
2: 126,777,853 (GRCm38) |
|
probably benign |
Het |
Vangl2 |
A |
G |
1: 172,009,663 (GRCm38) |
V193A |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,675,867 (GRCm38) |
H182Q |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,073,745 (GRCm38) |
Y698F |
probably benign |
Het |
Wls |
C |
T |
3: 159,897,445 (GRCm38) |
T165I |
probably benign |
Het |
Zfp808 |
G |
T |
13: 62,171,292 (GRCm38) |
E112* |
probably null |
Het |
|
Other mutations in Fn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Fn1
|
APN |
1 |
71,652,873 (GRCm38) |
missense |
probably benign |
0.28 |
IGL00402:Fn1
|
APN |
1 |
71,641,163 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00946:Fn1
|
APN |
1 |
71,645,540 (GRCm38) |
splice site |
probably benign |
|
IGL01311:Fn1
|
APN |
1 |
71,628,140 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01338:Fn1
|
APN |
1 |
71,626,210 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL01353:Fn1
|
APN |
1 |
71,586,939 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01674:Fn1
|
APN |
1 |
71,606,741 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01701:Fn1
|
APN |
1 |
71,629,853 (GRCm38) |
splice site |
probably benign |
|
IGL01734:Fn1
|
APN |
1 |
71,619,485 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01788:Fn1
|
APN |
1 |
71,613,837 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02186:Fn1
|
APN |
1 |
71,638,534 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02398:Fn1
|
APN |
1 |
71,618,670 (GRCm38) |
splice site |
probably null |
|
IGL02425:Fn1
|
APN |
1 |
71,641,143 (GRCm38) |
splice site |
probably benign |
|
IGL02516:Fn1
|
APN |
1 |
71,637,323 (GRCm38) |
missense |
possibly damaging |
0.78 |
IGL02593:Fn1
|
APN |
1 |
71,602,432 (GRCm38) |
missense |
probably benign |
|
IGL02651:Fn1
|
APN |
1 |
71,597,676 (GRCm38) |
missense |
possibly damaging |
0.65 |
IGL02681:Fn1
|
APN |
1 |
71,619,482 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02890:Fn1
|
APN |
1 |
71,598,372 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02929:Fn1
|
APN |
1 |
71,595,662 (GRCm38) |
critical splice donor site |
probably null |
|
IGL03036:Fn1
|
APN |
1 |
71,629,773 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03088:Fn1
|
APN |
1 |
71,614,038 (GRCm38) |
splice site |
probably null |
|
IGL03142:Fn1
|
APN |
1 |
71,637,296 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03172:Fn1
|
APN |
1 |
71,641,262 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03184:Fn1
|
APN |
1 |
71,609,497 (GRCm38) |
missense |
probably benign |
0.02 |
IGL03212:Fn1
|
APN |
1 |
71,641,325 (GRCm38) |
nonsense |
probably null |
|
IGL03246:Fn1
|
APN |
1 |
71,624,296 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL03367:Fn1
|
APN |
1 |
71,597,553 (GRCm38) |
missense |
probably benign |
0.27 |
depth
|
UTSW |
1 |
71,607,913 (GRCm38) |
missense |
probably damaging |
1.00 |
flooded
|
UTSW |
1 |
71,597,516 (GRCm38) |
missense |
probably benign |
0.01 |
R0684_Fn1_062
|
UTSW |
1 |
71,595,809 (GRCm38) |
splice site |
probably null |
|
series
|
UTSW |
1 |
71,595,786 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4514001:Fn1
|
UTSW |
1 |
71,628,456 (GRCm38) |
missense |
probably benign |
0.01 |
R0008:Fn1
|
UTSW |
1 |
71,595,720 (GRCm38) |
missense |
probably damaging |
0.98 |
R0112:Fn1
|
UTSW |
1 |
71,609,653 (GRCm38) |
missense |
probably damaging |
1.00 |
R0138:Fn1
|
UTSW |
1 |
71,624,110 (GRCm38) |
missense |
possibly damaging |
0.82 |
R0383:Fn1
|
UTSW |
1 |
71,597,685 (GRCm38) |
missense |
probably damaging |
0.99 |
R0386:Fn1
|
UTSW |
1 |
71,595,786 (GRCm38) |
missense |
probably damaging |
1.00 |
R0648:Fn1
|
UTSW |
1 |
71,597,585 (GRCm38) |
missense |
possibly damaging |
0.79 |
R0684:Fn1
|
UTSW |
1 |
71,595,809 (GRCm38) |
splice site |
probably null |
|
R1054:Fn1
|
UTSW |
1 |
71,586,214 (GRCm38) |
makesense |
probably null |
|
R1183:Fn1
|
UTSW |
1 |
71,586,245 (GRCm38) |
missense |
probably damaging |
0.98 |
R1405:Fn1
|
UTSW |
1 |
71,642,078 (GRCm38) |
missense |
probably damaging |
1.00 |
R1405:Fn1
|
UTSW |
1 |
71,642,078 (GRCm38) |
missense |
probably damaging |
1.00 |
R1414:Fn1
|
UTSW |
1 |
71,601,303 (GRCm38) |
splice site |
probably benign |
|
R1677:Fn1
|
UTSW |
1 |
71,597,655 (GRCm38) |
missense |
probably benign |
0.00 |
R1773:Fn1
|
UTSW |
1 |
71,637,383 (GRCm38) |
missense |
probably damaging |
1.00 |
R1830:Fn1
|
UTSW |
1 |
71,624,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R1987:Fn1
|
UTSW |
1 |
71,651,625 (GRCm38) |
missense |
probably damaging |
1.00 |
R1989:Fn1
|
UTSW |
1 |
71,651,625 (GRCm38) |
missense |
probably damaging |
1.00 |
R2068:Fn1
|
UTSW |
1 |
71,600,439 (GRCm38) |
missense |
probably damaging |
1.00 |
R2113:Fn1
|
UTSW |
1 |
71,626,164 (GRCm38) |
missense |
probably damaging |
1.00 |
R2145:Fn1
|
UTSW |
1 |
71,606,004 (GRCm38) |
missense |
probably damaging |
1.00 |
R2246:Fn1
|
UTSW |
1 |
71,628,535 (GRCm38) |
missense |
probably benign |
0.10 |
R2273:Fn1
|
UTSW |
1 |
71,613,943 (GRCm38) |
missense |
probably null |
1.00 |
R2274:Fn1
|
UTSW |
1 |
71,613,943 (GRCm38) |
missense |
probably null |
1.00 |
R2275:Fn1
|
UTSW |
1 |
71,613,943 (GRCm38) |
missense |
probably null |
1.00 |
R2303:Fn1
|
UTSW |
1 |
71,614,036 (GRCm38) |
critical splice acceptor site |
probably null |
|
R2379:Fn1
|
UTSW |
1 |
71,649,284 (GRCm38) |
nonsense |
probably null |
|
R2382:Fn1
|
UTSW |
1 |
71,648,119 (GRCm38) |
missense |
probably damaging |
1.00 |
R2567:Fn1
|
UTSW |
1 |
71,597,736 (GRCm38) |
nonsense |
probably null |
|
R2864:Fn1
|
UTSW |
1 |
71,602,419 (GRCm38) |
missense |
probably damaging |
0.99 |
R3154:Fn1
|
UTSW |
1 |
71,593,083 (GRCm38) |
missense |
probably damaging |
1.00 |
R3837:Fn1
|
UTSW |
1 |
71,653,155 (GRCm38) |
splice site |
probably null |
|
R3844:Fn1
|
UTSW |
1 |
71,609,574 (GRCm38) |
missense |
possibly damaging |
0.61 |
R3886:Fn1
|
UTSW |
1 |
71,640,306 (GRCm38) |
missense |
probably damaging |
1.00 |
R3887:Fn1
|
UTSW |
1 |
71,640,306 (GRCm38) |
missense |
probably damaging |
1.00 |
R3888:Fn1
|
UTSW |
1 |
71,640,306 (GRCm38) |
missense |
probably damaging |
1.00 |
R3889:Fn1
|
UTSW |
1 |
71,640,306 (GRCm38) |
missense |
probably damaging |
1.00 |
R3905:Fn1
|
UTSW |
1 |
71,607,913 (GRCm38) |
missense |
probably damaging |
1.00 |
R3906:Fn1
|
UTSW |
1 |
71,607,913 (GRCm38) |
missense |
probably damaging |
1.00 |
R3907:Fn1
|
UTSW |
1 |
71,607,913 (GRCm38) |
missense |
probably damaging |
1.00 |
R3909:Fn1
|
UTSW |
1 |
71,607,913 (GRCm38) |
missense |
probably damaging |
1.00 |
R4611:Fn1
|
UTSW |
1 |
71,624,178 (GRCm38) |
nonsense |
probably null |
|
R4724:Fn1
|
UTSW |
1 |
71,648,148 (GRCm38) |
critical splice acceptor site |
probably null |
|
R4732:Fn1
|
UTSW |
1 |
71,602,512 (GRCm38) |
splice site |
probably null |
|
R4733:Fn1
|
UTSW |
1 |
71,602,512 (GRCm38) |
splice site |
probably null |
|
R4756:Fn1
|
UTSW |
1 |
71,590,808 (GRCm38) |
missense |
probably damaging |
1.00 |
R4839:Fn1
|
UTSW |
1 |
71,642,083 (GRCm38) |
missense |
probably damaging |
1.00 |
R4915:Fn1
|
UTSW |
1 |
71,595,809 (GRCm38) |
splice site |
probably null |
|
R4917:Fn1
|
UTSW |
1 |
71,595,809 (GRCm38) |
splice site |
probably null |
|
R4918:Fn1
|
UTSW |
1 |
71,595,809 (GRCm38) |
splice site |
probably null |
|
R5002:Fn1
|
UTSW |
1 |
71,629,728 (GRCm38) |
missense |
possibly damaging |
0.48 |
R5015:Fn1
|
UTSW |
1 |
71,626,177 (GRCm38) |
missense |
probably damaging |
0.98 |
R5022:Fn1
|
UTSW |
1 |
71,624,179 (GRCm38) |
missense |
probably damaging |
1.00 |
R5109:Fn1
|
UTSW |
1 |
71,649,235 (GRCm38) |
missense |
probably damaging |
1.00 |
R5267:Fn1
|
UTSW |
1 |
71,629,704 (GRCm38) |
missense |
probably damaging |
1.00 |
R5323:Fn1
|
UTSW |
1 |
71,597,432 (GRCm38) |
missense |
probably benign |
0.09 |
R5333:Fn1
|
UTSW |
1 |
71,624,180 (GRCm38) |
missense |
probably damaging |
1.00 |
R5631:Fn1
|
UTSW |
1 |
71,590,196 (GRCm38) |
missense |
probably damaging |
1.00 |
R5644:Fn1
|
UTSW |
1 |
71,627,250 (GRCm38) |
missense |
probably damaging |
1.00 |
R5754:Fn1
|
UTSW |
1 |
71,600,322 (GRCm38) |
missense |
probably damaging |
1.00 |
R5807:Fn1
|
UTSW |
1 |
71,648,059 (GRCm38) |
missense |
probably damaging |
1.00 |
R6053:Fn1
|
UTSW |
1 |
71,599,290 (GRCm38) |
missense |
probably damaging |
1.00 |
R6133:Fn1
|
UTSW |
1 |
71,597,727 (GRCm38) |
missense |
probably damaging |
1.00 |
R6186:Fn1
|
UTSW |
1 |
71,637,290 (GRCm38) |
missense |
probably damaging |
1.00 |
R6270:Fn1
|
UTSW |
1 |
71,637,275 (GRCm38) |
missense |
probably damaging |
1.00 |
R6332:Fn1
|
UTSW |
1 |
71,628,071 (GRCm38) |
missense |
probably benign |
0.01 |
R6431:Fn1
|
UTSW |
1 |
71,647,844 (GRCm38) |
splice site |
probably null |
|
R6571:Fn1
|
UTSW |
1 |
71,626,190 (GRCm38) |
missense |
probably damaging |
1.00 |
R6596:Fn1
|
UTSW |
1 |
71,609,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R6862:Fn1
|
UTSW |
1 |
71,613,907 (GRCm38) |
missense |
probably benign |
0.43 |
R6898:Fn1
|
UTSW |
1 |
71,600,413 (GRCm38) |
missense |
probably damaging |
1.00 |
R6984:Fn1
|
UTSW |
1 |
71,626,079 (GRCm38) |
missense |
probably damaging |
1.00 |
R7107:Fn1
|
UTSW |
1 |
71,627,249 (GRCm38) |
missense |
probably damaging |
1.00 |
R7121:Fn1
|
UTSW |
1 |
71,600,538 (GRCm38) |
intron |
probably benign |
|
R7127:Fn1
|
UTSW |
1 |
71,597,544 (GRCm38) |
missense |
probably benign |
0.16 |
R7194:Fn1
|
UTSW |
1 |
71,602,323 (GRCm38) |
missense |
probably damaging |
1.00 |
R7274:Fn1
|
UTSW |
1 |
71,628,113 (GRCm38) |
missense |
probably benign |
|
R7285:Fn1
|
UTSW |
1 |
71,637,339 (GRCm38) |
missense |
probably damaging |
1.00 |
R7426:Fn1
|
UTSW |
1 |
71,649,225 (GRCm38) |
missense |
probably damaging |
1.00 |
R7453:Fn1
|
UTSW |
1 |
71,590,880 (GRCm38) |
missense |
probably damaging |
1.00 |
R7508:Fn1
|
UTSW |
1 |
71,597,516 (GRCm38) |
missense |
probably benign |
0.01 |
R7724:Fn1
|
UTSW |
1 |
71,603,735 (GRCm38) |
missense |
probably benign |
0.02 |
R7848:Fn1
|
UTSW |
1 |
71,650,601 (GRCm38) |
missense |
probably damaging |
1.00 |
R7992:Fn1
|
UTSW |
1 |
71,599,666 (GRCm38) |
missense |
probably benign |
0.34 |
R8036:Fn1
|
UTSW |
1 |
71,590,151 (GRCm38) |
nonsense |
probably null |
|
R8077:Fn1
|
UTSW |
1 |
71,612,602 (GRCm38) |
missense |
probably damaging |
1.00 |
R8175:Fn1
|
UTSW |
1 |
71,599,665 (GRCm38) |
missense |
probably damaging |
1.00 |
R8177:Fn1
|
UTSW |
1 |
71,609,587 (GRCm38) |
missense |
probably benign |
|
R8212:Fn1
|
UTSW |
1 |
71,642,905 (GRCm38) |
missense |
probably benign |
0.01 |
R8322:Fn1
|
UTSW |
1 |
71,628,459 (GRCm38) |
missense |
probably benign |
0.04 |
R8745:Fn1
|
UTSW |
1 |
71,637,369 (GRCm38) |
missense |
probably benign |
0.00 |
R8780:Fn1
|
UTSW |
1 |
71,643,149 (GRCm38) |
missense |
probably benign |
0.00 |
R8805:Fn1
|
UTSW |
1 |
71,605,080 (GRCm38) |
missense |
probably benign |
0.27 |
R8927:Fn1
|
UTSW |
1 |
71,599,376 (GRCm38) |
missense |
probably benign |
0.16 |
R8928:Fn1
|
UTSW |
1 |
71,599,376 (GRCm38) |
missense |
probably benign |
0.16 |
R8928:Fn1
|
UTSW |
1 |
71,602,618 (GRCm38) |
intron |
probably benign |
|
R8989:Fn1
|
UTSW |
1 |
71,624,287 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8991:Fn1
|
UTSW |
1 |
71,637,332 (GRCm38) |
missense |
probably benign |
0.05 |
R9095:Fn1
|
UTSW |
1 |
71,607,990 (GRCm38) |
missense |
probably null |
0.02 |
R9455:Fn1
|
UTSW |
1 |
71,607,953 (GRCm38) |
missense |
probably benign |
|
R9589:Fn1
|
UTSW |
1 |
71,629,782 (GRCm38) |
missense |
probably damaging |
1.00 |
R9631:Fn1
|
UTSW |
1 |
71,586,228 (GRCm38) |
missense |
probably benign |
0.01 |
R9645:Fn1
|
UTSW |
1 |
71,628,470 (GRCm38) |
missense |
probably benign |
0.35 |
R9723:Fn1
|
UTSW |
1 |
71,624,210 (GRCm38) |
missense |
possibly damaging |
0.95 |
X0023:Fn1
|
UTSW |
1 |
71,598,373 (GRCm38) |
critical splice donor site |
probably null |
|
Z1088:Fn1
|
UTSW |
1 |
71,649,292 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Fn1
|
UTSW |
1 |
71,597,411 (GRCm38) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATTTGTTAGCGCACTTGAG -3'
(R):5'- ACTCAAGATGCTCAGGGGTC -3'
Sequencing Primer
(F):5'- GGAAGAACAGACGGTCCCTAC -3'
(R):5'- GCTCAGGGGTCCGGGAC -3'
|
Posted On |
2016-08-25 |