Incidental Mutation 'IGL03212:Fn1'
| ID | 413356 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Fn1
|
|---|
| Ensembl Gene |
ENSMUSG00000026193 |
|---|
| Gene Name | fibronectin 1 |
|---|
| Synonyms | Fn-1, Fn |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | IGL03212
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 1 |
|---|
| Chromosomal Location | 71585520-71653200 bp(-) (GRCm38) |
|---|
| Type of Mutation | nonsense |
|---|
| DNA Base Change (assembly) |
A to T
at 71641325 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Leucine to Stop codon
at position 407
(L407*)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140816
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055226]
[ENSMUST00000186129]
[ENSMUST00000186736]
[ENSMUST00000186940]
[ENSMUST00000187938]
[ENSMUST00000188674]
[ENSMUST00000188894]
[ENSMUST00000189821]
[ENSMUST00000190780]
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055226
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000054499
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 |
probably null
Transcript: ENSMUST00000186129
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141123
Gene: ENSMUSG00000026193
AA Change: L407*
| 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: ENSMUST00000186613
|
|---|
| 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 null
Transcript: ENSMUST00000187938
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140975
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 null
Transcript: ENSMUST00000188674
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140907
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 null
Transcript: ENSMUST00000188894
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140471
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 null
Transcript: ENSMUST00000189821
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139702
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 null
Transcript: ENSMUST00000190780
AA Change: L407*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140816
Gene: ENSMUSG00000026193
AA Change: L407*
| 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 |
|
|---|
| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
|---|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,202,926 |
S657P |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,445,267 |
N221I |
probably damaging |
Het |
| Atp5h |
G |
T |
11: 115,415,771 |
H155N |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,411,442 |
N316K |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,930,677 |
M1861K |
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,657,849 |
|
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,974,452 |
P2169Q |
unknown |
Het |
| Cyp2j5 |
G |
T |
4: 96,663,818 |
H65N |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,290,163 |
V1233A |
probably benign |
Het |
| Fpr-rs3 |
T |
C |
17: 20,623,859 |
D340G |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,650,769 |
G193E |
possibly damaging |
Het |
| Glmp |
T |
C |
3: 88,328,357 |
S317P |
probably benign |
Het |
| Gm15448 |
T |
A |
7: 3,823,133 |
Q287L |
probably benign |
Het |
| Gm5581 |
A |
T |
6: 131,181,450 |
|
noncoding transcript |
Het |
| Gm5624 |
A |
T |
14: 44,560,710 |
N103K |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,355,028 |
F98S |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,279,942 |
V104A |
probably damaging |
Het |
| Igkv4-79 |
A |
C |
6: 69,043,230 |
S34A |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,328,165 |
P1532S |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,827,820 |
K490R |
unknown |
Het |
| Olfr1176 |
T |
A |
2: 88,339,672 |
Y36N |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,331,903 |
T1198S |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,510,425 |
D367G |
probably damaging |
Het |
| Rbm28 |
G |
T |
6: 29,131,275 |
R10S |
probably damaging |
Het |
| Rdh10 |
T |
G |
1: 16,107,827 |
C108G |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,619,161 |
T1211K |
probably benign |
Het |
| Slc24a5 |
C |
A |
2: 125,080,830 |
T141N |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 80,711,781 |
N642I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,443,891 |
R344L |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,538,518 |
I355N |
probably damaging |
Het |
| Tram1l1 |
G |
A |
3: 124,321,914 |
G241D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,409,763 |
T982A |
probably benign |
Het |
| Vmn2r52 |
T |
G |
7: 10,159,547 |
H555P |
possibly damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,454,274 |
M313K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 21,929,464 |
Y61* |
probably null |
Het |
|
|---|
| Other mutations in Fn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Fn1
|
APN |
1 |
71652873 |
missense |
probably benign |
0.28 |
|
IGL00402:Fn1
|
APN |
1 |
71641163 |
missense |
probably damaging |
1.00 |
|
IGL00946:Fn1
|
APN |
1 |
71645540 |
splice site |
probably benign |
|
|
IGL01311:Fn1
|
APN |
1 |
71628140 |
missense |
probably damaging |
1.00 |
|
IGL01338:Fn1
|
APN |
1 |
71626210 |
missense |
probably damaging |
0.98 |
|
IGL01353:Fn1
|
APN |
1 |
71586939 |
missense |
probably damaging |
1.00 |
|
IGL01674:Fn1
|
APN |
1 |
71606741 |
missense |
probably damaging |
1.00 |
|
IGL01701:Fn1
|
APN |
1 |
71629853 |
splice site |
probably benign |
|
|
IGL01734:Fn1
|
APN |
1 |
71619485 |
missense |
probably damaging |
1.00 |
|
IGL01788:Fn1
|
APN |
1 |
71613837 |
missense |
probably damaging |
1.00 |
|
IGL02186:Fn1
|
APN |
1 |
71638534 |
missense |
probably damaging |
1.00 |
|
IGL02398:Fn1
|
APN |
1 |
71618670 |
splice site |
probably null |
|
|
IGL02425:Fn1
|
APN |
1 |
71641143 |
splice site |
probably benign |
|
|
IGL02516:Fn1
|
APN |
1 |
71637323 |
missense |
possibly damaging |
0.78 |
|
IGL02593:Fn1
|
APN |
1 |
71602432 |
missense |
probably benign |
|
|
IGL02651:Fn1
|
APN |
1 |
71597676 |
missense |
possibly damaging |
0.65 |
|
IGL02681:Fn1
|
APN |
1 |
71619482 |
missense |
probably damaging |
1.00 |
|
IGL02890:Fn1
|
APN |
1 |
71598372 |
critical splice donor site |
probably null |
|
|
IGL02929:Fn1
|
APN |
1 |
71595662 |
critical splice donor site |
probably null |
|
|
IGL03036:Fn1
|
APN |
1 |
71629773 |
missense |
probably damaging |
1.00 |
|
IGL03088:Fn1
|
APN |
1 |
71614038 |
splice site |
probably null |
|
|
IGL03142:Fn1
|
APN |
1 |
71637296 |
missense |
probably damaging |
1.00 |
|
IGL03172:Fn1
|
APN |
1 |
71641262 |
missense |
probably damaging |
0.99 |
|
IGL03184:Fn1
|
APN |
1 |
71609497 |
missense |
probably benign |
0.02 |
|
IGL03246:Fn1
|
APN |
1 |
71624296 |
missense |
possibly damaging |
0.89 |
|
IGL03367:Fn1
|
APN |
1 |
71597553 |
missense |
probably benign |
0.27 |
|
PIT4514001:Fn1
|
UTSW |
1 |
71628456 |
missense |
probably benign |
0.01 |
|
R0008:Fn1
|
UTSW |
1 |
71595720 |
missense |
probably damaging |
0.98 |
|
R0112:Fn1
|
UTSW |
1 |
71609653 |
missense |
probably damaging |
1.00 |
|
R0138:Fn1
|
UTSW |
1 |
71624110 |
missense |
possibly damaging |
0.82 |
|
R0383:Fn1
|
UTSW |
1 |
71597685 |
missense |
probably damaging |
0.99 |
|
R0386:Fn1
|
UTSW |
1 |
71595786 |
missense |
probably damaging |
1.00 |
|
R0648:Fn1
|
UTSW |
1 |
71597585 |
missense |
possibly damaging |
0.79 |
|
R0684:Fn1
|
UTSW |
1 |
71595809 |
splice site |
probably null |
|
|
R1054:Fn1
|
UTSW |
1 |
71586214 |
makesense |
probably null |
|
|
R1183:Fn1
|
UTSW |
1 |
71586245 |
missense |
probably damaging |
0.98 |
|
R1405:Fn1
|
UTSW |
1 |
71642078 |
missense |
probably damaging |
1.00 |
|
R1405:Fn1
|
UTSW |
1 |
71642078 |
missense |
probably damaging |
1.00 |
|
R1414:Fn1
|
UTSW |
1 |
71601303 |
splice site |
probably benign |
|
|
R1677:Fn1
|
UTSW |
1 |
71597655 |
missense |
probably benign |
0.00 |
|
R1773:Fn1
|
UTSW |
1 |
71637383 |
missense |
probably damaging |
1.00 |
|
R1830:Fn1
|
UTSW |
1 |
71624259 |
missense |
probably damaging |
1.00 |
|
R1987:Fn1
|
UTSW |
1 |
71651625 |
missense |
probably damaging |
1.00 |
|
R1989:Fn1
|
UTSW |
1 |
71651625 |
missense |
probably damaging |
1.00 |
|
R2068:Fn1
|
UTSW |
1 |
71600439 |
missense |
probably damaging |
1.00 |
|
R2113:Fn1
|
UTSW |
1 |
71626164 |
missense |
probably damaging |
1.00 |
|
R2145:Fn1
|
UTSW |
1 |
71606004 |
missense |
probably damaging |
1.00 |
|
R2246:Fn1
|
UTSW |
1 |
71628535 |
missense |
probably benign |
0.10 |
|
R2273:Fn1
|
UTSW |
1 |
71613943 |
missense |
probably null |
1.00 |
|
R2274:Fn1
|
UTSW |
1 |
71613943 |
missense |
probably null |
1.00 |
|
R2275:Fn1
|
UTSW |
1 |
71613943 |
missense |
probably null |
1.00 |
|
R2303:Fn1
|
UTSW |
1 |
71614036 |
critical splice acceptor site |
probably null |
|
|
R2379:Fn1
|
UTSW |
1 |
71649284 |
nonsense |
probably null |
|
|
R2382:Fn1
|
UTSW |
1 |
71648119 |
missense |
probably damaging |
1.00 |
|
R2567:Fn1
|
UTSW |
1 |
71597736 |
nonsense |
probably null |
|
|
R2864:Fn1
|
UTSW |
1 |
71602419 |
missense |
probably damaging |
0.99 |
|
R3154:Fn1
|
UTSW |
1 |
71593083 |
missense |
probably damaging |
1.00 |
|
R3837:Fn1
|
UTSW |
1 |
71653155 |
utr 5 prime |
probably null |
|
|
R3844:Fn1
|
UTSW |
1 |
71609574 |
missense |
possibly damaging |
0.61 |
|
R3886:Fn1
|
UTSW |
1 |
71640306 |
missense |
probably damaging |
1.00 |
|
R3887:Fn1
|
UTSW |
1 |
71640306 |
missense |
probably damaging |
1.00 |
|
R3888:Fn1
|
UTSW |
1 |
71640306 |
missense |
probably damaging |
1.00 |
|
R3889:Fn1
|
UTSW |
1 |
71640306 |
missense |
probably damaging |
1.00 |
|
R3905:Fn1
|
UTSW |
1 |
71607913 |
missense |
probably damaging |
1.00 |
|
R3906:Fn1
|
UTSW |
1 |
71607913 |
missense |
probably damaging |
1.00 |
|
R3907:Fn1
|
UTSW |
1 |
71607913 |
missense |
probably damaging |
1.00 |
|
R3909:Fn1
|
UTSW |
1 |
71607913 |
missense |
probably damaging |
1.00 |
|
R4611:Fn1
|
UTSW |
1 |
71624178 |
nonsense |
probably null |
|
|
R4724:Fn1
|
UTSW |
1 |
71648148 |
critical splice acceptor site |
probably null |
|
|
R4732:Fn1
|
UTSW |
1 |
71602512 |
splice site |
probably null |
|
|
R4733:Fn1
|
UTSW |
1 |
71602512 |
splice site |
probably null |
|
|
R4756:Fn1
|
UTSW |
1 |
71590808 |
missense |
probably damaging |
1.00 |
|
R4809:Fn1
|
UTSW |
1 |
71652800 |
intron |
probably benign |
|
|
R4839:Fn1
|
UTSW |
1 |
71642083 |
missense |
probably damaging |
1.00 |
|
R4915:Fn1
|
UTSW |
1 |
71595809 |
splice site |
probably null |
|
|
R4917:Fn1
|
UTSW |
1 |
71595809 |
splice site |
probably null |
|
|
R4918:Fn1
|
UTSW |
1 |
71595809 |
splice site |
probably null |
|
|
R5002:Fn1
|
UTSW |
1 |
71629728 |
missense |
possibly damaging |
0.48 |
|
R5015:Fn1
|
UTSW |
1 |
71626177 |
missense |
probably damaging |
0.98 |
|
R5022:Fn1
|
UTSW |
1 |
71624179 |
missense |
probably damaging |
1.00 |
|
R5109:Fn1
|
UTSW |
1 |
71649235 |
missense |
probably damaging |
1.00 |
|
R5267:Fn1
|
UTSW |
1 |
71629704 |
missense |
probably damaging |
1.00 |
|
R5323:Fn1
|
UTSW |
1 |
71597432 |
missense |
probably benign |
0.09 |
|
R5333:Fn1
|
UTSW |
1 |
71624180 |
missense |
probably damaging |
1.00 |
|
R5631:Fn1
|
UTSW |
1 |
71590196 |
missense |
probably damaging |
1.00 |
|
R5644:Fn1
|
UTSW |
1 |
71627250 |
missense |
probably damaging |
1.00 |
|
R5754:Fn1
|
UTSW |
1 |
71600322 |
missense |
probably damaging |
1.00 |
|
R5807:Fn1
|
UTSW |
1 |
71648059 |
missense |
probably damaging |
1.00 |
|
R6053:Fn1
|
UTSW |
1 |
71599290 |
missense |
probably damaging |
1.00 |
|
R6133:Fn1
|
UTSW |
1 |
71597727 |
missense |
probably damaging |
1.00 |
|
R6186:Fn1
|
UTSW |
1 |
71637290 |
missense |
probably damaging |
1.00 |
|
R6270:Fn1
|
UTSW |
1 |
71637275 |
missense |
probably damaging |
1.00 |
|
R6332:Fn1
|
UTSW |
1 |
71628071 |
missense |
probably benign |
0.01 |
|
R6431:Fn1
|
UTSW |
1 |
71647844 |
intron |
probably null |
|
|
R6571:Fn1
|
UTSW |
1 |
71626190 |
missense |
probably damaging |
1.00 |
|
R6596:Fn1
|
UTSW |
1 |
71609482 |
missense |
probably damaging |
1.00 |
|
R6862:Fn1
|
UTSW |
1 |
71613907 |
missense |
probably benign |
0.43 |
|
R6898:Fn1
|
UTSW |
1 |
71600413 |
missense |
probably damaging |
1.00 |
|
R6984:Fn1
|
UTSW |
1 |
71626079 |
missense |
probably damaging |
1.00 |
|
R7107:Fn1
|
UTSW |
1 |
71627249 |
missense |
probably damaging |
1.00 |
|
R7121:Fn1
|
UTSW |
1 |
71600538 |
intron |
probably benign |
|
|
R7127:Fn1
|
UTSW |
1 |
71597544 |
missense |
probably benign |
0.16 |
|
R7194:Fn1
|
UTSW |
1 |
71602323 |
missense |
probably damaging |
1.00 |
|
R7274:Fn1
|
UTSW |
1 |
71628113 |
missense |
probably benign |
|
|
R7285:Fn1
|
UTSW |
1 |
71637339 |
missense |
probably damaging |
1.00 |
|
R7426:Fn1
|
UTSW |
1 |
71649225 |
missense |
probably damaging |
1.00 |
|
R7453:Fn1
|
UTSW |
1 |
71590880 |
missense |
probably damaging |
1.00 |
|
R7508:Fn1
|
UTSW |
1 |
71597516 |
missense |
probably benign |
0.01 |
|
R7724:Fn1
|
UTSW |
1 |
71603735 |
missense |
probably benign |
0.02 |
|
X0023:Fn1
|
UTSW |
1 |
71598373 |
critical splice donor site |
probably null |
|
|
Z1088:Fn1
|
UTSW |
1 |
71649292 |
missense |
probably damaging |
1.00 |
|
|---|
| Posted On | 2016-08-02 |
|---|
