Incidental Mutation 'R8119:Fndc3b'
ID |
631382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc3b
|
Ensembl Gene |
ENSMUSG00000039286 |
Gene Name |
fibronectin type III domain containing 3B |
Synonyms |
1600019O04Rik, fad104 |
MMRRC Submission |
067548-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8119 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27505493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 925
(M925K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000195008]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046157
AA Change: M925K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000041495 Gene: ENSMUSG00000039286 AA Change: M925K
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
224 |
246 |
N/A |
INTRINSIC |
FN3
|
279 |
368 |
6.29e-8 |
SMART |
FN3
|
382 |
463 |
8.31e-8 |
SMART |
FN3
|
478 |
560 |
3.15e-8 |
SMART |
FN3
|
575 |
659 |
4.28e-10 |
SMART |
FN3
|
674 |
755 |
2.14e-10 |
SMART |
FN3
|
770 |
849 |
1.98e-5 |
SMART |
FN3
|
872 |
947 |
1.31e-5 |
SMART |
FN3
|
961 |
1042 |
2.31e-6 |
SMART |
FN3
|
1057 |
1137 |
1.2e-4 |
SMART |
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
transmembrane domain
|
1182 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195008
AA Change: M925K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141620 Gene: ENSMUSG00000039286 AA Change: M925K
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
224 |
246 |
N/A |
INTRINSIC |
FN3
|
279 |
368 |
6.29e-8 |
SMART |
FN3
|
382 |
463 |
8.31e-8 |
SMART |
FN3
|
478 |
560 |
3.15e-8 |
SMART |
FN3
|
575 |
659 |
4.28e-10 |
SMART |
FN3
|
674 |
755 |
2.14e-10 |
SMART |
FN3
|
770 |
849 |
1.98e-5 |
SMART |
FN3
|
872 |
947 |
1.31e-5 |
SMART |
FN3
|
961 |
1042 |
2.31e-6 |
SMART |
FN3
|
1057 |
1137 |
1.2e-4 |
SMART |
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
transmembrane domain
|
1182 |
1204 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.2%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,087,930 (GRCm39) |
I1066V |
probably benign |
Het |
Abcd2 |
T |
C |
15: 91,033,197 (GRCm39) |
T740A |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,094,852 (GRCm39) |
L117P |
probably damaging |
Het |
Ankar |
A |
T |
1: 72,686,160 (GRCm39) |
S1347T |
probably damaging |
Het |
Apol7e |
T |
C |
15: 77,601,956 (GRCm39) |
S185P |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,942,734 (GRCm39) |
C2088Y |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,851,825 (GRCm39) |
S205G |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,704,672 (GRCm39) |
I2803V |
unknown |
Het |
Cfh |
A |
C |
1: 140,047,753 (GRCm39) |
F477V |
possibly damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,056 (GRCm39) |
V144A |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 17,077,310 (GRCm39) |
S116P |
probably damaging |
Het |
Dgkd |
A |
T |
1: 87,845,689 (GRCm39) |
T299S |
possibly damaging |
Het |
Fam20b |
T |
G |
1: 156,518,072 (GRCm39) |
T241P |
probably damaging |
Het |
Ftdc1 |
C |
A |
16: 58,437,211 (GRCm39) |
M32I |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,299,607 (GRCm39) |
R987Q |
probably damaging |
Het |
Kctd10 |
A |
G |
5: 114,505,316 (GRCm39) |
V226A |
probably damaging |
Het |
Lypd2 |
A |
G |
15: 74,604,881 (GRCm39) |
V38A |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,909,156 (GRCm39) |
R265G |
possibly damaging |
Het |
Mcc |
C |
T |
18: 44,601,500 (GRCm39) |
V610M |
possibly damaging |
Het |
Mocs1 |
C |
T |
17: 49,756,547 (GRCm39) |
R244C |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,103,232 (GRCm39) |
T677A |
probably damaging |
Het |
Ngp |
A |
G |
9: 110,251,421 (GRCm39) |
N150D |
probably benign |
Het |
Nipbl |
C |
T |
15: 8,388,696 (GRCm39) |
R308Q |
probably benign |
Het |
Nsrp1 |
A |
G |
11: 76,939,177 (GRCm39) |
|
probably null |
Het |
Or2y16 |
A |
T |
11: 49,334,953 (GRCm39) |
I92F |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,908 (GRCm39) |
I206N |
probably damaging |
Het |
Or52n20 |
A |
T |
7: 104,320,061 (GRCm39) |
I51F |
probably damaging |
Het |
Pbld2 |
A |
T |
10: 62,889,656 (GRCm39) |
D146V |
probably benign |
Het |
Prss22 |
T |
A |
17: 24,213,701 (GRCm39) |
K197* |
probably null |
Het |
Ptprd |
G |
T |
4: 76,047,263 (GRCm39) |
S87R |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Slc25a35 |
T |
C |
11: 68,862,798 (GRCm39) |
L251S |
probably benign |
Het |
Slx4 |
A |
T |
16: 3,803,136 (GRCm39) |
L1226* |
probably null |
Het |
Smarca4 |
T |
C |
9: 21,558,922 (GRCm39) |
V651A |
possibly damaging |
Het |
Smarcad1 |
T |
C |
6: 65,071,303 (GRCm39) |
F583L |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,894,526 (GRCm39) |
K932E |
probably benign |
Het |
Trav8d-1 |
A |
T |
14: 53,016,425 (GRCm39) |
T104S |
probably benign |
Het |
Trmt9b |
G |
A |
8: 36,965,576 (GRCm39) |
W32* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,976,552 (GRCm39) |
V155D |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,752,429 (GRCm39) |
Y1445F |
possibly damaging |
Het |
Ttll5 |
C |
A |
12: 86,067,322 (GRCm39) |
N1270K |
probably damaging |
Het |
Usp40 |
G |
T |
1: 87,895,400 (GRCm39) |
|
probably null |
Het |
Vmn2r74 |
T |
C |
7: 85,610,690 (GRCm39) |
M1V |
probably null |
Het |
Wwox |
T |
C |
8: 115,433,108 (GRCm39) |
V258A |
probably damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp770 |
G |
A |
2: 114,027,508 (GRCm39) |
T187I |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,241,969 (GRCm39) |
|
probably null |
Het |
Zscan4-ps3 |
A |
G |
7: 11,344,267 (GRCm39) |
Q75R |
probably damaging |
Het |
|
Other mutations in Fndc3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00655:Fndc3b
|
APN |
3 |
27,592,161 (GRCm39) |
missense |
probably benign |
0.40 |
IGL00848:Fndc3b
|
APN |
3 |
27,505,658 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01099:Fndc3b
|
APN |
3 |
27,517,966 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01459:Fndc3b
|
APN |
3 |
27,515,889 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01583:Fndc3b
|
APN |
3 |
27,483,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01736:Fndc3b
|
APN |
3 |
27,521,552 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02154:Fndc3b
|
APN |
3 |
27,592,266 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02377:Fndc3b
|
APN |
3 |
27,674,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Fndc3b
|
APN |
3 |
27,515,869 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02508:Fndc3b
|
APN |
3 |
27,512,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Fndc3b
|
APN |
3 |
27,562,652 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02974:Fndc3b
|
APN |
3 |
27,542,425 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Fndc3b
|
APN |
3 |
27,592,388 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03083:Fndc3b
|
APN |
3 |
27,521,576 (GRCm39) |
missense |
probably benign |
0.10 |
R0040:Fndc3b
|
UTSW |
3 |
27,610,266 (GRCm39) |
splice site |
probably null |
|
R0040:Fndc3b
|
UTSW |
3 |
27,610,266 (GRCm39) |
splice site |
probably null |
|
R0101:Fndc3b
|
UTSW |
3 |
27,512,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R0279:Fndc3b
|
UTSW |
3 |
27,511,155 (GRCm39) |
missense |
probably benign |
0.30 |
R0281:Fndc3b
|
UTSW |
3 |
27,511,155 (GRCm39) |
missense |
probably benign |
0.30 |
R0325:Fndc3b
|
UTSW |
3 |
27,521,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Fndc3b
|
UTSW |
3 |
27,515,928 (GRCm39) |
missense |
probably benign |
0.19 |
R1334:Fndc3b
|
UTSW |
3 |
27,513,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Fndc3b
|
UTSW |
3 |
27,494,334 (GRCm39) |
splice site |
probably benign |
|
R1961:Fndc3b
|
UTSW |
3 |
27,510,600 (GRCm39) |
nonsense |
probably null |
|
R1993:Fndc3b
|
UTSW |
3 |
27,473,549 (GRCm39) |
missense |
probably benign |
|
R2087:Fndc3b
|
UTSW |
3 |
27,505,703 (GRCm39) |
missense |
probably benign |
0.00 |
R2113:Fndc3b
|
UTSW |
3 |
27,697,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Fndc3b
|
UTSW |
3 |
27,494,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2437:Fndc3b
|
UTSW |
3 |
27,505,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R2930:Fndc3b
|
UTSW |
3 |
27,524,435 (GRCm39) |
missense |
probably benign |
|
R2997:Fndc3b
|
UTSW |
3 |
27,523,021 (GRCm39) |
missense |
probably benign |
0.00 |
R3151:Fndc3b
|
UTSW |
3 |
27,473,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3782:Fndc3b
|
UTSW |
3 |
27,514,135 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4255:Fndc3b
|
UTSW |
3 |
27,555,556 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4628:Fndc3b
|
UTSW |
3 |
27,610,277 (GRCm39) |
missense |
probably benign |
0.19 |
R4747:Fndc3b
|
UTSW |
3 |
27,483,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R4849:Fndc3b
|
UTSW |
3 |
27,514,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Fndc3b
|
UTSW |
3 |
27,511,219 (GRCm39) |
missense |
probably benign |
0.14 |
R5291:Fndc3b
|
UTSW |
3 |
27,697,144 (GRCm39) |
missense |
probably benign |
0.39 |
R5392:Fndc3b
|
UTSW |
3 |
27,519,936 (GRCm39) |
nonsense |
probably null |
|
R5540:Fndc3b
|
UTSW |
3 |
27,555,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5554:Fndc3b
|
UTSW |
3 |
27,697,162 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5635:Fndc3b
|
UTSW |
3 |
27,596,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R5639:Fndc3b
|
UTSW |
3 |
27,480,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R5678:Fndc3b
|
UTSW |
3 |
27,483,172 (GRCm39) |
missense |
probably benign |
|
R5732:Fndc3b
|
UTSW |
3 |
27,515,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R5880:Fndc3b
|
UTSW |
3 |
27,483,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6539:Fndc3b
|
UTSW |
3 |
27,592,206 (GRCm39) |
missense |
probably benign |
0.22 |
R7038:Fndc3b
|
UTSW |
3 |
27,555,618 (GRCm39) |
missense |
probably benign |
0.23 |
R7102:Fndc3b
|
UTSW |
3 |
27,524,383 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7203:Fndc3b
|
UTSW |
3 |
27,510,634 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:Fndc3b
|
UTSW |
3 |
27,515,893 (GRCm39) |
missense |
probably benign |
0.00 |
R7796:Fndc3b
|
UTSW |
3 |
27,515,892 (GRCm39) |
missense |
probably benign |
0.00 |
R7861:Fndc3b
|
UTSW |
3 |
27,523,148 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8105:Fndc3b
|
UTSW |
3 |
27,524,374 (GRCm39) |
missense |
probably benign |
0.01 |
R8348:Fndc3b
|
UTSW |
3 |
27,494,144 (GRCm39) |
missense |
probably benign |
|
R8677:Fndc3b
|
UTSW |
3 |
27,511,176 (GRCm39) |
missense |
probably benign |
0.32 |
R8929:Fndc3b
|
UTSW |
3 |
27,596,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Fndc3b
|
UTSW |
3 |
27,555,329 (GRCm39) |
intron |
probably benign |
|
R9102:Fndc3b
|
UTSW |
3 |
27,523,014 (GRCm39) |
critical splice donor site |
probably null |
|
R9211:Fndc3b
|
UTSW |
3 |
27,523,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R9224:Fndc3b
|
UTSW |
3 |
27,524,450 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9225:Fndc3b
|
UTSW |
3 |
27,510,680 (GRCm39) |
nonsense |
probably null |
|
R9358:Fndc3b
|
UTSW |
3 |
27,505,556 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9600:Fndc3b
|
UTSW |
3 |
27,552,941 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Fndc3b
|
UTSW |
3 |
27,505,583 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1088:Fndc3b
|
UTSW |
3 |
27,519,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCAGTATTTCACTTGGTCC -3'
(R):5'- GGCCATATAGTGAGCTTGTCC -3'
Sequencing Primer
(F):5'- GGTCCTTTTCCACACGTTAAGAAGG -3'
(R):5'- ATATAGTGAGCTTGTCCACTGCCAG -3'
|
Posted On |
2020-06-30 |