Incidental Mutation 'R9102:Fndc3b'
| ID |
691738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
068916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9102 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 27523014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046157
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,897,737 (GRCm39) |
Q227R |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,912,802 (GRCm39) |
G1276D |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,056 (GRCm39) |
S394P |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,341 (GRCm39) |
H226L |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,506,658 (GRCm39) |
D297G |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,869,725 (GRCm39) |
T101A |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,324,565 (GRCm39) |
R166G |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,323 (GRCm39) |
F587S |
probably damaging |
Het |
| Col4a1 |
A |
T |
8: 11,253,007 (GRCm39) |
C1548S |
possibly damaging |
Het |
| Cxcl15 |
G |
T |
5: 90,949,154 (GRCm39) |
M106I |
|
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,199,567 (GRCm39) |
P1446S |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,044,469 (GRCm39) |
I3214N |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,518,703 (GRCm39) |
V622A |
probably damaging |
Het |
| Fam170b |
T |
A |
14: 32,557,404 (GRCm39) |
S80T |
probably damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,837,801 (GRCm39) |
H45Q |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,208,316 (GRCm39) |
F223L |
possibly damaging |
Het |
| Gbp3 |
G |
C |
3: 142,273,586 (GRCm39) |
V378L |
probably benign |
Het |
| Gc |
C |
T |
5: 89,591,444 (GRCm39) |
S98N |
probably benign |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gpr158 |
A |
T |
2: 21,830,078 (GRCm39) |
S708C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,573,331 (GRCm39) |
M2106K |
probably benign |
Het |
| Hoxd11 |
T |
A |
2: 74,513,274 (GRCm39) |
Y180N |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,546 (GRCm39) |
I1844V |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,917,973 (GRCm39) |
I1777T |
probably benign |
Het |
| Krt33b |
A |
C |
11: 99,915,846 (GRCm39) |
L300R |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,988,404 (GRCm39) |
A1208T |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,694,760 (GRCm39) |
N461I |
probably benign |
Het |
| Mgat1 |
T |
A |
11: 49,152,165 (GRCm39) |
V216E |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,517 (GRCm39) |
M137T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,924 (GRCm39) |
S1015P |
probably benign |
Het |
| Nudt22 |
T |
A |
19: 6,972,119 (GRCm39) |
I166F |
probably benign |
Het |
| Or10d1b |
A |
C |
9: 39,613,984 (GRCm39) |
V27G |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,171 (GRCm39) |
M136I |
possibly damaging |
Het |
| Or6k4 |
A |
T |
1: 173,964,322 (GRCm39) |
N4I |
|
Het |
| Or6n2 |
T |
A |
1: 173,897,176 (GRCm39) |
F104Y |
probably damaging |
Het |
| Or8b4 |
T |
A |
9: 37,829,992 (GRCm39) |
I13N |
probably damaging |
Het |
| Or8g31-ps1 |
C |
T |
9: 39,276,388 (GRCm39) |
P178S |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,087,630 (GRCm39) |
N604K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,663,107 (GRCm39) |
V1181M |
probably damaging |
Het |
| Pms1 |
G |
C |
1: 53,307,021 (GRCm39) |
H128Q |
probably benign |
Het |
| Prkar2b |
G |
A |
12: 32,013,025 (GRCm39) |
H364Y |
probably benign |
Het |
| Pus7 |
A |
T |
5: 23,957,380 (GRCm39) |
I357K |
possibly damaging |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGCCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,906 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,915,389 (GRCm39) |
I1401V |
probably benign |
Het |
| Slc6a6 |
G |
T |
6: 91,731,940 (GRCm39) |
V590L |
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,100,725 (GRCm39) |
P490L |
probably damaging |
Het |
| Sprn |
T |
C |
7: 139,733,278 (GRCm39) |
D98G |
possibly damaging |
Het |
| Srrm4 |
T |
C |
5: 116,620,563 (GRCm39) |
D55G |
unknown |
Het |
| Sugct |
A |
G |
13: 17,497,833 (GRCm39) |
V280A |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,381,014 (GRCm39) |
E83G |
possibly damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,455 (GRCm39) |
T209A |
probably benign |
Het |
| Top3a |
T |
C |
11: 60,647,155 (GRCm39) |
R255G |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,008 (GRCm39) |
F13I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,622 (GRCm39) |
E410G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,018,596 (GRCm39) |
V842A |
|
Het |
| Ubtf |
A |
G |
11: 102,201,015 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
G |
A |
1: 37,174,593 (GRCm39) |
M1I |
probably null |
Het |
| Zfp518b |
T |
C |
5: 38,831,181 (GRCm39) |
T275A |
probably benign |
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 |
|
R8119:Fndc3b
|
UTSW |
3 |
27,505,493 (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 |
|
|
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'- ATTTTGAAGAAGGGCTCGGG -3'
(R):5'- TACAGGATCCCTCTGACACAGTG -3'
Sequencing Primer
(F):5'- GAAGGTTTGCTGGCTGATTCTATC -3'
(R):5'- TCCCCCACAGTGGTTACAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation