Incidental Mutation 'R0398:Fndc3b'
| ID |
32107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
038603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27515928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 626
(V626A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(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: V626A
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: V626A
| 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: V626A
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: V626A
| 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 |
|
| Meta Mutation Damage Score |
0.1860 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 83.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,117,010 (GRCm39) |
Q546R |
probably null |
Het |
| Acr |
T |
G |
15: 89,458,144 (GRCm39) |
V275G |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,303,448 (GRCm39) |
Y160H |
probably benign |
Het |
| Adcy5 |
T |
A |
16: 35,089,438 (GRCm39) |
M545K |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,379 (GRCm39) |
E154G |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,296,608 (GRCm39) |
L338R |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,590 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,644,866 (GRCm39) |
S436P |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,070,355 (GRCm39) |
Y16H |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,091 (GRCm39) |
F90Y |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,836,216 (GRCm39) |
Q411K |
probably benign |
Het |
| Cdca2 |
A |
C |
14: 67,935,411 (GRCm39) |
F435V |
probably damaging |
Het |
| Cdh13 |
T |
G |
8: 120,040,786 (GRCm39) |
S664A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,073,702 (GRCm39) |
V438E |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,266,032 (GRCm39) |
D40G |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,952 (GRCm39) |
H840R |
unknown |
Het |
| Cpa1 |
A |
G |
6: 30,645,250 (GRCm39) |
T409A |
probably benign |
Het |
| Crlf1 |
G |
A |
8: 70,951,739 (GRCm39) |
|
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,907,855 (GRCm39) |
I184N |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,886 (GRCm39) |
D596G |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,495,367 (GRCm39) |
R724G |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,517,267 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,671,487 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,436,337 (GRCm39) |
A140E |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,251,274 (GRCm39) |
S477P |
possibly damaging |
Het |
| Gm16380 |
T |
C |
9: 53,791,453 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
C |
A |
1: 150,674,565 (GRCm39) |
R579M |
possibly damaging |
Het |
| Hoxb8 |
A |
C |
11: 96,173,937 (GRCm39) |
H50P |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,163,706 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
G |
A |
3: 40,711,429 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,756,670 (GRCm39) |
Y296F |
probably damaging |
Het |
| Igsf8 |
C |
A |
1: 172,145,066 (GRCm39) |
T131K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,415,373 (GRCm39) |
P298L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,259,788 (GRCm39) |
I229N |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,288,688 (GRCm39) |
D1205G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,910 (GRCm39) |
R74G |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,013,760 (GRCm39) |
T481A |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,244,810 (GRCm39) |
T7312S |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,030,299 (GRCm39) |
Q1068* |
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,941,302 (GRCm39) |
Y203C |
probably damaging |
Het |
| Nek2 |
T |
A |
1: 191,559,473 (GRCm39) |
I326N |
probably benign |
Het |
| Nlrc4 |
A |
C |
17: 74,752,915 (GRCm39) |
N489K |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,732 (GRCm39) |
S304R |
possibly damaging |
Het |
| Ogfr |
C |
G |
2: 180,235,492 (GRCm39) |
R189G |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,899 (GRCm39) |
L252H |
probably damaging |
Het |
| Or5p78 |
T |
A |
7: 108,212,162 (GRCm39) |
I216N |
probably benign |
Het |
| Or5w8 |
A |
T |
2: 87,688,401 (GRCm39) |
N294I |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,885 (GRCm39) |
S145G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,716 (GRCm39) |
E3406G |
unknown |
Het |
| Pcx |
T |
G |
19: 4,651,638 (GRCm39) |
F4C |
probably benign |
Het |
| Pgd |
C |
A |
4: 149,238,339 (GRCm39) |
G364V |
probably damaging |
Het |
| Pla2g12a |
C |
A |
3: 129,684,045 (GRCm39) |
D102E |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,833,253 (GRCm39) |
C82* |
probably null |
Het |
| Prdm1 |
T |
C |
10: 44,315,805 (GRCm39) |
N792S |
probably damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,757 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,094 (GRCm39) |
P242Q |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,370 (GRCm39) |
N129S |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,150 (GRCm39) |
T231A |
possibly damaging |
Het |
| Qrfpr |
C |
T |
3: 36,235,201 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,364,344 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,526,508 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,385 (GRCm39) |
E25G |
probably damaging |
Het |
| Rpl8 |
G |
C |
15: 76,789,246 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
G |
A |
15: 53,583,116 (GRCm39) |
P73S |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,502 (GRCm39) |
N920Y |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,476 (GRCm39) |
V607A |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,508,401 (GRCm39) |
Y196H |
probably damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,869,621 (GRCm39) |
M12K |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,018,556 (GRCm39) |
I501T |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,262,408 (GRCm39) |
V546D |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,313,727 (GRCm39) |
V511M |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,526,788 (GRCm39) |
V1015G |
probably benign |
Het |
| Thoc5 |
G |
T |
11: 4,871,978 (GRCm39) |
V516F |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,628 (GRCm39) |
I570N |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,524,770 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Yipf3 |
A |
G |
17: 46,562,411 (GRCm39) |
E298G |
possibly damaging |
Het |
| Zbtb34 |
C |
A |
2: 33,301,060 (GRCm39) |
E494* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,677,878 (GRCm39) |
Y2976C |
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 |
|
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 |
|
|
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'- TCCCAACTTGATCTAGAGGCCCAC -3'
(R):5'- GGCTACCTCAGCATGGCATTTCAC -3'
Sequencing Primer
(F):5'- TAGAGGCCCACTGCCAC -3'
(R):5'- GTAGTCAGCAGTGTCATAATGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation