Incidental Mutation 'R2437:Fndc3b'
| ID |
249629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
040398-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27505481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 929
(L929H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046157
AA Change: L929H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: L929H
| 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 damaging
Transcript: ENSMUST00000195008
AA Change: L929H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: L929H
| 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 |
0.1131 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,031,075 (GRCm39) |
*635W |
probably null |
Het |
| Anxa2 |
A |
G |
9: 69,397,046 (GRCm39) |
Y317C |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,002 (GRCm39) |
S675P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,012,834 (GRCm39) |
|
probably null |
Het |
| Camk2d |
A |
G |
3: 126,628,277 (GRCm39) |
N53S |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,215,782 (GRCm39) |
M800K |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,996,767 (GRCm39) |
|
probably null |
Het |
| Chrne |
T |
A |
11: 70,506,086 (GRCm39) |
D426V |
possibly damaging |
Het |
| Cntfr |
T |
C |
4: 41,671,035 (GRCm39) |
T43A |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,048,758 (GRCm39) |
C63* |
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,599,501 (GRCm39) |
T884I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,307,537 (GRCm39) |
|
probably null |
Het |
| Dnajc2 |
A |
T |
5: 21,965,389 (GRCm39) |
S537R |
probably benign |
Het |
| Dnajc25 |
T |
C |
4: 59,020,234 (GRCm39) |
I100T |
probably damaging |
Het |
| Ephx1 |
C |
A |
1: 180,823,661 (GRCm39) |
G149C |
probably damaging |
Het |
| Fam163b |
G |
T |
2: 27,002,698 (GRCm39) |
P100T |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,039,675 (GRCm39) |
|
probably null |
Het |
| Fgd5 |
A |
T |
6: 92,039,850 (GRCm39) |
R1017* |
probably null |
Het |
| Fibin |
A |
T |
2: 110,192,848 (GRCm39) |
L98Q |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,410 (GRCm39) |
S512C |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,829 (GRCm39) |
M298L |
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,369 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,317,042 (GRCm39) |
|
probably null |
Het |
| Ibtk |
A |
C |
9: 85,590,178 (GRCm39) |
L1026V |
probably benign |
Het |
| Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,432,037 (GRCm39) |
S146P |
probably damaging |
Het |
| Kcnab1 |
G |
T |
3: 65,264,435 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,436 (GRCm39) |
S217P |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,277 (GRCm39) |
M233V |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,218,584 (GRCm39) |
T1415I |
probably damaging |
Het |
| Oasl2 |
G |
A |
5: 115,049,357 (GRCm39) |
D486N |
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,418,258 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or9a7 |
G |
A |
6: 40,521,856 (GRCm39) |
T19I |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,688 (GRCm39) |
I212T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,588,587 (GRCm39) |
F132L |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,636,702 (GRCm39) |
L717Q |
probably damaging |
Het |
| Peli2 |
A |
T |
14: 48,465,389 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,962,657 (GRCm39) |
S435G |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,913,564 (GRCm39) |
H1095Q |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,907 (GRCm39) |
|
probably null |
Het |
| Plekho1 |
T |
G |
3: 95,899,497 (GRCm39) |
N99H |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,742,395 (GRCm39) |
K457N |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,322 (GRCm39) |
E864G |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,574,715 (GRCm39) |
L237Q |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptger3 |
T |
A |
3: 157,273,207 (GRCm39) |
C185S |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,230,709 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,654 (GRCm39) |
I715V |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,114,573 (GRCm39) |
V518A |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,827,147 (GRCm39) |
I28V |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,606,272 (GRCm39) |
L560P |
probably damaging |
Het |
| Rgs20 |
A |
G |
1: 5,140,370 (GRCm39) |
|
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,781,315 (GRCm39) |
L460H |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
A |
1: 96,990,201 (GRCm39) |
H663L |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,132,926 (GRCm39) |
C63S |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,560,959 (GRCm39) |
D212V |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
| Syncrip |
A |
G |
9: 88,361,620 (GRCm39) |
|
probably benign |
Het |
| Taf15 |
A |
G |
11: 83,395,579 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,444,368 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
T |
A |
9: 122,877,614 (GRCm39) |
C205* |
probably null |
Het |
| Tmem212 |
A |
T |
3: 27,940,628 (GRCm39) |
L63Q |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,054 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
C |
A |
7: 142,636,298 (GRCm39) |
V525L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,537,171 (GRCm39) |
L34919P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,694,619 (GRCm39) |
|
probably benign |
Het |
| Tuba4a |
T |
C |
1: 75,194,069 (GRCm39) |
I4V |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,200,853 (GRCm39) |
D4679G |
possibly damaging |
Het |
| Usp2 |
T |
G |
9: 44,003,445 (GRCm39) |
V448G |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,453,024 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,470,721 (GRCm39) |
V246E |
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 |
|
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'- CAATACCGGCTTGGCTCTTG -3'
(R):5'- TAGTGAGCTTGTCCACTGC -3'
Sequencing Primer
(F):5'- GGCTCTTGGGCAGTATTTCAC -3'
(R):5'- TGAGCTTGTCCACTGCCAGAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation