Incidental Mutation 'IGL01099:Fndc3b'
| ID |
50736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27517966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 607
(I607V)
|
| 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: I607V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: I607V
| 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: I607V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: I607V
| 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 |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
| Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
| Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
| Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
| F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
| Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
| Glod4 |
T |
A |
11: 76,130,376 (GRCm39) |
K36* |
probably null |
Het |
| Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
| Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
| Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,165,591 (GRCm39) |
C330R |
probably damaging |
Het |
| Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
| Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
| Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,885,190 (GRCm39) |
H436L |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
| Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
| Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
T |
12: 99,881,704 (GRCm39) |
|
probably benign |
Het |
| Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
| Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,854,686 (GRCm39) |
S689P |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
| Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation