Incidental Mutation 'IGL01013:Tbc1d32'
| ID |
53808 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, C6orf170, Bromi, b2b2284Clo |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
56014293-56228689 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 56201959 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099739
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 76,886,206 (GRCm38) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm38) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,650,989 (GRCm38) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,949,476 (GRCm38) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,323,087 (GRCm38) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,689,013 (GRCm38) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,581,339 (GRCm38) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 25,789,054 (GRCm38) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,740,869 (GRCm38) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,599,297 (GRCm38) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 8,993,575 (GRCm38) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 88,742,362 (GRCm38) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,031,395 (GRCm38) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,729,369 (GRCm38) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,267,786 (GRCm38) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm38) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 109,579,021 (GRCm38) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,334,304 (GRCm38) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,399,691 (GRCm38) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 139,017,573 (GRCm38) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,370,517 (GRCm38) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,762,590 (GRCm38) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,135 (GRCm38) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,827,526 (GRCm38) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 112,997,585 (GRCm38) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,327,860 (GRCm38) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,328,425 (GRCm38) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 4,030,716 (GRCm38) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,648,066 (GRCm38) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,283,601 (GRCm38) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,729,003 (GRCm38) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,282,790 (GRCm38) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,793,834 (GRCm38) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,146,129 (GRCm38) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,404,383 (GRCm38) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,284,227 (GRCm38) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,944,433 (GRCm38) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,232,472 (GRCm38) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,625,065 (GRCm38) |
R3Q |
probably damaging |
Het |
| Tcf7l2 |
T |
C |
19: 55,919,627 (GRCm38) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,722,029 (GRCm38) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,376,310 (GRCm38) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,535,497 (GRCm38) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,839,956 (GRCm38) |
I41T |
probably damaging |
Het |
|
| Other mutations in Tbc1d32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Tbc1d32
|
APN |
10 |
56,155,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00535:Tbc1d32
|
APN |
10 |
56,215,125 (GRCm38) |
splice site |
probably benign |
|
|
IGL00835:Tbc1d32
|
APN |
10 |
56,089,846 (GRCm38) |
splice site |
probably benign |
|
|
IGL01306:Tbc1d32
|
APN |
10 |
56,180,524 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01452:Tbc1d32
|
APN |
10 |
56,215,080 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01668:Tbc1d32
|
APN |
10 |
56,123,577 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02008:Tbc1d32
|
APN |
10 |
56,151,775 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02076:Tbc1d32
|
APN |
10 |
56,088,403 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02348:Tbc1d32
|
APN |
10 |
56,224,619 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02476:Tbc1d32
|
APN |
10 |
56,198,542 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02750:Tbc1d32
|
APN |
10 |
56,198,491 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02893:Tbc1d32
|
APN |
10 |
56,017,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
ANU23:Tbc1d32
|
UTSW |
10 |
56,180,524 (GRCm38) |
missense |
probably benign |
0.14 |
|
P0035:Tbc1d32
|
UTSW |
10 |
56,198,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0118:Tbc1d32
|
UTSW |
10 |
56,017,605 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0446:Tbc1d32
|
UTSW |
10 |
56,192,898 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0567:Tbc1d32
|
UTSW |
10 |
56,173,963 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0615:Tbc1d32
|
UTSW |
10 |
56,224,640 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0679:Tbc1d32
|
UTSW |
10 |
56,180,576 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0943:Tbc1d32
|
UTSW |
10 |
56,161,147 (GRCm38) |
missense |
probably benign |
|
|
R1432:Tbc1d32
|
UTSW |
10 |
56,017,662 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1454:Tbc1d32
|
UTSW |
10 |
56,177,479 (GRCm38) |
splice site |
probably benign |
|
|
R1708:Tbc1d32
|
UTSW |
10 |
56,151,769 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1834:Tbc1d32
|
UTSW |
10 |
56,017,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1860:Tbc1d32
|
UTSW |
10 |
56,123,537 (GRCm38) |
nonsense |
probably null |
|
|
R2208:Tbc1d32
|
UTSW |
10 |
56,150,792 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3012:Tbc1d32
|
UTSW |
10 |
56,173,915 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3736:Tbc1d32
|
UTSW |
10 |
56,129,093 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4184:Tbc1d32
|
UTSW |
10 |
56,224,580 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4259:Tbc1d32
|
UTSW |
10 |
56,049,771 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4617:Tbc1d32
|
UTSW |
10 |
56,170,904 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4700:Tbc1d32
|
UTSW |
10 |
56,224,649 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4794:Tbc1d32
|
UTSW |
10 |
56,196,836 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4879:Tbc1d32
|
UTSW |
10 |
56,049,029 (GRCm38) |
splice site |
probably null |
|
|
R5031:Tbc1d32
|
UTSW |
10 |
56,123,531 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5036:Tbc1d32
|
UTSW |
10 |
56,195,404 (GRCm38) |
nonsense |
probably null |
|
|
R5276:Tbc1d32
|
UTSW |
10 |
56,151,818 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5358:Tbc1d32
|
UTSW |
10 |
56,170,937 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5429:Tbc1d32
|
UTSW |
10 |
56,027,993 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5435:Tbc1d32
|
UTSW |
10 |
56,040,150 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5451:Tbc1d32
|
UTSW |
10 |
56,195,475 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5607:Tbc1d32
|
UTSW |
10 |
56,129,150 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5642:Tbc1d32
|
UTSW |
10 |
56,150,877 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5732:Tbc1d32
|
UTSW |
10 |
56,088,393 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5795:Tbc1d32
|
UTSW |
10 |
56,215,062 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5988:Tbc1d32
|
UTSW |
10 |
56,088,337 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6054:Tbc1d32
|
UTSW |
10 |
56,162,208 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6103:Tbc1d32
|
UTSW |
10 |
56,150,883 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6277:Tbc1d32
|
UTSW |
10 |
56,195,429 (GRCm38) |
missense |
probably benign |
|
|
R6422:Tbc1d32
|
UTSW |
10 |
56,028,061 (GRCm38) |
nonsense |
probably null |
|
|
R6508:Tbc1d32
|
UTSW |
10 |
56,224,690 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6859:Tbc1d32
|
UTSW |
10 |
56,180,530 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6887:Tbc1d32
|
UTSW |
10 |
56,151,811 (GRCm38) |
nonsense |
probably null |
|
|
R7012:Tbc1d32
|
UTSW |
10 |
56,224,724 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7253:Tbc1d32
|
UTSW |
10 |
56,198,441 (GRCm38) |
missense |
probably benign |
|
|
R7288:Tbc1d32
|
UTSW |
10 |
56,051,387 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7599:Tbc1d32
|
UTSW |
10 |
56,151,833 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8338:Tbc1d32
|
UTSW |
10 |
56,028,077 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8814:Tbc1d32
|
UTSW |
10 |
56,196,592 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8864:Tbc1d32
|
UTSW |
10 |
56,087,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9018:Tbc1d32
|
UTSW |
10 |
56,072,597 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9030:Tbc1d32
|
UTSW |
10 |
56,161,145 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9530:Tbc1d32
|
UTSW |
10 |
56,196,411 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9616:Tbc1d32
|
UTSW |
10 |
56,161,150 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1188:Tbc1d32
|
UTSW |
10 |
56,170,881 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-28 |
Incidental Mutation