Incidental Mutation 'IGL02750:Tbc1d32'
| ID |
306254 |
| 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 # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
56014293-56228689 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56198491 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 209
(T209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: T209A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: T209A
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
T |
C |
9: 14,548,791 (GRCm38) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,665,984 (GRCm38) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,968,658 (GRCm38) |
S374I |
possibly damaging |
Het |
| Brd4 |
G |
A |
17: 32,198,379 (GRCm38) |
|
probably benign |
Het |
| Cd3g |
C |
A |
9: 44,971,310 (GRCm38) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,363,615 (GRCm38) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,405,362 (GRCm38) |
|
probably null |
Het |
| Dkkl1 |
C |
T |
7: 45,210,112 (GRCm38) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,863,869 (GRCm38) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 122,181,406 (GRCm38) |
|
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 53,103,697 (GRCm38) |
I368T |
possibly damaging |
Het |
| Gabra5 |
G |
T |
7: 57,507,991 (GRCm38) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,565,419 (GRCm38) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,578,199 (GRCm38) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,451,543 (GRCm38) |
F186S |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,216,889 (GRCm38) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,676,512 (GRCm38) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 56,204,379 (GRCm38) |
|
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,095,754 (GRCm38) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,517,757 (GRCm38) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,661,377 (GRCm38) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,978,684 (GRCm38) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,851,280 (GRCm38) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,531,683 (GRCm38) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,343,472 (GRCm38) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,291,055 (GRCm38) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,860,375 (GRCm38) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,672,609 (GRCm38) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 86,335,544 (GRCm38) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,329,288 (GRCm38) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 94,039,544 (GRCm38) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,860,187 (GRCm38) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 78,435,063 (GRCm38) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,609,651 (GRCm38) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,621,939 (GRCm38) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,603,164 (GRCm38) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,539,362 (GRCm38) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,383,796 (GRCm38) |
I566S |
probably benign |
Het |
| Tonsl |
G |
T |
15: 76,633,389 (GRCm38) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 143,074,484 (GRCm38) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 46,969,282 (GRCm38) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,771,278 (GRCm38) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,967,481 (GRCm38) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,088,730 (GRCm38) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,397,634 (GRCm38) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,117,402 (GRCm38) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,582,589 (GRCm38) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,017,353 (GRCm38) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm38) |
K1254R |
probably null |
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 |
|
|
IGL01013:Tbc1d32
|
APN |
10 |
56,201,959 (GRCm38) |
splice site |
probably null |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation