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, Bromi, b2b2284Clo, C6orf170 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
IGL02750
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56074587 bp (GRCm39)
|
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: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
Brd4 |
G |
A |
17: 32,417,353 (GRCm39) |
|
probably benign |
Het |
Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,132,673 (GRCm39) |
|
probably null |
Het |
Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
G |
A |
2: 24,753,881 (GRCm39) |
T161I |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
T |
C |
2: 52,993,709 (GRCm39) |
I368T |
possibly damaging |
Het |
Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
Grk6 |
T |
C |
13: 55,599,356 (GRCm39) |
F186S |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
Het |
|
Other mutations in Tbc1d32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Tbc1d32
|
APN |
10 |
56,031,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00535:Tbc1d32
|
APN |
10 |
56,091,221 (GRCm39) |
splice site |
probably benign |
|
IGL00835:Tbc1d32
|
APN |
10 |
55,965,942 (GRCm39) |
splice site |
probably benign |
|
IGL01013:Tbc1d32
|
APN |
10 |
56,078,055 (GRCm39) |
splice site |
probably null |
|
IGL01306:Tbc1d32
|
APN |
10 |
56,056,620 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01452:Tbc1d32
|
APN |
10 |
56,091,176 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01668:Tbc1d32
|
APN |
10 |
55,999,673 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02008:Tbc1d32
|
APN |
10 |
56,027,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02076:Tbc1d32
|
APN |
10 |
55,964,499 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02348:Tbc1d32
|
APN |
10 |
56,100,715 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02476:Tbc1d32
|
APN |
10 |
56,074,638 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02893:Tbc1d32
|
APN |
10 |
55,893,799 (GRCm39) |
missense |
probably damaging |
0.98 |
ANU23:Tbc1d32
|
UTSW |
10 |
56,056,620 (GRCm39) |
missense |
probably benign |
0.14 |
P0035:Tbc1d32
|
UTSW |
10 |
56,074,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Tbc1d32
|
UTSW |
10 |
55,893,701 (GRCm39) |
missense |
probably benign |
0.02 |
R0446:Tbc1d32
|
UTSW |
10 |
56,068,994 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0567:Tbc1d32
|
UTSW |
10 |
56,050,059 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0615:Tbc1d32
|
UTSW |
10 |
56,100,736 (GRCm39) |
missense |
probably benign |
0.33 |
R0679:Tbc1d32
|
UTSW |
10 |
56,056,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R0943:Tbc1d32
|
UTSW |
10 |
56,037,243 (GRCm39) |
missense |
probably benign |
|
R1432:Tbc1d32
|
UTSW |
10 |
55,893,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R1454:Tbc1d32
|
UTSW |
10 |
56,053,575 (GRCm39) |
splice site |
probably benign |
|
R1708:Tbc1d32
|
UTSW |
10 |
56,027,865 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1834:Tbc1d32
|
UTSW |
10 |
55,893,700 (GRCm39) |
missense |
probably benign |
0.00 |
R1860:Tbc1d32
|
UTSW |
10 |
55,999,633 (GRCm39) |
nonsense |
probably null |
|
R2208:Tbc1d32
|
UTSW |
10 |
56,026,888 (GRCm39) |
critical splice donor site |
probably null |
|
R3012:Tbc1d32
|
UTSW |
10 |
56,050,011 (GRCm39) |
missense |
probably benign |
0.08 |
R3736:Tbc1d32
|
UTSW |
10 |
56,005,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R4184:Tbc1d32
|
UTSW |
10 |
56,100,676 (GRCm39) |
missense |
probably benign |
0.15 |
R4259:Tbc1d32
|
UTSW |
10 |
55,925,867 (GRCm39) |
missense |
probably damaging |
0.97 |
R4617:Tbc1d32
|
UTSW |
10 |
56,047,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4700:Tbc1d32
|
UTSW |
10 |
56,100,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R4794:Tbc1d32
|
UTSW |
10 |
56,072,932 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4879:Tbc1d32
|
UTSW |
10 |
55,925,125 (GRCm39) |
splice site |
probably null |
|
R5031:Tbc1d32
|
UTSW |
10 |
55,999,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R5036:Tbc1d32
|
UTSW |
10 |
56,071,500 (GRCm39) |
nonsense |
probably null |
|
R5276:Tbc1d32
|
UTSW |
10 |
56,027,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R5358:Tbc1d32
|
UTSW |
10 |
56,047,033 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5429:Tbc1d32
|
UTSW |
10 |
55,904,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R5435:Tbc1d32
|
UTSW |
10 |
55,916,246 (GRCm39) |
missense |
probably damaging |
0.98 |
R5451:Tbc1d32
|
UTSW |
10 |
56,071,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5607:Tbc1d32
|
UTSW |
10 |
56,005,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5642:Tbc1d32
|
UTSW |
10 |
56,026,973 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5732:Tbc1d32
|
UTSW |
10 |
55,964,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R5795:Tbc1d32
|
UTSW |
10 |
56,091,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5988:Tbc1d32
|
UTSW |
10 |
55,964,433 (GRCm39) |
missense |
probably damaging |
0.98 |
R6054:Tbc1d32
|
UTSW |
10 |
56,038,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6103:Tbc1d32
|
UTSW |
10 |
56,026,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R6277:Tbc1d32
|
UTSW |
10 |
56,071,525 (GRCm39) |
missense |
probably benign |
|
R6422:Tbc1d32
|
UTSW |
10 |
55,904,157 (GRCm39) |
nonsense |
probably null |
|
R6508:Tbc1d32
|
UTSW |
10 |
56,100,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R6859:Tbc1d32
|
UTSW |
10 |
56,056,626 (GRCm39) |
missense |
probably damaging |
0.98 |
R6887:Tbc1d32
|
UTSW |
10 |
56,027,907 (GRCm39) |
nonsense |
probably null |
|
R7012:Tbc1d32
|
UTSW |
10 |
56,100,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R7253:Tbc1d32
|
UTSW |
10 |
56,074,537 (GRCm39) |
missense |
probably benign |
|
R7288:Tbc1d32
|
UTSW |
10 |
55,927,483 (GRCm39) |
critical splice donor site |
probably null |
|
R7599:Tbc1d32
|
UTSW |
10 |
56,027,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8338:Tbc1d32
|
UTSW |
10 |
55,904,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8814:Tbc1d32
|
UTSW |
10 |
56,072,688 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8864:Tbc1d32
|
UTSW |
10 |
55,963,655 (GRCm39) |
missense |
probably benign |
0.01 |
R9018:Tbc1d32
|
UTSW |
10 |
55,948,693 (GRCm39) |
missense |
probably benign |
0.02 |
R9030:Tbc1d32
|
UTSW |
10 |
56,037,241 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9530:Tbc1d32
|
UTSW |
10 |
56,072,507 (GRCm39) |
missense |
probably damaging |
0.98 |
R9616:Tbc1d32
|
UTSW |
10 |
56,037,246 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1188:Tbc1d32
|
UTSW |
10 |
56,046,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |