Incidental Mutation 'R0615:Tbc1d32'
ID |
55025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d32
|
Ensembl Gene |
ENSMUSG00000038122 |
Gene Name |
TBC1 domain family, member 32 |
Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
MMRRC Submission |
038804-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R0615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 56100736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 81
(D81Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
AlphaFold |
Q3URV1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099739
AA Change: D81Y
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097328 Gene: ENSMUSG00000038122 AA Change: D81Y
Domain | Start | End | E-Value | Type |
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
Meta Mutation Damage Score |
0.0805 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (57/57) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
T |
C |
19: 42,040,962 (GRCm39) |
I31T |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,206,197 (GRCm39) |
I166V |
probably damaging |
Het |
Acaa2 |
G |
T |
18: 74,931,517 (GRCm39) |
V238L |
probably benign |
Het |
Ahsg |
A |
T |
16: 22,717,805 (GRCm39) |
I296F |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,027 (GRCm39) |
V1436D |
probably damaging |
Het |
Ate1 |
A |
T |
7: 130,115,563 (GRCm39) |
|
probably benign |
Het |
Atosa |
T |
A |
9: 74,911,570 (GRCm39) |
Y14N |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,059,627 (GRCm39) |
|
probably benign |
Het |
Aurkc |
A |
T |
7: 7,005,402 (GRCm39) |
I223L |
possibly damaging |
Het |
Bckdha |
G |
T |
7: 25,341,210 (GRCm39) |
D50E |
probably benign |
Het |
Brf2 |
C |
T |
8: 27,614,059 (GRCm39) |
E376K |
probably benign |
Het |
Cdk9 |
C |
A |
2: 32,599,813 (GRCm39) |
L141F |
possibly damaging |
Het |
Cgn |
A |
C |
3: 94,678,024 (GRCm39) |
|
probably benign |
Het |
Clcn1 |
G |
A |
6: 42,282,509 (GRCm39) |
V526I |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,334,141 (GRCm39) |
V343A |
possibly damaging |
Het |
Commd2 |
A |
T |
3: 57,554,116 (GRCm39) |
V195D |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,365,063 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
C |
T |
2: 118,266,666 (GRCm39) |
T729M |
probably damaging |
Het |
Elac1 |
A |
T |
18: 73,871,954 (GRCm39) |
V347E |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,316,053 (GRCm39) |
S143P |
probably benign |
Het |
Fam20c |
G |
A |
5: 138,793,241 (GRCm39) |
R454Q |
probably damaging |
Het |
Faxc |
C |
T |
4: 21,958,608 (GRCm39) |
S255L |
probably benign |
Het |
Fem1al |
C |
A |
11: 29,774,515 (GRCm39) |
R314L |
probably damaging |
Het |
Foxj1 |
T |
C |
11: 116,224,908 (GRCm39) |
D153G |
possibly damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Lmo7 |
T |
A |
14: 102,114,295 (GRCm39) |
Y12* |
probably null |
Het |
Matn3 |
T |
G |
12: 9,013,594 (GRCm39) |
C425W |
probably damaging |
Het |
Mmd2 |
A |
T |
5: 142,550,668 (GRCm39) |
M190K |
probably benign |
Het |
Morn2 |
A |
T |
17: 80,603,026 (GRCm39) |
T102S |
probably damaging |
Het |
Nr3c2 |
A |
C |
8: 77,912,518 (GRCm39) |
T710P |
probably benign |
Het |
Nrros |
C |
A |
16: 31,962,903 (GRCm39) |
L343F |
probably damaging |
Het |
Ntrk2 |
C |
T |
13: 59,276,000 (GRCm39) |
Q767* |
probably null |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or4k47 |
C |
T |
2: 111,452,264 (GRCm39) |
D52N |
possibly damaging |
Het |
Plekhf2 |
C |
T |
4: 10,991,330 (GRCm39) |
R4H |
probably benign |
Het |
Ppox |
A |
G |
1: 171,105,387 (GRCm39) |
|
probably benign |
Het |
Qprt |
T |
A |
7: 126,708,248 (GRCm39) |
D61V |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,148 (GRCm39) |
V1101A |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,548,202 (GRCm39) |
N124D |
probably damaging |
Het |
Scx |
C |
T |
15: 76,342,295 (GRCm39) |
P165L |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,496,055 (GRCm39) |
|
probably benign |
Het |
Serf2 |
T |
C |
2: 121,281,336 (GRCm39) |
F92L |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,910,936 (GRCm39) |
N236K |
probably damaging |
Het |
Terf2 |
G |
A |
8: 107,809,622 (GRCm39) |
T232I |
possibly damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,143,744 (GRCm39) |
E50G |
probably damaging |
Het |
Tprn |
A |
G |
2: 25,154,210 (GRCm39) |
E504G |
probably damaging |
Het |
Tufm |
G |
T |
7: 126,086,654 (GRCm39) |
R12L |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,947,195 (GRCm39) |
F519S |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,145,590 (GRCm39) |
V89A |
probably benign |
Het |
Wnt3 |
T |
C |
11: 103,703,207 (GRCm39) |
I230T |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,466,693 (GRCm39) |
F388Y |
probably damaging |
Het |
Zfp474 |
C |
T |
18: 52,771,421 (GRCm39) |
L25F |
probably benign |
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 |
IGL02750:Tbc1d32
|
APN |
10 |
56,074,587 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGCACAGGTAGGAAGCTAGAGGA -3'
(R):5'- CAAAGAGTTATGGGCTGGAGGTGTTC -3'
Sequencing Primer
(F):5'- AGCTCATGGAAGGGGGAAG -3'
(R):5'- TTTCTTAATGACAAGGCAAAGCCAC -3'
|
Posted On |
2013-07-11 |