Incidental Mutation 'R5429:Tbc1d32'
| ID |
427074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, C6orf170, Bromi, b2b2284Clo |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
56014293-56228689 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56027993 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1226
(D1226G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099739
AA Change: D1226G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: D1226G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
G |
A |
13: 66,431,828 (GRCm38) |
P199S |
probably benign |
Het |
| Akap13 |
T |
G |
7: 75,602,904 (GRCm38) |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,597,521 (GRCm38) |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,472,335 (GRCm38) |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,994,857 (GRCm38) |
V1331I |
possibly damaging |
Het |
| Ciz1 |
T |
A |
2: 32,376,043 (GRCm38) |
I609K |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,846,459 (GRCm38) |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 103,052,841 (GRCm38) |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,482,054 (GRCm38) |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,616,789 (GRCm38) |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,832,881 (GRCm38) |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,570,255 (GRCm38) |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,445,147 (GRCm38) |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,388,675 (GRCm38) |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,179,423 (GRCm38) |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,989,961 (GRCm38) |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,275,013 (GRCm38) |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,923,521 (GRCm38) |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,393,323 (GRCm38) |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,772,769 (GRCm38) |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,577,229 (GRCm38) |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,219,667 (GRCm38) |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,599,960 (GRCm38) |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,832,332 (GRCm38) |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 (GRCm38) |
C705R |
probably damaging |
Het |
| Olfr318 |
T |
A |
11: 58,720,524 (GRCm38) |
N175Y |
probably damaging |
Het |
| Olfr60 |
A |
G |
7: 140,345,273 (GRCm38) |
F239L |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,384,200 (GRCm38) |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,091,560 (GRCm38) |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,023,756 (GRCm38) |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,453,763 (GRCm38) |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,345,355 (GRCm38) |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,272,602 (GRCm38) |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,588,822 (GRCm38) |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,197,110 (GRCm38) |
P903T |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 116,006,925 (GRCm38) |
S31P |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,373,263 (GRCm38) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,642,795 (GRCm38) |
G461R |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,882,314 (GRCm38) |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,789,622 (GRCm38) |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,934,856 (GRCm38) |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,849,955 (GRCm38) |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,074 (GRCm38) |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,243,953 (GRCm38) |
I330T |
possibly damaging |
Het |
| Vil1 |
C |
T |
1: 74,432,331 (GRCm38) |
T757I |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 (GRCm38) |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,732,848 (GRCm38) |
E686V |
possibly 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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTCTTGATAACATTTGACAGT -3'
(R):5'- TCATGTATTACCGTTCAAGACTTTT -3'
Sequencing Primer
(F):5'- AATCCTCTGGAACTGTGAGC -3'
(R):5'- GACTTTTTAATAAGCAAGTGTGGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation