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, Bromi, b2b2284Clo, C6orf170 |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55904089 bp (GRCm39)
|
| 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 |
|---|
| Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
| Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
| Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
| Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
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 |
|
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 |
|
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'- CAGAGTCTTGATAACATTTGACAGT -3'
(R):5'- TCATGTATTACCGTTCAAGACTTTT -3'
Sequencing Primer
(F):5'- AATCCTCTGGAACTGTGAGC -3'
(R):5'- GACTTTTTAATAAGCAAGTGTGGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation