Incidental Mutation 'R5358:Tbc1d32'
ID |
424184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d32
|
Ensembl Gene |
ENSMUSG00000038122 |
Gene Name |
TBC1 domain family, member 32 |
Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
MMRRC Submission |
042937-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.922)
|
Stock # |
R5358 (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 56047033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 545
(H545R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
AlphaFold |
Q3URV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: H545R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097328 Gene: ENSMUSG00000038122 AA Change: H545R
Domain | Start | End | E-Value | Type |
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,849,165 (GRCm39) |
V1842A |
probably damaging |
Het |
Abi3 |
A |
T |
11: 95,732,934 (GRCm39) |
F13L |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,125,758 (GRCm39) |
K538R |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,342,581 (GRCm39) |
H191Y |
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,886,538 (GRCm39) |
T376A |
probably benign |
Het |
Ceacam18 |
C |
A |
7: 43,286,497 (GRCm39) |
N123K |
possibly damaging |
Het |
Celsr3 |
C |
T |
9: 108,709,224 (GRCm39) |
R1357C |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 110,989,148 (GRCm39) |
|
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
Chrm2 |
A |
G |
6: 36,500,290 (GRCm39) |
K49R |
probably damaging |
Het |
Ciao2b |
T |
C |
8: 105,368,282 (GRCm39) |
N14S |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,999,233 (GRCm39) |
L623* |
probably null |
Het |
Ddx31 |
T |
A |
2: 28,753,782 (GRCm39) |
C448S |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,586,331 (GRCm39) |
S1507P |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,965,928 (GRCm39) |
T2420K |
probably damaging |
Het |
Dyrk3 |
C |
T |
1: 131,057,432 (GRCm39) |
R247H |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,242,934 (GRCm39) |
E49G |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,476,596 (GRCm39) |
E258G |
probably damaging |
Het |
Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,877,321 (GRCm39) |
E1106K |
probably damaging |
Het |
Hip1 |
G |
T |
5: 135,465,252 (GRCm39) |
S385R |
probably benign |
Het |
Igsf9 |
C |
T |
1: 172,312,078 (GRCm39) |
T8I |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,105,190 (GRCm39) |
Y86H |
possibly damaging |
Het |
Kcnh6 |
A |
T |
11: 105,918,417 (GRCm39) |
I756F |
possibly damaging |
Het |
Kdm5b |
C |
T |
1: 134,535,432 (GRCm39) |
R570* |
probably null |
Het |
Kif16b |
T |
A |
2: 142,582,889 (GRCm39) |
R545S |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,100,030 (GRCm39) |
I1528N |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,730,571 (GRCm39) |
|
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,507,597 (GRCm39) |
T60A |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,907 (GRCm39) |
K1466E |
probably damaging |
Het |
Ntsr2 |
A |
C |
12: 16,704,083 (GRCm39) |
T109P |
probably damaging |
Het |
Nup214 |
C |
A |
2: 31,907,158 (GRCm39) |
S995Y |
unknown |
Het |
Or2a5 |
A |
T |
6: 42,873,454 (GRCm39) |
Q23L |
probably benign |
Het |
Pclo |
T |
A |
5: 14,762,750 (GRCm39) |
L456* |
probably null |
Het |
Pde5a |
A |
G |
3: 122,541,825 (GRCm39) |
D105G |
probably damaging |
Het |
Pik3c3 |
C |
A |
18: 30,456,597 (GRCm39) |
P709H |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rab3c |
T |
C |
13: 110,198,497 (GRCm39) |
N179S |
possibly damaging |
Het |
Setdb2 |
T |
A |
14: 59,646,885 (GRCm39) |
R559S |
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,042,469 (GRCm39) |
Y474H |
probably benign |
Het |
Slc6a6 |
G |
T |
6: 91,712,155 (GRCm39) |
W228L |
probably benign |
Het |
Slc8a2 |
T |
G |
7: 15,891,228 (GRCm39) |
I750S |
probably damaging |
Het |
Slco2b1 |
T |
A |
7: 99,309,251 (GRCm39) |
I194L |
unknown |
Het |
Smarcd1 |
C |
T |
15: 99,601,128 (GRCm39) |
Q45* |
probably null |
Het |
Srcap |
T |
G |
7: 127,139,492 (GRCm39) |
L1271R |
probably damaging |
Het |
Srsf12 |
A |
T |
4: 33,209,330 (GRCm39) |
N9Y |
probably damaging |
Het |
St7 |
T |
C |
6: 17,819,317 (GRCm39) |
S74P |
probably damaging |
Het |
Stxbp5l |
T |
A |
16: 36,994,688 (GRCm39) |
E739V |
probably damaging |
Het |
Sun3 |
T |
A |
11: 8,981,496 (GRCm39) |
Q36L |
possibly damaging |
Het |
Tcp11 |
A |
T |
17: 28,296,994 (GRCm39) |
C133S |
probably benign |
Het |
Tm6sf2 |
T |
C |
8: 70,526,939 (GRCm39) |
V36A |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,717 (GRCm39) |
Y244C |
probably damaging |
Het |
Tra2a |
A |
T |
6: 49,227,949 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,903,332 (GRCm39) |
I1031F |
probably damaging |
Het |
Ttll3 |
A |
G |
6: 113,378,292 (GRCm39) |
K381E |
probably benign |
Het |
Uaca |
T |
C |
9: 60,778,430 (GRCm39) |
V937A |
probably benign |
Het |
Umod |
C |
T |
7: 119,071,577 (GRCm39) |
G388D |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,924,412 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp644 |
G |
A |
5: 106,783,541 (GRCm39) |
T1002I |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,819,131 (GRCm39) |
Y287H |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,644,771 (GRCm39) |
T1144A |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,361,352 (GRCm39) |
|
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 |
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 |
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'- CCATCTGGAATGATTGCTACTATC -3'
(R):5'- CCGGCATTTGTGAAGGTTTC -3'
Sequencing Primer
(F):5'- ACTCTCCAGGGATGTCTGAATGC -3'
(R):5'- TCTGTTGTTGTACTTGCGATATAAC -3'
|
Posted On |
2016-08-04 |