Incidental Mutation 'R6103:Tbc1d32'
ID |
485389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d32
|
Ensembl Gene |
ENSMUSG00000038122 |
Gene Name |
TBC1 domain family, member 32 |
Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
MMRRC Submission |
044253-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R6103 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56026979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 757
(W757R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
AlphaFold |
Q3URV1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099739
AA Change: W757R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097328 Gene: ENSMUSG00000038122 AA Change: W757R
Domain | Start | End | E-Value | Type |
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,768,445 (GRCm39) |
S926P |
possibly damaging |
Het |
Acacb |
T |
A |
5: 114,383,942 (GRCm39) |
M2157K |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,797,452 (GRCm39) |
V636A |
probably benign |
Het |
Adgrf3 |
T |
C |
5: 30,401,265 (GRCm39) |
Y51C |
probably damaging |
Het |
Adprhl1 |
T |
C |
8: 13,272,055 (GRCm39) |
T1568A |
possibly damaging |
Het |
Ank1 |
T |
A |
8: 23,603,999 (GRCm39) |
S937T |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,508,578 (GRCm39) |
E340G |
probably damaging |
Het |
Avpr1b |
C |
T |
1: 131,537,155 (GRCm39) |
P90S |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 29,118,446 (GRCm39) |
H159R |
probably damaging |
Het |
Carmil3 |
A |
T |
14: 55,742,884 (GRCm39) |
T1185S |
probably benign |
Het |
Casp2 |
A |
T |
6: 42,256,814 (GRCm39) |
R357S |
probably damaging |
Het |
Ccdc34 |
A |
G |
2: 109,848,352 (GRCm39) |
D47G |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,605,596 (GRCm39) |
|
probably null |
Het |
Cd209d |
T |
C |
8: 3,928,304 (GRCm39) |
Y27C |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,800,322 (GRCm39) |
D1176V |
probably benign |
Het |
Cpd |
A |
T |
11: 76,690,625 (GRCm39) |
S844T |
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,968,864 (GRCm39) |
L380P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,626,781 (GRCm39) |
V376A |
probably benign |
Het |
Enam |
T |
A |
5: 88,650,187 (GRCm39) |
N565K |
probably damaging |
Het |
Fam110c |
G |
A |
12: 31,124,794 (GRCm39) |
W252* |
probably null |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Fgb |
T |
C |
3: 82,951,170 (GRCm39) |
D281G |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,457,209 (GRCm39) |
T2048S |
probably benign |
Het |
Fut8 |
A |
T |
12: 77,378,721 (GRCm39) |
|
probably benign |
Het |
Glmp |
T |
C |
3: 88,235,338 (GRCm39) |
S238P |
probably benign |
Het |
Gm35315 |
T |
A |
5: 110,226,137 (GRCm39) |
Y434F |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,620,856 (GRCm39) |
F71S |
probably damaging |
Het |
Gpnmb |
A |
G |
6: 49,019,820 (GRCm39) |
R64G |
possibly damaging |
Het |
Grxcr1 |
T |
C |
5: 68,323,547 (GRCm39) |
F275S |
possibly damaging |
Het |
Ift140 |
T |
A |
17: 25,312,100 (GRCm39) |
C1314S |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,318,917 (GRCm39) |
I127T |
possibly damaging |
Het |
Mmd2 |
A |
G |
5: 142,553,618 (GRCm39) |
|
probably null |
Het |
Ms4a3 |
A |
T |
19: 11,616,582 (GRCm39) |
V20D |
possibly damaging |
Het |
Mtres1 |
A |
T |
10: 43,408,916 (GRCm39) |
Y76N |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,460,663 (GRCm39) |
E272G |
probably damaging |
Het |
Naaladl1 |
G |
A |
19: 6,158,743 (GRCm39) |
G292S |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,043,059 (GRCm39) |
Y1475N |
possibly damaging |
Het |
Obp2a |
G |
A |
2: 25,590,163 (GRCm39) |
E21K |
probably damaging |
Het |
Or5ar1 |
A |
G |
2: 85,671,776 (GRCm39) |
Y120H |
probably damaging |
Het |
Osbpl10 |
T |
A |
9: 114,890,940 (GRCm39) |
Y109* |
probably null |
Het |
Plcd1 |
A |
T |
9: 118,901,109 (GRCm39) |
W749R |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,377,704 (GRCm39) |
E718G |
possibly damaging |
Het |
Rbm4 |
C |
T |
19: 4,837,947 (GRCm39) |
R295H |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Setdb2 |
T |
C |
14: 59,646,981 (GRCm39) |
|
probably null |
Het |
Slc25a18 |
C |
A |
6: 120,766,399 (GRCm39) |
L131I |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,064,809 (GRCm39) |
H221R |
probably damaging |
Het |
Tmem183a |
C |
A |
1: 134,275,884 (GRCm39) |
V331L |
probably benign |
Het |
Try10 |
C |
A |
6: 41,333,484 (GRCm39) |
H76Q |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,748,599 (GRCm39) |
H4150L |
probably benign |
Het |
Vmn2r52 |
G |
A |
7: 9,905,327 (GRCm39) |
P171S |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,652,826 (GRCm39) |
T450A |
probably benign |
Het |
Yipf7 |
A |
T |
5: 69,698,405 (GRCm39) |
V34D |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zg16 |
A |
G |
7: 126,649,748 (GRCm39) |
V71A |
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 |
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 |
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'- ACACGGGTAAGGTTTATGGAGTC -3'
(R):5'- GCCTGCCCTACTTTGTGATG -3'
Sequencing Primer
(F):5'- ATGGAGTCATTTCTGCTCCTCAG -3'
(R):5'- TAGCAAGTACCATTCCTATCAAGGG -3'
|
Posted On |
2017-08-16 |