Incidental Mutation 'R5795:Tbc1d32'
| ID |
447184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, C6orf170, Bromi, b2b2284Clo |
| MMRRC Submission |
043386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R5795 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
56014293-56228689 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56215062 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 125
(M125K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: M125K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: M125K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acpp |
A |
G |
9: 104,309,489 (GRCm38) |
V261A |
probably benign |
Het |
| Adipor1 |
C |
A |
1: 134,424,903 (GRCm38) |
N137K |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 9,012,382 (GRCm38) |
K3677* |
probably null |
Het |
| Ankrd24 |
C |
A |
10: 81,645,103 (GRCm38) |
|
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,942,816 (GRCm38) |
P420Q |
probably benign |
Het |
| Bmp8b |
C |
A |
4: 123,121,968 (GRCm38) |
F249L |
possibly damaging |
Het |
| Brat1 |
G |
T |
5: 140,713,072 (GRCm38) |
A275S |
probably benign |
Het |
| C5ar1 |
T |
C |
7: 16,248,394 (GRCm38) |
K234E |
possibly damaging |
Het |
| Ccs |
A |
G |
19: 4,833,339 (GRCm38) |
|
probably null |
Het |
| Chmp5 |
T |
G |
4: 40,950,562 (GRCm38) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 55,015,268 (GRCm38) |
T419S |
probably benign |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 141,041,807 (GRCm38) |
|
probably null |
Het |
| Csf3 |
G |
T |
11: 98,702,027 (GRCm38) |
C72F |
probably damaging |
Het |
| Dbndd1 |
A |
G |
8: 123,509,880 (GRCm38) |
I83T |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,526,352 (GRCm38) |
K287E |
probably damaging |
Het |
| F5 |
C |
T |
1: 164,152,009 (GRCm38) |
T16I |
probably benign |
Het |
| Gif |
A |
G |
19: 11,760,376 (GRCm38) |
T384A |
probably damaging |
Het |
| Gm14085 |
T |
C |
2: 122,517,994 (GRCm38) |
M274T |
possibly damaging |
Het |
| Hephl1 |
C |
T |
9: 15,069,760 (GRCm38) |
G792E |
probably damaging |
Het |
| Hmmr |
T |
A |
11: 40,721,906 (GRCm38) |
D158V |
probably damaging |
Het |
| Hsd11b1 |
A |
G |
1: 193,240,632 (GRCm38) |
S76P |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,577,144 (GRCm38) |
S167P |
probably benign |
Het |
| Irf7 |
G |
A |
7: 141,265,116 (GRCm38) |
P118L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,796,727 (GRCm38) |
N1981S |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,474,471 (GRCm38) |
D224G |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,607,790 (GRCm38) |
Y594H |
possibly damaging |
Het |
| Minpp1 |
G |
A |
19: 32,514,157 (GRCm38) |
V412M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,871,741 (GRCm38) |
V4708M |
possibly damaging |
Het |
| Mycl |
G |
A |
4: 122,996,622 (GRCm38) |
E34K |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,223,944 (GRCm38) |
D179V |
probably damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,114,761 (GRCm38) |
G278D |
probably damaging |
Het |
| Olfr1448 |
A |
G |
19: 12,919,824 (GRCm38) |
F162L |
possibly damaging |
Het |
| Olfr91 |
A |
G |
17: 37,093,769 (GRCm38) |
L35P |
probably damaging |
Het |
| Paf1 |
T |
G |
7: 28,396,618 (GRCm38) |
M250R |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 79,770,980 (GRCm38) |
T48A |
possibly damaging |
Het |
| Pdzph1 |
A |
G |
17: 58,885,867 (GRCm38) |
V1096A |
possibly damaging |
Het |
| Polr3b |
T |
C |
10: 84,677,011 (GRCm38) |
S586P |
probably damaging |
Het |
| Polr3b |
A |
T |
10: 84,628,252 (GRCm38) |
E25D |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,153,384 (GRCm38) |
|
probably benign |
Het |
| Slc31a2 |
T |
C |
4: 62,297,052 (GRCm38) |
V112A |
probably damaging |
Het |
| Spire1 |
A |
T |
18: 67,495,195 (GRCm38) |
S412T |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,807,582 (GRCm38) |
T876A |
possibly damaging |
Het |
| Tango6 |
T |
A |
8: 106,718,077 (GRCm38) |
L538H |
probably damaging |
Het |
| Tas2r125 |
G |
A |
6: 132,909,658 (GRCm38) |
G3D |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,999,846 (GRCm38) |
S345G |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,443,397 (GRCm38) |
I1231F |
probably benign |
Het |
| Vmn2r104 |
G |
T |
17: 20,030,110 (GRCm38) |
T633N |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,030,282 (GRCm38) |
S576P |
possibly damaging |
Het |
| Vmn2r105 |
A |
T |
17: 20,228,736 (GRCm38) |
C60S |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,262,839 (GRCm38) |
D217E |
unknown |
Het |
| Zfp456 |
A |
T |
13: 67,366,920 (GRCm38) |
D222E |
probably benign |
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 |
|
R5429:Tbc1d32
|
UTSW |
10 |
56,027,993 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGACTTGAACACACAGTCATGTC -3'
(R):5'- ACTTCGCTAGCCTGTTGTGC -3'
Sequencing Primer
(F):5'- GTCATGTCACACACATAGTCAAGAG -3'
(R):5'- GCCTGTTGTGCCATTTTTATGAAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation