Incidental Mutation 'R8338:Tbc1d32'
| ID |
644751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
| MMRRC Submission |
067730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R8338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55904173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1198
(Q1198L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: Q1198L
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: Q1198L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
T |
C |
5: 137,290,006 (GRCm39) |
L445P |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,253,018 (GRCm39) |
T1773I |
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,106,683 (GRCm39) |
S1387P |
probably damaging |
Het |
| Bcl11a |
G |
C |
11: 24,114,578 (GRCm39) |
K640N |
probably damaging |
Het |
| Bicd1 |
G |
A |
6: 149,414,621 (GRCm39) |
V445I |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,095,669 (GRCm39) |
N26S |
probably damaging |
Het |
| C2cd6 |
A |
C |
1: 59,099,734 (GRCm39) |
N402K |
probably benign |
Het |
| Celsr3 |
C |
T |
9: 108,704,539 (GRCm39) |
Q341* |
probably null |
Het |
| Cers1 |
A |
G |
8: 70,783,772 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cfap157 |
G |
T |
2: 32,668,018 (GRCm39) |
T441N |
possibly damaging |
Het |
| Cfap44 |
G |
A |
16: 44,239,698 (GRCm39) |
|
probably null |
Het |
| Chd1 |
A |
G |
17: 15,990,242 (GRCm39) |
Y1598C |
probably damaging |
Het |
| Ckap2l |
T |
G |
2: 129,126,939 (GRCm39) |
Q413P |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,203,696 (GRCm39) |
E1002G |
probably benign |
Het |
| Cryge |
G |
A |
1: 65,087,933 (GRCm39) |
T156M |
unknown |
Het |
| Cubn |
A |
C |
2: 13,435,658 (GRCm39) |
F1099L |
probably benign |
Het |
| Cyp7b1 |
T |
C |
3: 18,151,730 (GRCm39) |
E161G |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,909,566 (GRCm39) |
E4452G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,378,122 (GRCm39) |
R1273Q |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,671,104 (GRCm39) |
E593G |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,732,067 (GRCm39) |
|
probably null |
Het |
| Dnajc22 |
C |
A |
15: 98,999,022 (GRCm39) |
P69Q |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,329,172 (GRCm39) |
D529V |
probably benign |
Het |
| Fbxl17 |
T |
C |
17: 63,663,753 (GRCm39) |
I579V |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Gm13272 |
A |
C |
4: 88,698,364 (GRCm39) |
D93A |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,977 (GRCm39) |
F658I |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,614,485 (GRCm39) |
T1307I |
probably benign |
Het |
| Igkv12-98 |
G |
A |
6: 68,548,159 (GRCm39) |
S96N |
probably benign |
Het |
| Il2ra |
A |
T |
2: 11,687,885 (GRCm39) |
T222S |
probably benign |
Het |
| Il5ra |
G |
T |
6: 106,689,350 (GRCm39) |
T414K |
probably benign |
Het |
| Isg15 |
T |
A |
4: 156,284,088 (GRCm39) |
I147F |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,422,416 (GRCm39) |
A902E |
probably damaging |
Het |
| Lcat |
G |
A |
8: 106,666,719 (GRCm39) |
R268C |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,477 (GRCm39) |
N366S |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,713 (GRCm39) |
T1101A |
probably benign |
Het |
| Man1a |
T |
A |
10: 53,801,643 (GRCm39) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,726,372 (GRCm39) |
D23G |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,355,387 (GRCm39) |
M795K |
probably benign |
Het |
| Msantd5f1 |
T |
A |
4: 73,605,435 (GRCm39) |
M282K |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,372,701 (GRCm39) |
E4048D |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,104,408 (GRCm39) |
S1447P |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,443,655 (GRCm39) |
T536S |
possibly damaging |
Het |
| Nod1 |
A |
T |
6: 54,920,956 (GRCm39) |
L454Q |
probably damaging |
Het |
| Nrf1 |
T |
A |
6: 30,140,247 (GRCm39) |
W199R |
|
Het |
| Or10w1 |
T |
A |
19: 13,632,216 (GRCm39) |
M141K |
possibly damaging |
Het |
| Or13a27 |
T |
A |
7: 139,925,306 (GRCm39) |
M199L |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,702 (GRCm39) |
I44T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,275,729 (GRCm39) |
M199K |
probably benign |
Het |
| Or9a4 |
T |
C |
6: 40,548,910 (GRCm39) |
F197L |
probably benign |
Het |
| Ostn |
G |
T |
16: 27,143,285 (GRCm39) |
A38S |
probably benign |
Het |
| Paxbp1 |
A |
T |
16: 90,833,435 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,175 (GRCm39) |
G427V |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,783 (GRCm39) |
M961K |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Prdx5 |
T |
C |
19: 6,884,632 (GRCm39) |
D148G |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,301,481 (GRCm39) |
I217N |
possibly damaging |
Het |
| Rccd1 |
A |
T |
7: 79,970,618 (GRCm39) |
L54Q |
possibly damaging |
Het |
| Rfx6 |
T |
A |
10: 51,594,190 (GRCm39) |
V370E |
probably damaging |
Het |
| Sdr16c6 |
C |
T |
4: 4,076,620 (GRCm39) |
C93Y |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,107 (GRCm39) |
D9G |
probably benign |
Het |
| Snrpe |
A |
G |
1: 133,536,681 (GRCm39) |
V33A |
probably benign |
Het |
| Spats2 |
T |
A |
15: 99,076,340 (GRCm39) |
D139E |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,285 (GRCm39) |
I94V |
possibly damaging |
Het |
| St18 |
A |
G |
1: 6,879,516 (GRCm39) |
E405G |
probably damaging |
Het |
| Strap |
A |
T |
6: 137,718,976 (GRCm39) |
E176V |
possibly damaging |
Het |
| Stxbp5l |
G |
T |
16: 36,994,718 (GRCm39) |
T729K |
probably damaging |
Het |
| Synj2bp |
G |
A |
12: 81,551,326 (GRCm39) |
Q97* |
probably null |
Het |
| Tmem98 |
T |
C |
11: 80,712,135 (GRCm39) |
S191P |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,595,808 (GRCm39) |
N366S |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,750,136 (GRCm39) |
S3638R |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,266,602 (GRCm39) |
L124P |
probably damaging |
Het |
| V1rd19 |
A |
T |
7: 23,702,674 (GRCm39) |
K47* |
probably null |
Het |
| Wdhd1 |
T |
C |
14: 47,506,120 (GRCm39) |
M265V |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,137,103 (GRCm39) |
D168G |
probably damaging |
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 |
|
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 |
|
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'- AAAGACTTGCAGATCTTGAGTCTG -3'
(R):5'- CATCAGGTCCTTAGCTCCTG -3'
Sequencing Primer
(F):5'- CTGGGTATGCTGGAGAATATCTCGC -3'
(R):5'- AGGTCCTTAGCTCCTGAATCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation