Incidental Mutation 'R6277:Tbc1d32'
| ID |
507725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
| MMRRC Submission |
044447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R6277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56071525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 333
(P333L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099739
AA Change: P333L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: P333L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (70/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,651 (GRCm39) |
Y105H |
possibly damaging |
Het |
| 4921539E11Rik |
A |
T |
4: 103,088,668 (GRCm39) |
Y179* |
probably null |
Het |
| Abca7 |
G |
C |
10: 79,841,992 (GRCm39) |
V1042L |
probably benign |
Het |
| Adck5 |
C |
A |
15: 76,477,463 (GRCm39) |
T99K |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,109,896 (GRCm39) |
T823A |
probably benign |
Het |
| Adra1d |
G |
T |
2: 131,403,083 (GRCm39) |
R336S |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,619,337 (GRCm39) |
M749K |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,086,665 (GRCm39) |
R168G |
possibly damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,893 (GRCm39) |
T317A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,863,731 (GRCm39) |
K22E |
possibly damaging |
Het |
| Cacna1b |
T |
G |
2: 24,620,808 (GRCm39) |
T281P |
probably damaging |
Het |
| Ccdc174 |
A |
T |
6: 91,857,272 (GRCm39) |
Q26L |
probably damaging |
Het |
| Celf3 |
T |
C |
3: 94,392,672 (GRCm39) |
C124R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,257,669 (GRCm39) |
E1068G |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,873,255 (GRCm39) |
E1284D |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,272,119 (GRCm39) |
Y392N |
probably damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,285,866 (GRCm39) |
P675L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,439 (GRCm39) |
H1193L |
probably damaging |
Het |
| Efcab3 |
G |
C |
11: 104,901,148 (GRCm39) |
E4422D |
possibly damaging |
Het |
| Ern2 |
A |
G |
7: 121,785,330 (GRCm39) |
F16L |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,763 (GRCm39) |
T78N |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,623 (GRCm39) |
I299K |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,299 (GRCm39) |
N344S |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,871,308 (GRCm39) |
I202T |
probably damaging |
Het |
| Gm11595 |
G |
T |
11: 99,663,510 (GRCm39) |
P57T |
unknown |
Het |
| Gm12258 |
G |
A |
11: 58,745,113 (GRCm39) |
V15M |
probably damaging |
Het |
| Gm15056 |
C |
T |
8: 21,390,914 (GRCm39) |
G40S |
probably damaging |
Het |
| Gnal |
C |
A |
18: 67,346,143 (GRCm39) |
H274Q |
probably damaging |
Het |
| Hormad2 |
A |
T |
11: 4,371,583 (GRCm39) |
|
probably null |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,087 (GRCm39) |
I6T |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,109 (GRCm39) |
D323G |
probably benign |
Het |
| Klhl23 |
G |
T |
2: 69,664,096 (GRCm39) |
D482Y |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,982,006 (GRCm39) |
N1745S |
probably damaging |
Het |
| Lct |
T |
A |
1: 128,231,974 (GRCm39) |
Y625F |
probably benign |
Het |
| Lrrc26 |
T |
C |
2: 25,180,116 (GRCm39) |
V39A |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,564,774 (GRCm39) |
A527T |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,120,880 (GRCm39) |
D698G |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,520 (GRCm39) |
S269T |
probably benign |
Het |
| Pacsin1 |
T |
A |
17: 27,924,969 (GRCm39) |
|
probably null |
Het |
| Padi3 |
A |
T |
4: 140,518,472 (GRCm39) |
|
probably null |
Het |
| Pcdha8 |
T |
C |
18: 37,127,411 (GRCm39) |
I631T |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,972,957 (GRCm39) |
G315D |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,907,422 (GRCm39) |
D228E |
probably benign |
Het |
| Prag1 |
G |
T |
8: 36,613,745 (GRCm39) |
R1099L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,223 (GRCm39) |
E421G |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,541,883 (GRCm39) |
S369P |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Slc9c1 |
G |
A |
16: 45,427,204 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,588,948 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Smcr8 |
C |
T |
11: 60,669,635 (GRCm39) |
T261M |
probably benign |
Het |
| Spata17 |
G |
A |
1: 186,926,151 (GRCm39) |
R60* |
probably null |
Het |
| Speer4f1 |
A |
G |
5: 17,681,241 (GRCm39) |
R40G |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,420,466 (GRCm39) |
V340A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,716,344 (GRCm39) |
I595V |
probably benign |
Het |
| Srms |
G |
A |
2: 180,848,038 (GRCm39) |
A489V |
possibly damaging |
Het |
| St3gal4 |
T |
C |
9: 34,964,558 (GRCm39) |
N169S |
probably damaging |
Het |
| Taar5 |
T |
A |
10: 23,847,169 (GRCm39) |
V189E |
probably damaging |
Het |
| Tet3 |
G |
T |
6: 83,345,066 (GRCm39) |
Y1790* |
probably null |
Het |
| Ticrr |
T |
A |
7: 79,344,444 (GRCm39) |
H1436Q |
probably benign |
Het |
| Top6bl |
G |
T |
19: 4,677,250 (GRCm39) |
S466* |
probably null |
Het |
| Ubl7 |
C |
T |
9: 57,830,555 (GRCm39) |
L334F |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,119,283 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,606,451 (GRCm39) |
D1303G |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,509,954 (GRCm39) |
L842P |
possibly damaging |
Het |
| Vps35 |
G |
T |
8: 85,987,857 (GRCm39) |
Q765K |
possibly damaging |
Het |
| Zfp87 |
G |
T |
13: 74,520,643 (GRCm39) |
S145* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,392,461 (GRCm39) |
A1327V |
possibly damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,718,983 (GRCm39) |
S334R |
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 |
|
R6103:Tbc1d32
|
UTSW |
10 |
56,026,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCCGTGTACAGGTTAAAGGC -3'
(R):5'- AAGAGTGAGTGTGGCTCTTAGC -3'
Sequencing Primer
(F):5'- CCAGTCCCTCAAATGATAGAG -3'
(R):5'- CCCAAACTCAGGTATATGGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation