Incidental Mutation 'IGL02008:Tbc1d32'
| ID |
183223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d32
|
| Ensembl Gene |
ENSMUSG00000038122 |
| Gene Name |
TBC1 domain family, member 32 |
| Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
IGL02008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56027871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 744
(Q744K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
| AlphaFold |
Q3URV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: Q744K
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: Q744K
| 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 |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,969,750 (GRCm39) |
T2252A |
probably benign |
Het |
| Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
| Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,671,766 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
| Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,291 (GRCm39) |
V161D |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
| Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
| Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
| Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
| Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
| Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
| Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
| Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
| Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
| Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
| Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,219 (GRCm39) |
T442A |
probably benign |
Het |
| Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
| Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
| Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
| Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
| Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,260,129 (GRCm39) |
R45W |
probably damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
| Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
| Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
| Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation