Incidental Mutation 'IGL01667:Tbc1d12'
ID |
103355 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d12
|
Ensembl Gene |
ENSMUSG00000048720 |
Gene Name |
TBC1D12: TBC1 domain family, member 12 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.619)
|
Stock # |
IGL01667
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
38825035-38908103 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 38902744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037884
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037302]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037302
|
SMART Domains |
Protein: ENSMUSP00000037884 Gene: ENSMUSG00000048720
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
low complexity region
|
67 |
95 |
N/A |
INTRINSIC |
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
Blast:TBC
|
321 |
371 |
7e-14 |
BLAST |
TBC
|
404 |
638 |
1.05e-54 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
Other mutations in Tbc1d12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Tbc1d12
|
APN |
19 |
38,884,487 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01583:Tbc1d12
|
APN |
19 |
38,871,176 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02207:Tbc1d12
|
APN |
19 |
38,905,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03348:Tbc1d12
|
APN |
19 |
38,905,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R0844:Tbc1d12
|
UTSW |
19 |
38,825,515 (GRCm39) |
missense |
probably benign |
0.02 |
R0919:Tbc1d12
|
UTSW |
19 |
38,902,493 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1440:Tbc1d12
|
UTSW |
19 |
38,902,796 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1845:Tbc1d12
|
UTSW |
19 |
38,899,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R2374:Tbc1d12
|
UTSW |
19 |
38,825,614 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3499:Tbc1d12
|
UTSW |
19 |
38,884,478 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4704:Tbc1d12
|
UTSW |
19 |
38,889,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Tbc1d12
|
UTSW |
19 |
38,854,169 (GRCm39) |
nonsense |
probably null |
|
R5089:Tbc1d12
|
UTSW |
19 |
38,905,232 (GRCm39) |
nonsense |
probably null |
|
R5781:Tbc1d12
|
UTSW |
19 |
38,871,127 (GRCm39) |
missense |
probably benign |
0.00 |
R7237:Tbc1d12
|
UTSW |
19 |
38,887,346 (GRCm39) |
missense |
probably benign |
0.10 |
R7978:Tbc1d12
|
UTSW |
19 |
38,905,285 (GRCm39) |
missense |
probably benign |
0.01 |
R8283:Tbc1d12
|
UTSW |
19 |
38,825,353 (GRCm39) |
missense |
probably benign |
0.43 |
R8304:Tbc1d12
|
UTSW |
19 |
38,825,824 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8376:Tbc1d12
|
UTSW |
19 |
38,889,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8931:Tbc1d12
|
UTSW |
19 |
38,854,098 (GRCm39) |
missense |
probably benign |
|
R8944:Tbc1d12
|
UTSW |
19 |
38,899,510 (GRCm39) |
missense |
probably damaging |
0.98 |
R9206:Tbc1d12
|
UTSW |
19 |
38,825,442 (GRCm39) |
missense |
probably benign |
0.08 |
R9252:Tbc1d12
|
UTSW |
19 |
38,899,477 (GRCm39) |
missense |
probably benign |
0.42 |
R9258:Tbc1d12
|
UTSW |
19 |
38,889,823 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9430:Tbc1d12
|
UTSW |
19 |
38,884,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R9434:Tbc1d12
|
UTSW |
19 |
38,902,461 (GRCm39) |
missense |
probably benign |
0.05 |
RF010:Tbc1d12
|
UTSW |
19 |
38,825,384 (GRCm39) |
small deletion |
probably benign |
|
RF011:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
RF039:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2014-01-21 |