Incidental Mutation 'IGL01161:Tbc1d15'
| ID |
53792 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d15
|
| Ensembl Gene |
ENSMUSG00000020130 |
| Gene Name |
TBC1 domain family, member 15 |
| Synonyms |
Ly6dl, 4432405K22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
IGL01161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115033777-115087372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115038435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 593
(I593V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020339]
|
| AlphaFold |
Q9CXF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020339
AA Change: I593V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: I593V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
6 |
224 |
1.3e-87 |
PFAM |
|
TBC
|
326 |
564 |
1.14e-50 |
SMART |
|
Blast:TBC
|
602 |
671 |
5e-23 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217843
|
| 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 member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,535,463 (GRCm39) |
D543E |
probably benign |
Het |
| Acad9 |
A |
C |
3: 36,144,274 (GRCm39) |
N583T |
possibly damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,563,643 (GRCm39) |
V205M |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,392,674 (GRCm39) |
R2068Q |
probably damaging |
Het |
| Bex3 |
T |
C |
X: 135,172,218 (GRCm39) |
F60S |
probably damaging |
Het |
| Casd1 |
C |
T |
6: 4,619,833 (GRCm39) |
P193S |
possibly damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,712,435 (GRCm39) |
I295F |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,885,782 (GRCm39) |
N128K |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,176 (GRCm39) |
E372K |
probably damaging |
Het |
| Ddb1 |
T |
G |
19: 10,583,071 (GRCm39) |
M1R |
probably null |
Het |
| Ecel1 |
T |
C |
1: 87,080,915 (GRCm39) |
D329G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,017 (GRCm39) |
N1899D |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,722,983 (GRCm39) |
|
probably null |
Het |
| Gm20507 |
A |
T |
17: 33,863,727 (GRCm39) |
|
probably benign |
Het |
| Gml |
T |
G |
15: 74,685,688 (GRCm39) |
Y99S |
probably damaging |
Het |
| Gpr119 |
G |
T |
X: 47,762,125 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,458 (GRCm39) |
Y237H |
unknown |
Het |
| Hook2 |
G |
A |
8: 85,721,560 (GRCm39) |
V273I |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,338,849 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,369,279 (GRCm39) |
F1112S |
probably benign |
Het |
| Lpl |
A |
T |
8: 69,345,277 (GRCm39) |
K94* |
probably null |
Het |
| Lrrc8a |
T |
A |
2: 30,145,822 (GRCm39) |
L212Q |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,903,887 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
A |
T |
10: 75,762,655 (GRCm39) |
M266K |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,622,399 (GRCm39) |
V162E |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,752,711 (GRCm39) |
|
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,337,588 (GRCm39) |
V122A |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,708 (GRCm39) |
L167H |
probably damaging |
Het |
| Reps1 |
T |
C |
10: 17,969,643 (GRCm39) |
S249P |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,763 (GRCm39) |
M299K |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,747,759 (GRCm39) |
V344A |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,146,569 (GRCm39) |
P358S |
probably damaging |
Het |
| Syt9 |
G |
T |
7: 107,024,356 (GRCm39) |
R83L |
probably damaging |
Het |
| Trio |
T |
A |
15: 27,749,867 (GRCm39) |
N1134I |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,544 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
T |
A |
11: 21,273,273 (GRCm39) |
I449L |
possibly damaging |
Het |
| Usp24 |
C |
A |
4: 106,294,041 (GRCm39) |
H2595N |
probably benign |
Het |
| Vat1l |
A |
G |
8: 115,096,629 (GRCm39) |
N370S |
possibly damaging |
Het |
| Wwc1 |
C |
A |
11: 35,758,103 (GRCm39) |
D748Y |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,538,261 (GRCm39) |
H1002Y |
probably damaging |
Het |
|
| Other mutations in Tbc1d15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Tbc1d15
|
APN |
10 |
115,045,546 (GRCm39) |
nonsense |
probably null |
|
|
IGL02458:Tbc1d15
|
APN |
10 |
115,065,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03145:Tbc1d15
|
APN |
10 |
115,038,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0140:Tbc1d15
|
UTSW |
10 |
115,056,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0466:Tbc1d15
|
UTSW |
10 |
115,055,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Tbc1d15
|
UTSW |
10 |
115,075,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Tbc1d15
|
UTSW |
10 |
115,056,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1526:Tbc1d15
|
UTSW |
10 |
115,039,135 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1699:Tbc1d15
|
UTSW |
10 |
115,056,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1727:Tbc1d15
|
UTSW |
10 |
115,046,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Tbc1d15
|
UTSW |
10 |
115,065,078 (GRCm39) |
missense |
probably benign |
|
|
R2111:Tbc1d15
|
UTSW |
10 |
115,076,819 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4751:Tbc1d15
|
UTSW |
10 |
115,038,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Tbc1d15
|
UTSW |
10 |
115,044,874 (GRCm39) |
nonsense |
probably null |
|
|
R5480:Tbc1d15
|
UTSW |
10 |
115,069,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5746:Tbc1d15
|
UTSW |
10 |
115,046,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Tbc1d15
|
UTSW |
10 |
115,056,213 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6012:Tbc1d15
|
UTSW |
10 |
115,055,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Tbc1d15
|
UTSW |
10 |
115,069,148 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6989:Tbc1d15
|
UTSW |
10 |
115,045,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Tbc1d15
|
UTSW |
10 |
115,057,492 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8134:Tbc1d15
|
UTSW |
10 |
115,045,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Tbc1d15
|
UTSW |
10 |
115,065,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Tbc1d15
|
UTSW |
10 |
115,038,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8682:Tbc1d15
|
UTSW |
10 |
115,046,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9336:Tbc1d15
|
UTSW |
10 |
115,044,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation