Incidental Mutation 'IGL00337:Tbc1d15'
| ID |
14378 |
| 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: 0.410)
|
| Stock # |
IGL00337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115033777-115087372 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 115045546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 473
(E473*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020339]
|
| AlphaFold |
Q9CXF4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020339
AA Change: E473*
|
| SMART Domains |
Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: E473*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217886
|
| 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 |
|---|
| Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
| Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
| Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
| Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
| Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
| Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
| P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
| Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
| Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
| Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
| Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
| Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
| Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
| Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
| Other mutations in Tbc1d15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Tbc1d15
|
APN |
10 |
115,038,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-12-06 |
Incidental Mutation