Incidental Mutation 'IGL01550:Tbc1d10c'
| ID |
90578 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d10c
|
| Ensembl Gene |
ENSMUSG00000040247 |
| Gene Name |
TBC1 domain family, member 10c |
| Synonyms |
1810062O14Rik, Carabin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4234356-4241194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4234823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 413
(T413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045864]
|
| AlphaFold |
Q8C9V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045864
AA Change: T413A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: T413A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
28 |
N/A |
INTRINSIC |
|
TBC
|
87 |
301 |
7.1e-61 |
SMART |
|
low complexity region
|
393 |
408 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous T cell activation and increased B cell response to ovalbumin, NP-LPS and Borrelia burgdorferi infection, and increased autoimmune response to CpG-DNA. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
G |
11: 3,887,974 (GRCm39) |
R137S |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,051 (GRCm39) |
Q868K |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,760,355 (GRCm39) |
M386L |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,715,150 (GRCm39) |
|
probably null |
Het |
| Gpr142 |
T |
A |
11: 114,695,152 (GRCm39) |
L39Q |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,474,148 (GRCm39) |
W4765R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,314,264 (GRCm39) |
E3603V |
possibly damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,234 (GRCm39) |
D26N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,274 (GRCm39) |
T4760A |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,163,576 (GRCm39) |
|
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,120 (GRCm39) |
I48K |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,091,718 (GRCm39) |
D29V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,823,690 (GRCm39) |
F405S |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,712,669 (GRCm39) |
D2136G |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,986 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52a20 |
T |
G |
7: 103,366,204 (GRCm39) |
H134Q |
probably damaging |
Het |
| Or5g27 |
T |
A |
2: 85,409,875 (GRCm39) |
C97* |
probably null |
Het |
| Or7e175 |
A |
T |
9: 20,048,750 (GRCm39) |
T113S |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rpp40 |
T |
C |
13: 36,090,183 (GRCm39) |
|
probably null |
Het |
| Samd7 |
T |
A |
3: 30,819,399 (GRCm39) |
S383T |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,535 (GRCm39) |
L905P |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,701,828 (GRCm39) |
K643R |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,617 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
T |
6: 125,656,252 (GRCm39) |
I2606F |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,703,774 (GRCm39) |
T258A |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,108,363 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,594,021 (GRCm39) |
L137S |
probably damaging |
Het |
|
| Other mutations in Tbc1d10c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Tbc1d10c
|
APN |
19 |
4,239,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01983:Tbc1d10c
|
APN |
19 |
4,240,708 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02544:Tbc1d10c
|
APN |
19 |
4,237,959 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4541:Tbc1d10c
|
UTSW |
19 |
4,239,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Tbc1d10c
|
UTSW |
19 |
4,235,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5462:Tbc1d10c
|
UTSW |
19 |
4,238,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5609:Tbc1d10c
|
UTSW |
19 |
4,239,881 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5694:Tbc1d10c
|
UTSW |
19 |
4,234,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Tbc1d10c
|
UTSW |
19 |
4,235,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6462:Tbc1d10c
|
UTSW |
19 |
4,234,893 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7326:Tbc1d10c
|
UTSW |
19 |
4,234,897 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8033:Tbc1d10c
|
UTSW |
19 |
4,238,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8351:Tbc1d10c
|
UTSW |
19 |
4,234,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation