Incidental Mutation 'IGL01983:Tbc1d10c'
| ID |
183520 |
| 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: 0.103)
|
| Stock # |
IGL01983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4234356-4241194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4240708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 34
(Q34L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025740]
[ENSMUST00000045864]
[ENSMUST00000046094]
|
| AlphaFold |
Q8C9V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025740
|
| SMART Domains |
Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
13 |
265 |
6.6e-101 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045864
AA Change: Q34L
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: Q34L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046094
|
| SMART Domains |
Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
30 |
300 |
1.4e-164 |
SMART |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
G |
A |
1: 66,880,783 (GRCm39) |
Q328* |
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
| Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
| Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
| Naxd |
G |
T |
8: 11,560,218 (GRCm39) |
|
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,130,494 (GRCm39) |
|
probably null |
Het |
| Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,240,974 (GRCm39) |
L69S |
probably damaging |
Het |
| Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,081,317 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
| Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
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 |
|
IGL01550:Tbc1d10c
|
APN |
19 |
4,234,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-05-07 |
Incidental Mutation