Incidental Mutation 'R5462:Tbc1d10c'
| ID |
433087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10c
|
| Ensembl Gene |
ENSMUSG00000040247 |
| Gene Name |
TBC1 domain family, member 10c |
| Synonyms |
1810062O14Rik, Carabin |
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4234356-4241194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4238052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 241
(Q241K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045864]
[ENSMUST00000046094]
|
| AlphaFold |
Q8C9V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045864
AA Change: Q241K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: Q241K
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,886,917 (GRCm39) |
F508L |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,733,976 (GRCm39) |
Y184C |
probably damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| E2f2 |
A |
T |
4: 135,900,224 (GRCm39) |
T45S |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zbtb47 |
G |
T |
9: 121,596,729 (GRCm39) |
R695L |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCAAAAGGGCTGATAGTG -3'
(R):5'- TACCTCCCTGGCTACTATGG -3'
Sequencing Primer
(F):5'- TGGGAACAACAAGCTCTGC -3'
(R):5'- TACTATGGGCCCCACATGGTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation