Incidental Mutation 'IGL01370:Tbc1d10b'
ID |
76117 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d10b
|
Ensembl Gene |
ENSMUSG00000042492 |
Gene Name |
TBC1 domain family, member 10b |
Synonyms |
1110003P22Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.518)
|
Stock # |
IGL01370
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126796631-126807640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126798253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 629
(H629Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035771]
[ENSMUST00000120705]
[ENSMUST00000205321]
[ENSMUST00000205355]
[ENSMUST00000206081]
[ENSMUST00000205316]
[ENSMUST00000206026]
[ENSMUST00000206587]
[ENSMUST00000166791]
|
AlphaFold |
Q8BHL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035771
|
SMART Domains |
Protein: ENSMUSP00000044790 Gene: ENSMUSG00000042502
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
low complexity region
|
172 |
193 |
N/A |
INTRINSIC |
GYF
|
282 |
339 |
7.35e-25 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120705
AA Change: H629Q
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113307 Gene: ENSMUSG00000042492 AA Change: H629Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
low complexity region
|
129 |
143 |
N/A |
INTRINSIC |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
Blast:TBC
|
274 |
305 |
6e-10 |
BLAST |
TBC
|
343 |
557 |
8.23e-57 |
SMART |
low complexity region
|
632 |
678 |
N/A |
INTRINSIC |
coiled coil region
|
701 |
769 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133666
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137987
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138219
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147520
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205525
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206026
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166791
|
SMART Domains |
Protein: ENSMUSP00000132963 Gene: ENSMUSG00000042502
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
low complexity region
|
172 |
193 |
N/A |
INTRINSIC |
GYF
|
282 |
339 |
7.35e-25 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
Other mutations in Tbc1d10b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0318:Tbc1d10b
|
UTSW |
7 |
126,798,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Tbc1d10b
|
UTSW |
7 |
126,802,950 (GRCm39) |
missense |
probably benign |
|
R1793:Tbc1d10b
|
UTSW |
7 |
126,802,930 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1971:Tbc1d10b
|
UTSW |
7 |
126,807,036 (GRCm39) |
missense |
probably benign |
0.37 |
R2520:Tbc1d10b
|
UTSW |
7 |
126,799,455 (GRCm39) |
critical splice donor site |
probably null |
|
R3887:Tbc1d10b
|
UTSW |
7 |
126,798,967 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5517:Tbc1d10b
|
UTSW |
7 |
126,797,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5780:Tbc1d10b
|
UTSW |
7 |
126,797,925 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5912:Tbc1d10b
|
UTSW |
7 |
126,799,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R6151:Tbc1d10b
|
UTSW |
7 |
126,807,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Tbc1d10b
|
UTSW |
7 |
126,802,584 (GRCm39) |
missense |
probably benign |
0.02 |
R6480:Tbc1d10b
|
UTSW |
7 |
126,798,050 (GRCm39) |
missense |
probably damaging |
0.99 |
R7075:Tbc1d10b
|
UTSW |
7 |
126,802,410 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7731:Tbc1d10b
|
UTSW |
7 |
126,797,993 (GRCm39) |
missense |
probably benign |
|
R8004:Tbc1d10b
|
UTSW |
7 |
126,798,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Tbc1d10b
|
UTSW |
7 |
126,806,938 (GRCm39) |
missense |
probably benign |
|
R9187:Tbc1d10b
|
UTSW |
7 |
126,807,105 (GRCm39) |
missense |
probably benign |
0.00 |
R9632:Tbc1d10b
|
UTSW |
7 |
126,807,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2013-10-07 |