Incidental Mutation 'R0576:Tbc1d31'
ID |
56241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d31
|
Ensembl Gene |
ENSMUSG00000022364 |
Gene Name |
TBC1 domain family, member 31 |
Synonyms |
Wdr67, LOC210544, D330013L20Rik |
MMRRC Submission |
038766-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0576 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57775595-57833463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57833120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 953
(I953N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
|
AlphaFold |
Q6NXY1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022992
AA Change: I953N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022992 Gene: ENSMUSG00000022364 AA Change: I953N
Domain | Start | End | E-Value | Type |
WD40
|
39 |
70 |
3.3e1 |
SMART |
WD40
|
72 |
112 |
7.64e1 |
SMART |
WD40
|
115 |
153 |
1.42e-4 |
SMART |
WD40
|
156 |
196 |
1.03e1 |
SMART |
WD40
|
199 |
242 |
6.6e1 |
SMART |
Blast:WD40
|
245 |
292 |
8e-23 |
BLAST |
WD40
|
295 |
334 |
2.48e0 |
SMART |
Pfam:RabGAP-TBC
|
427 |
619 |
9.5e-11 |
PFAM |
coiled coil region
|
699 |
844 |
N/A |
INTRINSIC |
low complexity region
|
893 |
906 |
N/A |
INTRINSIC |
low complexity region
|
974 |
985 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161329
AA Change: I190N
|
SMART Domains |
Protein: ENSMUSP00000124466 Gene: ENSMUSG00000022364 AA Change: I190N
Domain | Start | End | E-Value | Type |
coiled coil region
|
97 |
124 |
N/A |
INTRINSIC |
low complexity region
|
131 |
144 |
N/A |
INTRINSIC |
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0768 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
Copg1 |
T |
A |
6: 87,874,945 (GRCm39) |
V380D |
probably damaging |
Het |
Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,187,202 (GRCm39) |
T1073A |
probably damaging |
Het |
Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
Lipo2 |
C |
T |
19: 33,726,824 (GRCm39) |
S71N |
probably benign |
Het |
Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
Nrde2 |
A |
G |
12: 100,098,492 (GRCm39) |
V725A |
possibly damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,475,410 (GRCm39) |
L182Q |
probably benign |
Het |
Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
probably damaging |
Het |
|
Other mutations in Tbc1d31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Tbc1d31
|
APN |
15 |
57,804,164 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01955:Tbc1d31
|
APN |
15 |
57,805,766 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02024:Tbc1d31
|
APN |
15 |
57,783,338 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02501:Tbc1d31
|
APN |
15 |
57,801,344 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03133:Tbc1d31
|
APN |
15 |
57,805,855 (GRCm39) |
splice site |
probably benign |
|
IGL03159:Tbc1d31
|
APN |
15 |
57,783,444 (GRCm39) |
critical splice donor site |
probably null |
|
new_age
|
UTSW |
15 |
57,815,102 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4354001:Tbc1d31
|
UTSW |
15 |
57,831,329 (GRCm39) |
missense |
probably benign |
0.09 |
R0239:Tbc1d31
|
UTSW |
15 |
57,804,149 (GRCm39) |
missense |
probably benign |
0.14 |
R0239:Tbc1d31
|
UTSW |
15 |
57,804,149 (GRCm39) |
missense |
probably benign |
0.14 |
R0375:Tbc1d31
|
UTSW |
15 |
57,818,746 (GRCm39) |
missense |
probably benign |
|
R0478:Tbc1d31
|
UTSW |
15 |
57,795,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R1328:Tbc1d31
|
UTSW |
15 |
57,805,859 (GRCm39) |
splice site |
probably benign |
|
R1454:Tbc1d31
|
UTSW |
15 |
57,815,034 (GRCm39) |
nonsense |
probably null |
|
R1784:Tbc1d31
|
UTSW |
15 |
57,827,316 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1874:Tbc1d31
|
UTSW |
15 |
57,779,506 (GRCm39) |
missense |
probably benign |
0.41 |
R1920:Tbc1d31
|
UTSW |
15 |
57,775,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Tbc1d31
|
UTSW |
15 |
57,796,040 (GRCm39) |
missense |
probably benign |
0.05 |
R2174:Tbc1d31
|
UTSW |
15 |
57,815,137 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2205:Tbc1d31
|
UTSW |
15 |
57,816,916 (GRCm39) |
missense |
probably benign |
0.11 |
R3683:Tbc1d31
|
UTSW |
15 |
57,815,210 (GRCm39) |
critical splice donor site |
probably null |
|
R3825:Tbc1d31
|
UTSW |
15 |
57,779,474 (GRCm39) |
missense |
probably benign |
0.43 |
R4407:Tbc1d31
|
UTSW |
15 |
57,783,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4627:Tbc1d31
|
UTSW |
15 |
57,831,308 (GRCm39) |
missense |
probably benign |
|
R4792:Tbc1d31
|
UTSW |
15 |
57,804,124 (GRCm39) |
missense |
probably benign |
0.03 |
R4804:Tbc1d31
|
UTSW |
15 |
57,814,502 (GRCm39) |
nonsense |
probably null |
|
R4909:Tbc1d31
|
UTSW |
15 |
57,825,661 (GRCm39) |
critical splice donor site |
probably null |
|
R5077:Tbc1d31
|
UTSW |
15 |
57,818,797 (GRCm39) |
missense |
probably benign |
0.00 |
R5230:Tbc1d31
|
UTSW |
15 |
57,824,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R5436:Tbc1d31
|
UTSW |
15 |
57,816,267 (GRCm39) |
missense |
probably benign |
0.04 |
R5652:Tbc1d31
|
UTSW |
15 |
57,815,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R5920:Tbc1d31
|
UTSW |
15 |
57,805,954 (GRCm39) |
missense |
probably benign |
0.10 |
R6102:Tbc1d31
|
UTSW |
15 |
57,799,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R6176:Tbc1d31
|
UTSW |
15 |
57,816,192 (GRCm39) |
missense |
probably damaging |
0.99 |
R6513:Tbc1d31
|
UTSW |
15 |
57,818,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R6778:Tbc1d31
|
UTSW |
15 |
57,801,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Tbc1d31
|
UTSW |
15 |
57,815,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Tbc1d31
|
UTSW |
15 |
57,801,459 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7308:Tbc1d31
|
UTSW |
15 |
57,816,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Tbc1d31
|
UTSW |
15 |
57,779,504 (GRCm39) |
missense |
probably benign |
0.00 |
R7453:Tbc1d31
|
UTSW |
15 |
57,814,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Tbc1d31
|
UTSW |
15 |
57,804,136 (GRCm39) |
missense |
probably benign |
|
R7606:Tbc1d31
|
UTSW |
15 |
57,815,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Tbc1d31
|
UTSW |
15 |
57,799,494 (GRCm39) |
nonsense |
probably null |
|
R7782:Tbc1d31
|
UTSW |
15 |
57,821,764 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8165:Tbc1d31
|
UTSW |
15 |
57,824,345 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9187:Tbc1d31
|
UTSW |
15 |
57,779,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R9558:Tbc1d31
|
UTSW |
15 |
57,795,988 (GRCm39) |
missense |
probably damaging |
0.99 |
R9796:Tbc1d31
|
UTSW |
15 |
57,833,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTCCAGCAGCCTGCTACTTTAG -3'
(R):5'- AGATTCCAGAAGCCCTTTACAAGCC -3'
Sequencing Primer
(F):5'- ACGCTACAATGGTCCTGTATTTG -3'
(R):5'- GAAGCCCTTTACAAGCCAAAGC -3'
|
Posted On |
2013-07-11 |