Incidental Mutation 'R3683:Tbc1d31'
ID |
269445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d31
|
Ensembl Gene |
ENSMUSG00000022364 |
Gene Name |
TBC1 domain family, member 31 |
Synonyms |
Wdr67, LOC210544, D330013L20Rik |
MMRRC Submission |
040681-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
57775595-57833463 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 57815210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
|
AlphaFold |
Q6NXY1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022992
|
SMART Domains |
Protein: ENSMUSP00000022992 Gene: ENSMUSG00000022364
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 |
noncoding transcript
Transcript: ENSMUST00000110175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162157
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
T |
C |
X: 80,463,841 (GRCm39) |
D622G |
possibly damaging |
Het |
Acad11 |
T |
C |
9: 103,992,543 (GRCm39) |
I495T |
probably damaging |
Het |
Acat1 |
C |
T |
9: 53,498,765 (GRCm39) |
A307T |
probably damaging |
Het |
Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
Bmp2 |
T |
A |
2: 133,396,392 (GRCm39) |
V16D |
probably benign |
Het |
Cables2 |
G |
A |
2: 179,906,263 (GRCm39) |
R121* |
probably null |
Het |
Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
Csrnp2 |
A |
T |
15: 100,379,879 (GRCm39) |
S471T |
probably benign |
Het |
Dnah7a |
C |
A |
1: 53,483,675 (GRCm39) |
M3367I |
probably benign |
Het |
Elp4 |
A |
T |
2: 105,533,106 (GRCm39) |
M413K |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,470,975 (GRCm39) |
D1593G |
probably benign |
Het |
Fbxw24 |
G |
A |
9: 109,437,110 (GRCm39) |
P259L |
possibly damaging |
Het |
Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,168,260 (GRCm39) |
N2S |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,075,328 (GRCm39) |
D1015G |
probably benign |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Nrxn1 |
T |
C |
17: 90,930,880 (GRCm39) |
D779G |
probably damaging |
Het |
Or2d3c |
G |
A |
7: 106,526,301 (GRCm39) |
R122* |
probably null |
Het |
Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
Osmr |
A |
C |
15: 6,866,534 (GRCm39) |
V380G |
possibly damaging |
Het |
Phf21b |
A |
G |
15: 84,682,891 (GRCm39) |
I222T |
probably damaging |
Het |
Ptprq |
G |
T |
10: 107,544,489 (GRCm39) |
T347K |
probably benign |
Het |
Sema6d |
G |
T |
2: 124,496,146 (GRCm39) |
L63F |
possibly damaging |
Het |
Serpinb9b |
C |
T |
13: 33,213,581 (GRCm39) |
A46V |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,540,253 (GRCm39) |
|
probably null |
Het |
Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,052,981 (GRCm39) |
T54I |
possibly damaging |
Het |
Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
Tbc1d20 |
C |
T |
2: 152,153,737 (GRCm39) |
T354I |
probably benign |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
Utrn |
A |
G |
10: 12,542,579 (GRCm39) |
M1802T |
probably benign |
Het |
Vmn1r8 |
A |
C |
6: 57,013,260 (GRCm39) |
T104P |
probably damaging |
Het |
Vmn2r13 |
C |
A |
5: 109,304,721 (GRCm39) |
R570I |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
Zfp1005 |
A |
G |
2: 150,109,976 (GRCm39) |
K222R |
probably benign |
Het |
Zmpste24 |
A |
G |
4: 120,918,288 (GRCm39) |
F445L |
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 |
R0576:Tbc1d31
|
UTSW |
15 |
57,833,120 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
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'- CTTTAGGTGTATGCCTGGCC -3'
(R):5'- TTATAACAACCTGCTTGCCAAG -3'
Sequencing Primer
(F):5'- TGGCCTCTCCTGGAAACACTG -3'
(R):5'- TGCTTGCCAAGAATCTACGC -3'
|
Posted On |
2015-02-19 |