Incidental Mutation 'R6513:Tbc1d31'
| ID |
520025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d31
|
| Ensembl Gene |
ENSMUSG00000022364 |
| Gene Name |
TBC1 domain family, member 31 |
| Synonyms |
Wdr67, LOC210544, D330013L20Rik |
| MMRRC Submission |
044640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57775595-57833463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57818778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 794
(R794W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
|
| AlphaFold |
Q6NXY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022992
AA Change: R794W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: R794W
| 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 |
probably benign
Transcript: ENSMUST00000161329
|
| SMART Domains |
Protein: ENSMUSP00000124466
Gene: ENSMUSG00000022364
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162157
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,654 (GRCm39) |
S161G |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,919 (GRCm39) |
V2290A |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,252,212 (GRCm39) |
N29S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,891,379 (GRCm39) |
R592G |
possibly damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,640 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cabp1 |
T |
A |
5: 115,307,193 (GRCm39) |
M165L |
possibly damaging |
Het |
| Calhm4 |
T |
A |
10: 33,917,630 (GRCm39) |
R274* |
probably null |
Het |
| Cep72 |
A |
T |
13: 74,206,582 (GRCm39) |
L73H |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,525,743 (GRCm39) |
S731G |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,179,295 (GRCm39) |
I258V |
probably benign |
Het |
| Dsg1c |
T |
G |
18: 20,407,687 (GRCm39) |
N344K |
probably benign |
Het |
| Enah |
A |
G |
1: 181,841,920 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,225,591 (GRCm39) |
S554C |
probably damaging |
Het |
| Fkrp |
C |
A |
7: 16,545,037 (GRCm39) |
R275L |
possibly damaging |
Het |
| Gbp4 |
C |
T |
5: 105,270,986 (GRCm39) |
G215D |
possibly damaging |
Het |
| Gli2 |
G |
A |
1: 118,783,284 (GRCm39) |
L239F |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,573 (GRCm39) |
D125G |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,494,259 (GRCm39) |
|
probably null |
Het |
| Invs |
G |
A |
4: 48,397,534 (GRCm39) |
V370I |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,302 (GRCm39) |
V1040A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,434 (GRCm39) |
V1059D |
possibly damaging |
Het |
| Kif26a |
T |
A |
12: 112,141,926 (GRCm39) |
S727T |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,813 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
G |
7: 43,705,169 (GRCm39) |
H112R |
probably benign |
Het |
| Krt72 |
T |
G |
15: 101,685,187 (GRCm39) |
|
probably null |
Het |
| Lactb |
C |
T |
9: 66,878,172 (GRCm39) |
R219H |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,373,045 (GRCm39) |
I612N |
probably damaging |
Het |
| Meaf6 |
A |
C |
4: 124,983,697 (GRCm39) |
N51T |
probably damaging |
Het |
| Mtap |
A |
G |
4: 89,066,498 (GRCm39) |
T36A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,412,143 (GRCm39) |
G713S |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,255 (GRCm39) |
T596I |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,224 (GRCm39) |
C172* |
probably null |
Het |
| Or4f14 |
C |
G |
2: 111,743,228 (GRCm39) |
G16R |
possibly damaging |
Het |
| Pam |
A |
G |
1: 97,765,752 (GRCm39) |
V759A |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,051,701 (GRCm39) |
E1217V |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,772,944 (GRCm39) |
I1220F |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,568,240 (GRCm39) |
M1222L |
possibly damaging |
Het |
| Phospho1 |
C |
T |
11: 95,721,513 (GRCm39) |
A61V |
possibly damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,906,550 (GRCm39) |
V638I |
possibly damaging |
Het |
| Pramel34 |
C |
A |
5: 93,785,391 (GRCm39) |
|
probably null |
Het |
| Ptf1a |
T |
A |
2: 19,451,848 (GRCm39) |
D282E |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,975,879 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,522,156 (GRCm39) |
R471G |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,303,419 (GRCm39) |
S251P |
possibly damaging |
Het |
| Shcbp1 |
T |
C |
8: 4,794,507 (GRCm39) |
M429V |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,062,637 (GRCm39) |
L1248P |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,835 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,233,995 (GRCm39) |
L355P |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,386 (GRCm39) |
Y766C |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,793 (GRCm39) |
|
probably null |
Het |
| Tle4 |
T |
C |
19: 14,429,056 (GRCm39) |
D722G |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,243,862 (GRCm39) |
V98A |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,272,822 (GRCm39) |
R237C |
probably benign |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,715 (GRCm39) |
I833T |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,915,093 (GRCm39) |
S518C |
probably damaging |
Het |
| Vmn2r49 |
A |
G |
7: 9,710,524 (GRCm39) |
I736T |
probably damaging |
Het |
| Wdr38 |
T |
A |
2: 38,889,970 (GRCm39) |
|
probably null |
Het |
| Wee2 |
A |
G |
6: 40,429,553 (GRCm39) |
E180G |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,432,604 (GRCm39) |
S197P |
possibly damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,976,629 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,973,835 (GRCm39) |
L11Q |
probably damaging |
Het |
| Zfp623 |
G |
A |
15: 75,819,317 (GRCm39) |
R91H |
probably benign |
Het |
| Zkscan7 |
G |
A |
9: 122,725,170 (GRCm39) |
R713Q |
probably benign |
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 |
|
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 |
|
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'- TGTATCCAAACAGCACAGGC -3'
(R):5'- AGAAGACTATTTCCCTGACACAG -3'
Sequencing Primer
(F):5'- GTTTTTCAGGCTAGCTGC -3'
(R):5'- CCCTGACACAGTTTTATTTCTAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation