Incidental Mutation 'R0375:Tbc1d31'
| ID |
30710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d31
|
| Ensembl Gene |
ENSMUSG00000022364 |
| Gene Name |
TBC1 domain family, member 31 |
| Synonyms |
Wdr67, LOC210544, D330013L20Rik |
| MMRRC Submission |
038581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57775595-57833463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57818746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 783
(L783H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
|
| AlphaFold |
Q6NXY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022992
AA Change: L783H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: L783H
| 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
|
| Meta Mutation Damage Score |
0.0705 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
T |
A |
11: 25,719,092 (GRCm39) |
Y17F |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,825,476 (GRCm39) |
D313G |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,006,273 (GRCm39) |
D1277E |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,661,530 (GRCm39) |
A981S |
probably damaging |
Het |
| Aff3 |
T |
G |
1: 38,244,021 (GRCm39) |
K917Q |
possibly damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,994 (GRCm39) |
H78L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,100,401 (GRCm39) |
T4707I |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,301,880 (GRCm39) |
A2027S |
possibly damaging |
Het |
| Camk1g |
G |
A |
1: 193,038,709 (GRCm39) |
|
probably benign |
Het |
| Carf |
T |
C |
1: 60,183,161 (GRCm39) |
V386A |
probably damaging |
Het |
| Cd46 |
A |
G |
1: 194,768,472 (GRCm39) |
S82P |
probably benign |
Het |
| Clic5 |
A |
G |
17: 44,581,510 (GRCm39) |
E180G |
possibly damaging |
Het |
| Col27a1 |
A |
G |
4: 63,143,898 (GRCm39) |
T529A |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,809,305 (GRCm39) |
R2627C |
unknown |
Het |
| Cuzd1 |
G |
A |
7: 130,913,637 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,944,331 (GRCm39) |
D50G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,281,813 (GRCm39) |
V735A |
possibly damaging |
Het |
| Dhx57 |
T |
G |
17: 80,565,550 (GRCm39) |
E834A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,603,936 (GRCm39) |
D801G |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,464 (GRCm39) |
E578G |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,265 (GRCm39) |
H116L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,907 (GRCm39) |
I360V |
possibly damaging |
Het |
| Fignl2 |
G |
A |
15: 100,951,974 (GRCm39) |
P103S |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,196 (GRCm39) |
T1006A |
probably benign |
Het |
| Ggnbp2 |
G |
T |
11: 84,727,200 (GRCm39) |
C545* |
probably null |
Het |
| Gm3336 |
A |
G |
8: 71,171,294 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,290 (GRCm39) |
N518S |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,218,440 (GRCm39) |
D312E |
possibly damaging |
Het |
| Hoxd10 |
C |
A |
2: 74,523,064 (GRCm39) |
S247R |
probably benign |
Het |
| Ifnb1 |
A |
T |
4: 88,440,981 (GRCm39) |
F11I |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,969,184 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,820,930 (GRCm39) |
V879E |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,656 (GRCm39) |
F1291L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,382,586 (GRCm39) |
E529G |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,668 (GRCm39) |
E157G |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,775 (GRCm39) |
T47A |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,985 (GRCm39) |
T225S |
possibly damaging |
Het |
| Or4a68 |
G |
T |
2: 89,269,740 (GRCm39) |
N294K |
probably benign |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,286 (GRCm39) |
V768A |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,495,564 (GRCm39) |
T14A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,105 (GRCm39) |
L1275P |
probably damaging |
Het |
| Rnf214 |
C |
A |
9: 45,811,121 (GRCm39) |
V181F |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,286,040 (GRCm39) |
N58S |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,069 (GRCm39) |
T79I |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,295,500 (GRCm39) |
G1023S |
unknown |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,562,793 (GRCm39) |
V803A |
unknown |
Het |
| Slc25a46 |
T |
C |
18: 31,716,319 (GRCm39) |
I394M |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,657,935 (GRCm39) |
I101K |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,934,906 (GRCm39) |
T704K |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,193,058 (GRCm39) |
M266K |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,646,842 (GRCm39) |
V61A |
possibly damaging |
Het |
| Tbck |
C |
A |
3: 132,456,993 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,394 (GRCm39) |
V2050A |
probably damaging |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,987 (GRCm39) |
N158K |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,121 (GRCm39) |
Y81N |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,726 (GRCm39) |
T173A |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,061,754 (GRCm39) |
S552A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,967 (GRCm39) |
Y58* |
probably null |
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 |
|
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 |
|
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'- AACAGCACAGGCAACTCAGTGG -3'
(R):5'- AGACACCTCAGCTTTAGAAATGCGG -3'
Sequencing Primer
(F):5'- GCAACTCAGTGGAAAAAAAAGAAATC -3'
(R):5'- CCGGATGTTCTATGCTGGAAAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation