Incidental Mutation 'R3825:Tbc1d31'
| ID |
275369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d31
|
| Ensembl Gene |
ENSMUSG00000022364 |
| Gene Name |
TBC1 domain family, member 31 |
| Synonyms |
Wdr67, LOC210544, D330013L20Rik |
| MMRRC Submission |
040774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3825 (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 57779474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 62
(H62Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
[ENSMUST00000159775]
|
| AlphaFold |
Q6NXY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022992
AA Change: H62Q
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: H62Q
| 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 |
probably benign
Transcript: ENSMUST00000159775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162157
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
| Abcb5 |
C |
T |
12: 118,865,087 (GRCm39) |
|
probably null |
Het |
| Acot1 |
G |
T |
12: 84,061,194 (GRCm39) |
G167* |
probably null |
Het |
| Agbl1 |
C |
T |
7: 76,069,715 (GRCm39) |
H164Y |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,055 (GRCm39) |
D3333G |
unknown |
Het |
| Ccdc27 |
A |
C |
4: 154,120,742 (GRCm39) |
D351E |
unknown |
Het |
| Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,236,731 (GRCm39) |
I75F |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,946,334 (GRCm39) |
K426E |
probably benign |
Het |
| Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
C |
1: 162,678,916 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
A |
T |
17: 88,791,837 (GRCm39) |
I236F |
probably damaging |
Het |
| Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,723 (GRCm39) |
F122S |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,780 (GRCm39) |
I158M |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,462,716 (GRCm39) |
D5140E |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
| Il7 |
A |
G |
3: 7,642,226 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,571,451 (GRCm39) |
T456A |
probably benign |
Het |
| Lcorl |
A |
G |
5: 45,932,729 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,655,290 (GRCm39) |
R1077* |
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,338,744 (GRCm39) |
D1436V |
probably benign |
Het |
| Map4k2 |
C |
A |
19: 6,394,081 (GRCm39) |
T252N |
probably benign |
Het |
| Mterf2 |
A |
T |
10: 84,956,147 (GRCm39) |
L159Q |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,368,460 (GRCm39) |
T3063K |
possibly damaging |
Het |
| Myo18a |
T |
A |
11: 77,668,292 (GRCm39) |
S51T |
possibly damaging |
Het |
| Ncoa3 |
G |
T |
2: 165,896,718 (GRCm39) |
G503V |
possibly damaging |
Het |
| Ncor1 |
A |
T |
11: 62,264,183 (GRCm39) |
H406Q |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,458,510 (GRCm39) |
K434E |
possibly damaging |
Het |
| Nipal2 |
A |
T |
15: 34,578,852 (GRCm39) |
|
probably null |
Het |
| Nub1 |
G |
C |
5: 24,912,851 (GRCm39) |
S517T |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,696,816 (GRCm39) |
L48P |
possibly damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
| Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
| Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,050,602 (GRCm39) |
N451K |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,259,892 (GRCm39) |
L268P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
| Rhot1 |
G |
A |
11: 80,116,907 (GRCm39) |
V94I |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,351,517 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
T |
A |
9: 109,645,861 (GRCm39) |
V11D |
probably damaging |
Het |
| Ss18l1 |
A |
T |
2: 179,705,103 (GRCm39) |
Q365L |
unknown |
Het |
| Tbc1d9b |
T |
C |
11: 50,061,954 (GRCm39) |
V1171A |
possibly damaging |
Het |
| Tln1 |
G |
A |
4: 43,536,413 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
G |
A |
11: 66,916,077 (GRCm39) |
A25T |
possibly damaging |
Het |
| Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
| Tmod3 |
A |
T |
9: 75,414,809 (GRCm39) |
|
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,398,021 (GRCm39) |
Y52N |
probably damaging |
Het |
| Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
| Ube2frt |
T |
C |
12: 36,141,036 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,880,415 (GRCm39) |
M90I |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,166,277 (GRCm39) |
A849V |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,284,099 (GRCm39) |
M95T |
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 |
|
|
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'- CAGGAAGCCTTCAGTAGAACCC -3'
(R):5'- AATACTCAGAGCTGCCAGCC -3'
Sequencing Primer
(F):5'- CCCAATACATAAAAGCCGGTATGTGG -3'
(R):5'- TGTAAACCAGCCAGTCCTCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation