Incidental Mutation 'R2205:Tbc1d31'
| ID |
239002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d31
|
| Ensembl Gene |
ENSMUSG00000022364 |
| Gene Name |
TBC1 domain family, member 31 |
| Synonyms |
Wdr67, LOC210544, D330013L20Rik |
| MMRRC Submission |
040207-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2205 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57775595-57833463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57816916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 717
(D717G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022992]
|
| AlphaFold |
Q6NXY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022992
AA Change: D717G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: D717G
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
C |
G |
11: 48,910,149 (GRCm39) |
L761F |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,846,503 (GRCm39) |
S652P |
probably damaging |
Het |
| Acsl6 |
G |
A |
11: 54,214,833 (GRCm39) |
G75S |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,062,729 (GRCm39) |
K394N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,220 (GRCm39) |
E1487G |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,664,609 (GRCm39) |
D406G |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,717,421 (GRCm39) |
T201A |
possibly damaging |
Het |
| Ankrd2 |
C |
A |
19: 42,032,558 (GRCm39) |
A273E |
probably damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,500,843 (GRCm39) |
H876L |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,231,950 (GRCm39) |
|
probably null |
Het |
| Bag6 |
G |
A |
17: 35,363,583 (GRCm39) |
G751R |
probably damaging |
Het |
| Brat1 |
G |
A |
5: 140,690,888 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,884,671 (GRCm39) |
Q922* |
probably null |
Het |
| Cfap221 |
T |
G |
1: 119,863,834 (GRCm39) |
Y570S |
possibly damaging |
Het |
| Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,071,562 (GRCm39) |
D34G |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,693,070 (GRCm39) |
Y739H |
probably damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,703,144 (GRCm39) |
V188E |
probably damaging |
Het |
| Dpp9 |
A |
C |
17: 56,506,287 (GRCm39) |
I411S |
possibly damaging |
Het |
| Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
| Fitm2 |
G |
A |
2: 163,314,516 (GRCm39) |
|
probably benign |
Het |
| Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
| Gpatch1 |
C |
A |
7: 34,991,197 (GRCm39) |
D616Y |
probably damaging |
Het |
| Gpc3 |
T |
A |
X: 51,486,083 (GRCm39) |
I344F |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
| Hoxb3 |
T |
A |
11: 96,236,494 (GRCm39) |
S191T |
probably benign |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,741 (GRCm39) |
E239K |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
| Irak1 |
G |
A |
X: 73,060,744 (GRCm39) |
T193I |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,041,173 (GRCm39) |
T1134I |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,035,424 (GRCm39) |
I510V |
probably benign |
Het |
| Nipsnap1 |
C |
A |
11: 4,839,974 (GRCm39) |
H232N |
possibly damaging |
Het |
| Nme4 |
A |
T |
17: 26,311,114 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
| P2rx7 |
T |
A |
5: 122,819,164 (GRCm39) |
Y529N |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,103,167 (GRCm39) |
M267K |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,594,997 (GRCm39) |
D320G |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,525,629 (GRCm39) |
A225E |
probably damaging |
Het |
| Samm50 |
G |
A |
15: 84,086,515 (GRCm39) |
A245T |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,386,028 (GRCm39) |
M597K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Ssh3 |
A |
G |
19: 4,319,101 (GRCm39) |
L3P |
probably damaging |
Het |
| Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
| Timd5 |
A |
G |
11: 46,419,394 (GRCm39) |
N70S |
probably benign |
Het |
| Tma7 |
C |
A |
9: 108,911,294 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
A |
T |
19: 20,918,269 (GRCm39) |
L2M |
probably benign |
Het |
| Tmem39b |
A |
C |
4: 129,587,716 (GRCm39) |
S32A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,481,719 (GRCm39) |
Y211C |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,065,467 (GRCm39) |
G436S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,681,907 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
G |
A |
5: 114,527,135 (GRCm39) |
V118M |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,335,147 (GRCm39) |
T1210A |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,604 (GRCm39) |
D58G |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
| Wdr62 |
T |
A |
7: 29,957,574 (GRCm39) |
|
probably null |
Het |
| Ywhah |
A |
G |
5: 33,184,484 (GRCm39) |
N229S |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
| Zfyve27 |
C |
A |
19: 42,171,885 (GRCm39) |
A139D |
probably damaging |
Het |
| Zmat1 |
A |
G |
X: 133,873,861 (GRCm39) |
L476P |
possibly damaging |
Het |
| Zswim4 |
G |
T |
8: 84,952,498 (GRCm39) |
T488N |
possibly 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 |
|
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'- GGCTTCAAAGATGACTAATTTCTCC -3'
(R):5'- ATTGGGACTACACGTGTGCC -3'
Sequencing Primer
(F):5'- TCTCCTAAGTCTGGAAATAAAAGCAC -3'
(R):5'- GACTACACGTGTGCCTCTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation