Incidental Mutation 'R6940:Trak1'
| ID |
540510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
045054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R6940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121272784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209995]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: V224A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: V224A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
47 |
352 |
8.1e-139 |
PFAM |
|
Pfam:Milton
|
411 |
580 |
5e-72 |
PFAM |
|
low complexity region
|
882 |
897 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209995
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210351
AA Change: V174A
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
AA Change: V224A
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210798
AA Change: V121A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211187
AA Change: V214A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211301
AA Change: V121A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211439
AA Change: V121A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
PHENOTYPE: Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
| Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
| Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
| Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
| Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
| Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
| Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
| Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
| Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
| Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
| Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
probably benign |
Het |
|
| Other mutations in Trak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Trak1
|
APN |
9 |
121,272,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01335:Trak1
|
APN |
9 |
121,283,382 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01777:Trak1
|
APN |
9 |
121,260,626 (GRCm39) |
splice site |
probably null |
|
|
IGL01804:Trak1
|
APN |
9 |
121,271,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01986:Trak1
|
APN |
9 |
121,302,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02248:Trak1
|
APN |
9 |
121,275,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Trak1
|
APN |
9 |
121,280,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Trak1
|
APN |
9 |
121,277,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Trak1
|
APN |
9 |
121,196,188 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT4468001:Trak1
|
UTSW |
9 |
121,282,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0067:Trak1
|
UTSW |
9 |
121,301,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Trak1
|
UTSW |
9 |
121,283,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0535:Trak1
|
UTSW |
9 |
121,272,778 (GRCm39) |
missense |
probably null |
1.00 |
|
R0629:Trak1
|
UTSW |
9 |
121,196,233 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0671:Trak1
|
UTSW |
9 |
121,278,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0883:Trak1
|
UTSW |
9 |
121,282,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1160:Trak1
|
UTSW |
9 |
121,221,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1162:Trak1
|
UTSW |
9 |
121,282,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1168:Trak1
|
UTSW |
9 |
121,269,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Trak1
|
UTSW |
9 |
121,283,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2119:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2120:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2137:Trak1
|
UTSW |
9 |
121,302,028 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3162:Trak1
|
UTSW |
9 |
121,280,800 (GRCm39) |
splice site |
probably benign |
|
|
R3888:Trak1
|
UTSW |
9 |
121,271,863 (GRCm39) |
splice site |
probably null |
|
|
R3889:Trak1
|
UTSW |
9 |
121,274,939 (GRCm39) |
missense |
probably null |
0.40 |
|
R4031:Trak1
|
UTSW |
9 |
121,280,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Trak1
|
UTSW |
9 |
121,277,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Trak1
|
UTSW |
9 |
121,260,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4631:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4632:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4786:Trak1
|
UTSW |
9 |
121,301,560 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5137:Trak1
|
UTSW |
9 |
121,196,121 (GRCm39) |
intron |
probably benign |
|
|
R5159:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5467:Trak1
|
UTSW |
9 |
121,275,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Trak1
|
UTSW |
9 |
121,272,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5664:Trak1
|
UTSW |
9 |
121,301,373 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5769:Trak1
|
UTSW |
9 |
121,277,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Trak1
|
UTSW |
9 |
121,196,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6257:Trak1
|
UTSW |
9 |
121,275,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Trak1
|
UTSW |
9 |
121,280,792 (GRCm39) |
missense |
probably null |
0.03 |
|
R6399:Trak1
|
UTSW |
9 |
121,282,562 (GRCm39) |
splice site |
probably null |
|
|
R6513:Trak1
|
UTSW |
9 |
121,272,822 (GRCm39) |
missense |
probably benign |
|
|
R6579:Trak1
|
UTSW |
9 |
121,272,704 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7120:Trak1
|
UTSW |
9 |
121,289,564 (GRCm39) |
missense |
probably benign |
|
|
R7299:Trak1
|
UTSW |
9 |
121,280,929 (GRCm39) |
splice site |
probably null |
|
|
R7304:Trak1
|
UTSW |
9 |
121,245,278 (GRCm39) |
missense |
probably benign |
|
|
R7396:Trak1
|
UTSW |
9 |
121,277,973 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7522:Trak1
|
UTSW |
9 |
121,271,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7657:Trak1
|
UTSW |
9 |
121,301,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Trak1
|
UTSW |
9 |
121,196,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7793:Trak1
|
UTSW |
9 |
121,245,264 (GRCm39) |
nonsense |
probably null |
|
|
R7999:Trak1
|
UTSW |
9 |
121,289,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8215:Trak1
|
UTSW |
9 |
121,298,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8261:Trak1
|
UTSW |
9 |
121,280,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Trak1
|
UTSW |
9 |
121,289,565 (GRCm39) |
nonsense |
probably null |
|
|
R8914:Trak1
|
UTSW |
9 |
121,272,847 (GRCm39) |
missense |
unknown |
|
|
R9072:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Trak1
|
UTSW |
9 |
121,280,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Trak1
|
UTSW |
9 |
121,301,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Trak1
|
UTSW |
9 |
121,220,924 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAAATGACCCTGGCCCTC -3'
(R):5'- TAACAATCACCCTAGCCTTCGG -3'
Sequencing Primer
(F):5'- TCTGGCCCCCTGTTGTGAG -3'
(R):5'- TGCCTGTACCCGACTCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation