Incidental Mutation 'R7522:Trak1'
ID |
582730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
045594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R7522 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121271777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 166
(E166G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209995]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: E166G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: E166G
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: E116G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210636
AA Change: E166G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210798
AA Change: E63G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: E156G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211301
AA Change: E63G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211439
AA Change: E63G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.6238 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (75/77) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030014E15Rik |
G |
T |
1: 82,902,949 (GRCm39) |
C82F |
unknown |
Het |
Adam21 |
G |
C |
12: 81,605,722 (GRCm39) |
T680R |
possibly damaging |
Het |
Adgrf4 |
A |
C |
17: 42,980,675 (GRCm39) |
Y137D |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,257,600 (GRCm39) |
K477R |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,686 (GRCm39) |
D323E |
probably benign |
Het |
Amph |
A |
G |
13: 19,270,715 (GRCm39) |
D108G |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,682,910 (GRCm39) |
C106S |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,384 (GRCm39) |
T4S |
probably benign |
Het |
Brix1 |
G |
A |
15: 10,476,676 (GRCm39) |
R267C |
probably damaging |
Het |
Calcrl |
G |
A |
2: 84,203,708 (GRCm39) |
S24L |
probably benign |
Het |
Ccdc40 |
T |
G |
11: 119,123,047 (GRCm39) |
I213R |
possibly damaging |
Het |
Cd300lg |
A |
G |
11: 101,945,028 (GRCm39) |
I413V |
probably benign |
Het |
Cdh3 |
G |
A |
8: 107,268,005 (GRCm39) |
D347N |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,446 (GRCm39) |
T55A |
probably benign |
Het |
Cnga4 |
A |
G |
7: 105,055,195 (GRCm39) |
T260A |
probably damaging |
Het |
Cpne8 |
G |
T |
15: 90,486,022 (GRCm39) |
P147Q |
probably benign |
Het |
Cpsf6 |
A |
G |
10: 117,203,734 (GRCm39) |
Y74H |
unknown |
Het |
Cryl1 |
A |
T |
14: 57,513,428 (GRCm39) |
S264R |
probably benign |
Het |
Cyp39a1 |
C |
T |
17: 43,978,370 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
T |
C |
17: 32,705,946 (GRCm39) |
S346P |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,408,057 (GRCm39) |
T28A |
possibly damaging |
Het |
Ddhd1 |
G |
A |
14: 45,895,104 (GRCm39) |
A122V |
possibly damaging |
Het |
Dnmt1 |
C |
A |
9: 20,831,498 (GRCm39) |
C662F |
probably damaging |
Het |
E2f6 |
G |
A |
12: 16,872,125 (GRCm39) |
G190S |
probably benign |
Het |
Esp34 |
A |
T |
17: 38,870,432 (GRCm39) |
I109F |
possibly damaging |
Het |
Espl1 |
A |
T |
15: 102,213,486 (GRCm39) |
D604V |
probably damaging |
Het |
Exo1 |
T |
C |
1: 175,728,870 (GRCm39) |
C645R |
probably benign |
Het |
Fah |
A |
G |
7: 84,246,282 (GRCm39) |
V189A |
probably benign |
Het |
Fam184b |
A |
C |
5: 45,688,093 (GRCm39) |
Y939D |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,908,829 (GRCm39) |
L410* |
probably null |
Het |
Gak |
A |
T |
5: 108,739,065 (GRCm39) |
I665N |
possibly damaging |
Het |
Galnt9 |
A |
G |
5: 110,743,705 (GRCm39) |
|
probably null |
Het |
Gcg |
T |
C |
2: 62,306,103 (GRCm39) |
R165G |
probably benign |
Het |
Hexd |
T |
C |
11: 121,108,923 (GRCm39) |
V214A |
possibly damaging |
Het |
Hoxb3 |
A |
T |
11: 96,235,507 (GRCm39) |
S145C |
probably damaging |
Het |
Il18 |
A |
G |
9: 50,486,640 (GRCm39) |
Y23C |
probably damaging |
Het |
Itgav |
A |
T |
2: 83,632,373 (GRCm39) |
I954F |
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,126,600 (GRCm39) |
R445G |
probably damaging |
Het |
Kyat3 |
T |
A |
3: 142,440,305 (GRCm39) |
L343Q |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,537,117 (GRCm39) |
D139V |
possibly damaging |
Het |
Lrp3 |
C |
T |
7: 34,903,755 (GRCm39) |
G197D |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,480,219 (GRCm39) |
Q661R |
probably benign |
Het |
Marcks |
A |
C |
10: 37,012,577 (GRCm39) |
F153V |
unknown |
Het |
Mocs1 |
T |
C |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
Naa60 |
A |
G |
16: 3,719,768 (GRCm39) |
T232A |
probably benign |
Het |
Oosp1 |
A |
T |
19: 11,666,065 (GRCm39) |
I75N |
probably benign |
Het |
Opn3 |
A |
G |
1: 175,493,189 (GRCm39) |
V125A |
probably benign |
Het |
Or2ag18 |
A |
G |
7: 106,404,994 (GRCm39) |
V225A |
probably damaging |
Het |
Or2f1 |
T |
A |
6: 42,721,568 (GRCm39) |
I199N |
probably damaging |
Het |
Or4c102 |
A |
G |
2: 88,423,005 (GRCm39) |
T286A |
possibly damaging |
Het |
Or7g27 |
T |
A |
9: 19,250,294 (GRCm39) |
C179* |
probably null |
Het |
Palb2 |
T |
C |
7: 121,712,501 (GRCm39) |
T947A |
probably damaging |
Het |
Pde5a |
C |
T |
3: 122,634,648 (GRCm39) |
R730* |
probably null |
Het |
Plcl1 |
T |
C |
1: 55,735,523 (GRCm39) |
I288T |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,977 (GRCm39) |
I966T |
probably benign |
Het |
Prkcz |
T |
C |
4: 155,355,742 (GRCm39) |
E400G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,400,102 (GRCm39) |
D2332G |
possibly damaging |
Het |
Ptgds |
T |
G |
2: 25,357,920 (GRCm39) |
T154P |
probably benign |
Het |
Rel |
T |
C |
11: 23,720,676 (GRCm39) |
|
probably null |
Het |
Rxylt1 |
A |
G |
10: 121,917,344 (GRCm39) |
W390R |
probably damaging |
Het |
Serpinb1c |
T |
A |
13: 33,066,200 (GRCm39) |
K248N |
probably benign |
Het |
Shkbp1 |
A |
C |
7: 27,046,583 (GRCm39) |
W394G |
possibly damaging |
Het |
Slc47a2 |
A |
G |
11: 61,193,076 (GRCm39) |
V559A |
probably benign |
Het |
Sox6 |
A |
T |
7: 115,400,813 (GRCm39) |
F10I |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,837,259 (GRCm39) |
V303A |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,289,803 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,654,762 (GRCm39) |
T1574A |
possibly damaging |
Het |
Tkt |
A |
T |
14: 30,290,180 (GRCm39) |
I270F |
possibly damaging |
Het |
Tsc2 |
A |
T |
17: 24,849,939 (GRCm39) |
I58N |
probably damaging |
Het |
Uhmk1 |
T |
A |
1: 170,042,809 (GRCm39) |
M1L |
probably benign |
Het |
Usp50 |
T |
C |
2: 126,625,146 (GRCm39) |
Y21C |
probably damaging |
Het |
Vmn1r180 |
C |
G |
7: 23,652,685 (GRCm39) |
P283A |
probably damaging |
Het |
Vmn1r83 |
A |
G |
7: 12,055,505 (GRCm39) |
M184T |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,774,665 (GRCm39) |
I230T |
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 |
R6940:Trak1
|
UTSW |
9 |
121,272,784 (GRCm39) |
missense |
possibly damaging |
0.78 |
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 |
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'- TTCCAACCCAGAACTGATGG -3'
(R):5'- ATGGCCGTTCTGGGAAAGAC -3'
Sequencing Primer
(F):5'- ACTGATGGACTGGGCTTTTCTTAAAC -3'
(R):5'- CCGTTCTGGGAAAGACTATCC -3'
|
Posted On |
2019-10-17 |