Incidental Mutation 'R1160:Trak1'
ID |
100337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
039233-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R1160 (G1)
|
Quality Score |
106 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121221073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 80
(I80T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209211]
[ENSMUST00000209995]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: I80T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: I80T
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: ENSMUST00000209211
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
AA Change: I80T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2014-01-15 |