Incidental Mutation 'IGL01335:Trak1'
| ID |
74592 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
IGL01335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121283382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: T486A
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T486A
| 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 |
unknown
Transcript: ENSMUST00000209446
AA Change: T7A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210798
AA Change: T383A
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211187
AA Change: T476A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211301
AA Change: T383A
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211439
AA Change: T383A
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Coding Region Coverage |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,284,307 (GRCm39) |
M300K |
possibly damaging |
Het |
| Adamts14 |
T |
A |
10: 61,034,460 (GRCm39) |
R1143W |
possibly damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,423,981 (GRCm39) |
Y1083C |
probably damaging |
Het |
| Anxa8 |
T |
C |
14: 33,811,547 (GRCm39) |
M34T |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,121,312 (GRCm39) |
E928* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,302,628 (GRCm39) |
F50L |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,296,298 (GRCm39) |
S863G |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,260,530 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
T |
15: 13,051,395 (GRCm39) |
A413T |
probably benign |
Het |
| Cfap96 |
A |
T |
8: 46,426,642 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,623,492 (GRCm39) |
Q294R |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,046,889 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,690,497 (GRCm39) |
Y736C |
possibly damaging |
Het |
| Eno2 |
C |
T |
6: 124,743,618 (GRCm39) |
G107E |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,826,558 (GRCm39) |
Q368R |
probably benign |
Het |
| Gm3633 |
T |
A |
14: 42,462,595 (GRCm39) |
|
probably benign |
Het |
| Gm4987 |
A |
T |
X: 45,544,755 (GRCm39) |
|
noncoding transcript |
Het |
| Gna13 |
G |
A |
11: 109,256,569 (GRCm39) |
R164Q |
probably damaging |
Het |
| Grhl1 |
A |
T |
12: 24,658,057 (GRCm39) |
E351D |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,737 (GRCm39) |
Q280R |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,174,353 (GRCm39) |
|
probably benign |
Het |
| Mrpl52 |
T |
C |
14: 54,664,656 (GRCm39) |
Y39H |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,582,556 (GRCm39) |
|
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,764,610 (GRCm39) |
L338Q |
probably damaging |
Het |
| Nat8l |
A |
T |
5: 34,155,791 (GRCm39) |
Y149F |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,347,520 (GRCm39) |
S351R |
probably benign |
Het |
| Or10w1 |
A |
T |
19: 13,632,540 (GRCm39) |
H249L |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,640,790 (GRCm39) |
T209S |
probably damaging |
Het |
| Or6c8b |
T |
C |
10: 128,882,380 (GRCm39) |
K184R |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,047,916 (GRCm39) |
L46Q |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,192,660 (GRCm39) |
V624E |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,571,379 (GRCm39) |
R444H |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,173 (GRCm39) |
T226S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,634,760 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
G |
A |
10: 79,698,708 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,307,484 (GRCm39) |
V418A |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,141,055 (GRCm39) |
D421V |
probably damaging |
Het |
| Rimkla |
T |
C |
4: 119,335,156 (GRCm39) |
T76A |
possibly damaging |
Het |
| Rtn1 |
A |
G |
12: 72,355,124 (GRCm39) |
V274A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,017 (GRCm39) |
M289K |
probably benign |
Het |
| Ube2i |
C |
A |
17: 25,488,410 (GRCm39) |
Q11H |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,644 (GRCm39) |
C127S |
probably damaging |
Het |
| Uimc1 |
T |
A |
13: 55,182,724 (GRCm39) |
Q619L |
probably benign |
Het |
| Upk3a |
T |
A |
15: 84,903,786 (GRCm39) |
Y162N |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,097,854 (GRCm39) |
S849P |
probably damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,832,732 (GRCm39) |
T149I |
possibly damaging |
Het |
| Vmn2r15 |
G |
A |
5: 109,434,602 (GRCm39) |
P701S |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,484,087 (GRCm39) |
I704M |
possibly damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,488,239 (GRCm39) |
E756G |
possibly damaging |
Het |
| Xlr3c |
C |
A |
X: 72,303,639 (GRCm39) |
V102F |
probably benign |
Het |
| Zfp384 |
T |
G |
6: 125,002,016 (GRCm39) |
D220E |
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,776 (GRCm39) |
V879E |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation