Incidental Mutation 'IGL01308:Trak1'
| ID |
73560 |
| 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 # |
IGL01308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 121272802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209995]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045903
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
| 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 |
probably null
Transcript: ENSMUST00000210351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
AA Change: V230A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210798
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211439
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
| Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
| Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
| Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
| Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
| Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
| Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
| Mcmbp |
G |
A |
7: 128,316,209 (GRCm39) |
Q214* |
probably null |
Het |
| Mtmr7 |
A |
T |
8: 41,050,388 (GRCm39) |
Y136N |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
| Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
| Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
| Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
| Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,433,499 (GRCm39) |
W419R |
probably damaging |
Het |
| Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
| Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
| Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
| Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
| Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
| Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
| Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
| Tmem260 |
A |
G |
14: 48,749,415 (GRCm39) |
N638S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,867,199 (GRCm39) |
E274G |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
probably benign |
Het |
|
| Other mutations in Trak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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