Incidental Mutation 'R0535:Trak1'
ID |
49419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
038727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R0535 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121272778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 119
(E119V)
|
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
AA Change: E222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: E222V
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 null
Transcript: ENSMUST00000209995
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210351
AA Change: E172V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210636
AA Change: E222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210798
AA Change: E119V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211187
AA Change: E212V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: E119V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211439
AA Change: E119V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
Meta Mutation Damage Score |
0.5060 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (52/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,019 (GRCm39) |
S1069P |
probably benign |
Het |
Acmsd |
A |
T |
1: 127,693,680 (GRCm39) |
I305L |
probably benign |
Het |
Aco2 |
G |
A |
15: 81,797,418 (GRCm39) |
E625K |
possibly damaging |
Het |
Acox1 |
G |
A |
11: 116,065,264 (GRCm39) |
T561I |
possibly damaging |
Het |
Acox2 |
T |
A |
14: 8,256,753 (GRCm38) |
T37S |
probably damaging |
Het |
Apc |
A |
T |
18: 34,394,125 (GRCm39) |
K17M |
probably damaging |
Het |
Cant1 |
T |
C |
11: 118,301,969 (GRCm39) |
D116G |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
Cyp51 |
T |
C |
5: 4,149,202 (GRCm39) |
Q225R |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,521,558 (GRCm39) |
|
probably benign |
Het |
Fam163b |
T |
C |
2: 27,002,778 (GRCm39) |
Y73C |
probably benign |
Het |
Fbxw9 |
T |
C |
8: 85,791,229 (GRCm39) |
C271R |
probably damaging |
Het |
Gbp10 |
T |
C |
5: 105,368,877 (GRCm39) |
N321D |
possibly damaging |
Het |
Gle1 |
T |
C |
2: 29,847,817 (GRCm39) |
F675L |
probably damaging |
Het |
Gm6327 |
T |
C |
16: 12,578,241 (GRCm39) |
|
noncoding transcript |
Het |
Gphn |
T |
A |
12: 78,538,824 (GRCm39) |
F157I |
possibly damaging |
Het |
Gtpbp1 |
A |
T |
15: 79,591,933 (GRCm39) |
T94S |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,895 (GRCm39) |
F286L |
probably benign |
Het |
Ighv3-6 |
A |
T |
12: 114,252,090 (GRCm39) |
|
probably benign |
Het |
Itga2b |
A |
G |
11: 102,348,359 (GRCm39) |
V791A |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,881,835 (GRCm39) |
I796F |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,667,772 (GRCm39) |
K390R |
probably null |
Het |
Krt42 |
C |
T |
11: 100,155,412 (GRCm39) |
C368Y |
probably damaging |
Het |
Lancl1 |
A |
G |
1: 67,049,065 (GRCm39) |
|
probably benign |
Het |
Lipg |
A |
G |
18: 75,087,291 (GRCm39) |
Y177H |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,791,935 (GRCm39) |
E402G |
possibly damaging |
Het |
Ltbp2 |
A |
G |
12: 84,837,826 (GRCm39) |
F1185L |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,831,632 (GRCm39) |
I1727N |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,302,210 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,875,209 (GRCm39) |
E847G |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,828,413 (GRCm39) |
G275E |
probably benign |
Het |
Nell2 |
T |
A |
15: 95,329,488 (GRCm39) |
T278S |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,721,941 (GRCm39) |
S961T |
probably damaging |
Het |
Or5ak22 |
A |
G |
2: 85,230,439 (GRCm39) |
L146P |
possibly damaging |
Het |
Pcare |
A |
G |
17: 72,059,434 (GRCm39) |
V81A |
probably benign |
Het |
Phf2 |
A |
G |
13: 48,967,423 (GRCm39) |
Y675H |
unknown |
Het |
Phldb2 |
A |
G |
16: 45,577,490 (GRCm39) |
V1145A |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,978 (GRCm39) |
S1058P |
probably benign |
Het |
Prss3 |
T |
C |
6: 41,351,903 (GRCm39) |
N120S |
probably benign |
Het |
Reln |
G |
T |
5: 22,256,274 (GRCm39) |
|
probably benign |
Het |
Spag5 |
A |
G |
11: 78,195,554 (GRCm39) |
Y287C |
probably benign |
Het |
Syde2 |
G |
A |
3: 145,694,925 (GRCm39) |
|
probably null |
Het |
Synj1 |
C |
A |
16: 90,744,975 (GRCm39) |
V1190F |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,444,530 (GRCm39) |
I515N |
probably benign |
Het |
Tmem259 |
A |
T |
10: 79,814,429 (GRCm39) |
V309E |
probably damaging |
Het |
Tmem62 |
T |
A |
2: 120,833,077 (GRCm39) |
V494E |
possibly damaging |
Het |
Vmn1r1 |
T |
A |
1: 181,985,516 (GRCm39) |
I50L |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,347,404 (GRCm39) |
F118S |
possibly damaging |
Het |
Xpc |
C |
T |
6: 91,481,560 (GRCm39) |
V254I |
possibly damaging |
Het |
Zfp58 |
G |
A |
13: 67,640,201 (GRCm39) |
Q97* |
probably null |
Het |
Zscan5b |
A |
G |
7: 6,236,911 (GRCm39) |
E220G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTGGTTAAATGACCCTGGCCCTC -3'
(R):5'- TAGTACAGTGCCTTCCAGGTTCCC -3'
Sequencing Primer
(F):5'- CTGGCCCCCTGTTGTGAG -3'
(R):5'- TCTCTGAGACCTGGTACTGAGAC -3'
|
Posted On |
2013-06-12 |