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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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