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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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