Incidental Mutation 'R6041:Trak1'
ID 483557
Institutional Source Beutler Lab
Gene Symbol Trak1
Ensembl Gene ENSMUSG00000032536
Gene Name trafficking protein, kinesin binding 1
Synonyms hyrt, 2310001H13Rik
MMRRC Submission 044209-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6041 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121126568-121303984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121289478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 597 (I597F)
Ref Sequence ENSEMBL: ENSMUSP00000044482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]
AlphaFold Q6PD31
Predicted Effect probably damaging
Transcript: ENSMUST00000045903
AA Change: I597F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: I597F

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 unknown
Transcript: ENSMUST00000209446
AA Change: I118F
Predicted Effect probably damaging
Transcript: ENSMUST00000210798
AA Change: I494F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000211187
AA Change: I587F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211301
AA Change: I494F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000211439
Meta Mutation Damage Score 0.1011 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,354 (GRCm39) M297K probably damaging Het
Ace A C 11: 105,866,134 (GRCm39) H34P probably benign Het
Agbl2 A T 2: 90,638,371 (GRCm39) N652I probably benign Het
Auh T A 13: 53,073,122 (GRCm39) L86F possibly damaging Het
Bmp10 A G 6: 87,411,302 (GRCm39) K365R probably damaging Het
Cacna1d A T 14: 29,764,314 (GRCm39) S2086T probably damaging Het
Calcoco1 C A 15: 102,626,374 (GRCm39) R105L possibly damaging Het
Casc3 T G 11: 98,719,385 (GRCm39) V509G probably damaging Het
Clmn A G 12: 104,748,131 (GRCm39) V472A probably benign Het
Cyp2b19 A T 7: 26,458,852 (GRCm39) S142C probably damaging Het
Derl3 T C 10: 75,729,335 (GRCm39) L26P probably damaging Het
Dgkh C T 14: 78,825,067 (GRCm39) A863T probably damaging Het
Dhx30 C T 9: 109,913,666 (GRCm39) R1127Q probably benign Het
Dmxl2 A G 9: 54,324,037 (GRCm39) S1116P probably damaging Het
Dnah7b T C 1: 46,328,805 (GRCm39) V3179A probably benign Het
Dnajb11 A T 16: 22,687,471 (GRCm39) N156I probably benign Het
Dpep1 A T 8: 123,927,394 (GRCm39) E316V probably damaging Het
Entrep1 A T 19: 23,962,193 (GRCm39) M270K probably benign Het
F2rl2 T A 13: 95,837,617 (GRCm39) F221I probably benign Het
Flg2 T A 3: 93,127,668 (GRCm39) D173E probably benign Het
Fshr A T 17: 89,293,414 (GRCm39) D421E probably damaging Het
Gfm2 T A 13: 97,309,131 (GRCm39) V612E probably benign Het
Gm17655 T G 5: 110,195,439 (GRCm39) K114N possibly damaging Het
Gm45844 C A 7: 7,281,183 (GRCm39) probably benign Het
Gpr142 A T 11: 114,697,203 (GRCm39) I250F probably damaging Het
Hexa A G 9: 59,470,519 (GRCm39) Q447R probably damaging Het
Leng8 T C 7: 4,148,568 (GRCm39) L780P probably benign Het
Lrrk1 T C 7: 65,911,881 (GRCm39) D1893G probably benign Het
Macf1 T A 4: 123,407,641 (GRCm39) I139F probably damaging Het
Megf10 A T 18: 57,313,621 (GRCm39) T22S probably benign Het
Mup-ps1 C A 4: 60,088,549 (GRCm39) noncoding transcript Het
Myh13 A T 11: 67,255,556 (GRCm39) E1642V probably damaging Het
Myof A G 19: 37,913,068 (GRCm39) Y1462H probably damaging Het
Nipbl T A 15: 8,353,748 (GRCm39) D1765V probably damaging Het
Npy5r A T 8: 67,134,675 (GRCm39) N39K possibly damaging Het
Or5m13b G A 2: 85,753,735 (GRCm39) G41D probably damaging Het
Pax6 A G 2: 105,514,247 (GRCm39) I29V probably damaging Het
Pi4ka A G 16: 17,178,436 (GRCm39) Y307H probably benign Het
Pmf1 A C 3: 88,303,358 (GRCm39) Y68D probably damaging Het
Psen2 C A 1: 180,073,292 (GRCm39) E10* probably null Het
Ptprs T A 17: 56,726,080 (GRCm39) M991L probably benign Het
R3hdm4 A G 10: 79,749,495 (GRCm39) V20A possibly damaging Het
Rad17 T C 13: 100,754,274 (GRCm39) N649D probably benign Het
Rad9b A T 5: 122,489,415 (GRCm39) C38S probably damaging Het
Rapgef2 T C 3: 78,976,469 (GRCm39) M1296V probably benign Het
Rbp3 T C 14: 33,678,439 (GRCm39) S796P probably damaging Het
Rpl10-ps3 A G 9: 50,256,082 (GRCm39) S54P probably benign Het
Sclt1 T A 3: 41,581,612 (GRCm39) I688F probably damaging Het
Scn10a A G 9: 119,438,535 (GRCm39) I1778T probably damaging Het
Scrib C T 15: 75,939,021 (GRCm39) R159Q possibly damaging Het
Senp1 C T 15: 97,956,097 (GRCm39) E441K probably damaging Het
Sipa1l1 T A 12: 82,389,024 (GRCm39) F417I probably damaging Het
Slco1a7 A C 6: 141,684,764 (GRCm39) D230E probably benign Het
Smcr8 A G 11: 60,670,394 (GRCm39) D514G probably damaging Het
Tbc1d23 T G 16: 56,993,513 (GRCm39) D551A probably benign Het
Tet1 G T 10: 62,649,152 (GRCm39) T149N probably damaging Het
Them4 A T 3: 94,224,806 (GRCm39) D61V possibly damaging Het
Trank1 A G 9: 111,206,864 (GRCm39) I1666V possibly damaging Het
Vipr2 A C 12: 116,106,604 (GRCm39) N378T probably damaging Het
Zfp804b T C 5: 6,821,231 (GRCm39) R575G probably benign Het
Zfp941 A T 7: 140,392,158 (GRCm39) C400* probably null Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign 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
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
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'- CAATCCTTTGCAAGCTCGGG -3'
(R):5'- TGAGACAGTCACACGTGCTC -3'

Sequencing Primer
(F):5'- GGTGACCTCAGTCCCTCC -3'
(R):5'- AGTCACACGTGCTCGAGAC -3'
Posted On 2017-07-14