Incidental Mutation 'IGL01335:Trak1'
ID74592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trak1
Ensembl Gene ENSMUSG00000032536
Gene Nametrafficking protein, kinesin binding 1
Synonymshyrt, 2310001H13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL01335
Quality Score
Status
Chromosome9
Chromosomal Location121297502-121474918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121454316 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 476 (T476A)
Ref Sequence ENSEMBL: ENSMUSP00000147624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]
Predicted Effect probably benign
Transcript: ENSMUST00000045903
AA Change: T486A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T486A

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: T7A
Predicted Effect possibly damaging
Transcript: ENSMUST00000210798
AA Change: T383A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211187
AA Change: T476A

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211301
AA Change: T383A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211439
AA Change: T383A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211699
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,973,605 probably benign Het
6820408C15Rik T A 2: 152,442,387 M300K possibly damaging Het
Adamts14 T A 10: 61,198,681 R1143W possibly damaging Het
Ankrd28 T C 14: 31,702,024 Y1083C probably damaging Het
Anxa8 T C 14: 34,089,590 M34T probably damaging Het
Aox1 G T 1: 58,082,153 E928* probably null Het
Atp8b5 T A 4: 43,302,628 F50L possibly damaging Het
Brpf1 A G 6: 113,319,337 S863G probably damaging Het
Cdc42bpb A G 12: 111,294,096 probably benign Het
Cdh6 C T 15: 13,051,309 A413T probably benign Het
Cfap97 A G 8: 46,170,455 Q294R probably damaging Het
Cit C T 5: 115,908,830 probably benign Het
Dmbt1 A G 7: 131,088,767 Y736C possibly damaging Het
Eno2 C T 6: 124,766,655 G107E probably damaging Het
Gja8 T C 3: 96,919,242 Q368R probably benign Het
Gm3633 T A 14: 42,640,638 probably benign Het
Gm4987 A T X: 46,455,878 noncoding transcript Het
Gna13 G A 11: 109,365,743 R164Q probably damaging Het
Grhl1 A T 12: 24,608,058 E351D probably damaging Het
Idua A G 5: 108,680,871 Q280R probably benign Het
Igsf5 T A 16: 96,373,153 probably benign Het
Mrpl52 T C 14: 54,427,199 Y39H probably damaging Het
Naa16 A T 14: 79,345,116 probably benign Het
Naa35 T A 13: 59,616,796 L338Q probably damaging Het
Nat8l A T 5: 33,998,447 Y149F probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Ncoa1 A T 12: 4,297,520 S351R probably benign Het
Olfr1046 A T 2: 86,217,572 L46Q probably damaging Het
Olfr1145 A T 2: 87,810,446 T209S probably damaging Het
Olfr1490 A T 19: 13,655,176 H249L probably damaging Het
Olfr765 T C 10: 129,046,511 K184R probably benign Het
Pacs1 A T 19: 5,142,632 V624E probably damaging Het
Pde6b G A 5: 108,423,513 R444H probably benign Het
Pigk A T 3: 152,742,536 T226S probably benign Het
Prkdc T C 16: 15,816,896 probably null Het
Ptbp1 G A 10: 79,862,874 probably null Het
Pyroxd1 T C 6: 142,361,758 V418A probably damaging Het
Rhot1 A T 11: 80,250,229 D421V probably damaging Het
Rimkla T C 4: 119,477,959 T76A possibly damaging Het
Rtn1 A G 12: 72,308,350 V274A probably benign Het
Tatdn2 T A 6: 113,704,056 M289K probably benign Het
Ube2i C A 17: 25,269,436 Q11H probably damaging Het
Ugt2a3 A T 5: 87,336,785 C127S probably damaging Het
Uimc1 T A 13: 55,034,911 Q619L probably benign Het
Upk3a T A 15: 85,019,585 Y162N probably damaging Het
Usp33 T C 3: 152,392,217 S849P probably damaging Het
Vmn2r120 G A 17: 57,525,732 T149I possibly damaging Het
Vmn2r15 G A 5: 109,286,736 P701S possibly damaging Het
Vmn2r28 T C 7: 5,481,088 I704M possibly damaging Het
Wdhd1 T C 14: 47,250,782 E756G possibly damaging Het
Xlr3c C A X: 73,260,033 V102F probably benign Het
Zfp384 T G 6: 125,025,053 D220E probably benign Het
Zfp521 A T 18: 13,844,719 V879E probably benign Het
Other mutations in Trak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Trak1 APN 9 121443736 critical splice donor site probably null
IGL01777:Trak1 APN 9 121431560 splice site probably null
IGL01804:Trak1 APN 9 121442685 splice site probably benign
IGL01986:Trak1 APN 9 121472967 missense probably benign 0.00
IGL02248:Trak1 APN 9 121446794 missense probably damaging 1.00
IGL02276:Trak1 APN 9 121451668 missense probably damaging 1.00
IGL02556:Trak1 APN 9 121448901 missense probably damaging 1.00
IGL03368:Trak1 APN 9 121367122 missense possibly damaging 0.66
PIT4468001:Trak1 UTSW 9 121453332 missense probably benign 0.18
R0067:Trak1 UTSW 9 121472907 missense probably damaging 1.00
R0276:Trak1 UTSW 9 121454338 missense probably damaging 0.97
R0535:Trak1 UTSW 9 121443712 missense probably null 1.00
R0629:Trak1 UTSW 9 121367167 missense probably benign 0.37
R0671:Trak1 UTSW 9 121448955 critical splice donor site probably null
R0883:Trak1 UTSW 9 121453285 missense possibly damaging 0.90
R1160:Trak1 UTSW 9 121392007 missense probably benign 0.01
R1162:Trak1 UTSW 9 121453341 missense possibly damaging 0.93
R1168:Trak1 UTSW 9 121440679 missense probably damaging 1.00
R1398:Trak1 UTSW 9 121454359 missense probably damaging 1.00
R2118:Trak1 UTSW 9 121472997 makesense probably null
R2119:Trak1 UTSW 9 121472997 makesense probably null
R2120:Trak1 UTSW 9 121472997 makesense probably null
R2137:Trak1 UTSW 9 121472962 missense possibly damaging 0.83
R3162:Trak1 UTSW 9 121451734 splice site probably benign
R3888:Trak1 UTSW 9 121442797 splice site probably null
R3889:Trak1 UTSW 9 121445873 missense probably null 0.40
R4031:Trak1 UTSW 9 121451670 missense probably damaging 1.00
R4116:Trak1 UTSW 9 121448843 missense probably damaging 1.00
R4406:Trak1 UTSW 9 121431536 missense probably damaging 1.00
R4630:Trak1 UTSW 9 121454425 missense probably benign 0.02
R4631:Trak1 UTSW 9 121454425 missense probably benign 0.02
R4632:Trak1 UTSW 9 121454425 missense probably benign 0.02
R4786:Trak1 UTSW 9 121472494 missense probably benign 0.25
R5137:Trak1 UTSW 9 121367055 intron probably benign
R5159:Trak1 UTSW 9 121460412 missense probably damaging 0.99
R5467:Trak1 UTSW 9 121446798 missense probably damaging 1.00
R5661:Trak1 UTSW 9 121443637 missense possibly damaging 0.46
R5664:Trak1 UTSW 9 121472307 missense possibly damaging 0.47
R5769:Trak1 UTSW 9 121448838 missense probably damaging 1.00
R6041:Trak1 UTSW 9 121460412 missense probably damaging 0.99
R6257:Trak1 UTSW 9 121446755 missense probably damaging 1.00
R6257:Trak1 UTSW 9 121367224 missense possibly damaging 0.92
R6354:Trak1 UTSW 9 121451726 missense probably null 0.03
R6399:Trak1 UTSW 9 121453496 intron probably null
R6513:Trak1 UTSW 9 121443756 missense probably benign
R6579:Trak1 UTSW 9 121443638 missense probably benign 0.29
R6940:Trak1 UTSW 9 121443718 missense possibly damaging 0.78
R7120:Trak1 UTSW 9 121460498 missense probably benign
R7299:Trak1 UTSW 9 121451863 intron probably null
R7304:Trak1 UTSW 9 121416212 missense probably benign
R7396:Trak1 UTSW 9 121448907 missense possibly damaging 0.71
R7522:Trak1 UTSW 9 121442711 missense probably damaging 0.99
R7657:Trak1 UTSW 9 121472586 missense probably damaging 1.00
R7733:Trak1 UTSW 9 121367225 missense possibly damaging 0.92
R7793:Trak1 UTSW 9 121416198 nonsense probably null
R7999:Trak1 UTSW 9 121460425 missense probably damaging 1.00
R8209:Trak1 UTSW 9 121451727 missense probably benign
R8215:Trak1 UTSW 9 121469030 missense probably damaging 1.00
R8226:Trak1 UTSW 9 121451727 missense probably benign
R8261:Trak1 UTSW 9 121451667 missense probably damaging 1.00
R8300:Trak1 UTSW 9 121460499 nonsense probably null
Posted On2013-10-07