Incidental Mutation 'IGL02556:Trak1'
ID298494
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 #IGL02556
Quality Score
Status
Chromosome9
Chromosomal Location121297502-121474918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121448901 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 341 (N341I)
Ref Sequence ENSEMBL: ENSMUSP00000147624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210351] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]
Predicted Effect probably damaging
Transcript: ENSMUST00000045903
AA Change: N351I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: N351I

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: ENSMUST00000210351
Predicted Effect probably benign
Transcript: ENSMUST00000210636
Predicted Effect probably damaging
Transcript: ENSMUST00000210798
AA Change: N248I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211187
AA Change: N341I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211301
AA Change: N248I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211439
AA Change: N248I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,610,717 probably null Het
Ace A G 11: 105,972,527 D376G probably damaging Het
Adgrb1 C T 15: 74,586,805 T1252I probably damaging Het
Bhmt T C 13: 93,637,500 probably benign Het
Ckap5 T C 2: 91,594,841 probably benign Het
Clcn4 T C 7: 7,296,066 T37A probably benign Het
Cnmd C T 14: 79,661,960 V18I probably benign Het
Cryl1 C T 14: 57,276,021 V248M probably benign Het
D830039M14Rik C T 10: 61,475,483 probably benign Het
Dido1 T C 2: 180,689,335 T107A possibly damaging Het
Efna5 C A 17: 62,651,028 V78F probably damaging Het
Eml1 A G 12: 108,537,366 I741V probably benign Het
Gfap A G 11: 102,896,954 L55P probably damaging Het
Gm884 A G 11: 103,613,283 S2620P probably benign Het
Itga6 A G 2: 71,838,683 I606V probably benign Het
Kif2c G T 4: 117,162,605 D579E probably damaging Het
Lef1 T C 3: 131,194,793 probably null Het
Lrrc1 T A 9: 77,435,122 I357L probably benign Het
Map3k20 T A 2: 72,371,895 F157I probably damaging Het
Naga A T 15: 82,330,136 N391K probably damaging Het
Ncaph T C 2: 127,126,105 probably benign Het
Olfr103 T A 17: 37,336,996 M79L probably benign Het
Olfr290 T G 7: 84,916,359 Y193* probably null Het
Olfr6 T A 7: 106,956,391 I182F possibly damaging Het
Olfr744 C A 14: 50,618,728 Q169K probably benign Het
Olfr769 T G 10: 129,112,035 Y130S probably damaging Het
Olfr972 T A 9: 39,873,610 C112S possibly damaging Het
Pappa C A 4: 65,156,626 D472E possibly damaging Het
Pdxk G A 10: 78,451,485 L81F probably damaging Het
Pkhd1 G T 1: 20,310,710 T2635K probably damaging Het
Psmb6 A T 11: 70,526,422 H99L possibly damaging Het
Ptpn6 C T 6: 124,728,660 G135E probably benign Het
Ptprz1 T A 6: 22,972,845 D251E probably benign Het
Ralgapa1 A G 12: 55,642,449 V1955A possibly damaging Het
Rsph4a T C 10: 33,905,152 probably benign Het
Sh2d4b T C 14: 40,820,743 T359A probably benign Het
Sh3bp5l A G 11: 58,346,261 D348G probably damaging Het
Skint5 A T 4: 113,940,735 M217K probably damaging Het
Slc30a6 T C 17: 74,404,059 L49P probably damaging Het
Slc8a1 C T 17: 81,648,744 M288I probably benign Het
Tmem127 C A 2: 127,256,002 probably null Het
Tnfrsf17 T C 16: 11,313,947 probably benign Het
Ubr5 A G 15: 38,002,448 I1453T probably benign Het
Wdr62 T C 7: 30,245,284 probably null Het
Xrn2 T C 2: 147,038,296 probably benign Het
Zscan10 C T 17: 23,608,145 A144V possibly damaging Het
Other mutations in Trak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Trak1 APN 9 121443736 critical splice donor site probably null
IGL01335:Trak1 APN 9 121454316 missense possibly damaging 0.58
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
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 On2015-04-16