Incidental Mutation 'IGL01986:Trak1'
ID181926
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: 0.368) question?
Stock #IGL01986
Quality Score
Status
Chromosome9
Chromosomal Location121297502-121474918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121472967 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 930 (A930T)
Ref Sequence ENSEMBL: ENSMUSP00000044482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210798] [ENSMUST00000211301]
Predicted Effect probably benign
Transcript: ENSMUST00000045903
AA Change: A930T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: A930T

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: ENSMUST00000209446
Predicted Effect probably benign
Transcript: ENSMUST00000210798
Predicted Effect probably benign
Transcript: ENSMUST00000211301
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,441,036 I245F possibly damaging Het
Abca3 G A 17: 24,408,114 G1263D probably damaging Het
Arap2 A T 5: 62,621,922 S1442T probably damaging Het
Arl15 C A 13: 113,922,366 S56R possibly damaging Het
C530008M17Rik T A 5: 76,858,610 S939R unknown Het
Ccdc38 A T 10: 93,579,843 N415Y probably damaging Het
Ccny G A 18: 9,377,817 R81C probably damaging Het
Csmd3 T C 15: 47,659,195 T2693A possibly damaging Het
Fancm C T 12: 65,126,655 Q1914* probably null Het
Fuk T C 8: 110,883,257 T1042A probably benign Het
Gm18856 G A 13: 13,964,828 probably benign Het
Gramd1a A T 7: 31,134,009 L610Q possibly damaging Het
Hsd17b4 C A 18: 50,160,126 probably benign Het
Hspa12a A G 19: 58,799,402 S663P probably benign Het
Insr C T 8: 3,158,817 V1215I probably damaging Het
Kdr A G 5: 75,952,859 V783A probably benign Het
Klhl9 T C 4: 88,721,779 D75G probably damaging Het
Lmntd1 A G 6: 145,419,807 S53P probably damaging Het
Lrrc41 T A 4: 116,089,322 F411L probably benign Het
Lyst G A 13: 13,775,627 probably null Het
Mmp17 A G 5: 129,596,628 H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 R154Q probably damaging Het
Olfr1123 A G 2: 87,418,536 I163V probably benign Het
Olfr1182 C T 2: 88,446,495 V148I probably benign Het
Olfr124 A G 17: 37,806,066 K307R probably damaging Het
Olfr285 T C 15: 98,312,779 Y257C probably damaging Het
Pcsk6 G A 7: 65,927,877 R60H probably damaging Het
Polk T C 13: 96,483,823 D623G probably benign Het
Rlf A T 4: 121,148,106 C1226S probably damaging Het
Rpa2 C T 4: 132,771,880 P87S probably benign Het
Rpa2 C T 4: 132,771,881 P87L probably benign Het
Sema5a T C 15: 32,682,360 probably benign Het
Sis A T 3: 72,945,212 M529K probably damaging Het
Sspo T C 6: 48,483,303 M3375T probably benign Het
Syne3 A T 12: 104,968,000 L83Q probably damaging Het
Tec A T 5: 72,782,005 Y222* probably null Het
Tfap2d C T 1: 19,119,159 probably benign Het
Ugt2b34 G T 5: 86,901,252 H305N probably benign Het
Vmn2r95 A G 17: 18,440,211 N295S probably benign 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
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 splice site 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 splice site 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 On2014-05-07