Incidental Mutation 'R3889:Trak1'
ID 310193
Institutional Source Beutler Lab
Gene Symbol Trak1
Ensembl Gene ENSMUSG00000032536
Gene Name trafficking protein, kinesin binding 1
Synonyms hyrt, 2310001H13Rik
MMRRC Submission 040801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R3889 (G1)
Quality Score 172
Status Validated
Chromosome 9
Chromosomal Location 121126568-121303984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121274939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 146 (N146S)
Ref Sequence ENSEMBL: ENSMUSP00000148026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210351] [ENSMUST00000210351] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]
AlphaFold Q6PD31
Predicted Effect probably null
Transcript: ENSMUST00000045903
AA Change: N249S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: N249S

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 null
Transcript: ENSMUST00000210351
AA Change: N199S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably null
Transcript: ENSMUST00000210351
AA Change: N199S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably null
Transcript: ENSMUST00000210636
Predicted Effect probably null
Transcript: ENSMUST00000210798
AA Change: N146S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably null
Transcript: ENSMUST00000210798
AA Change: N146S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably null
Transcript: ENSMUST00000211187
AA Change: N239S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably null
Transcript: ENSMUST00000211187
AA Change: N239S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000211301
AA Change: N146S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably null
Transcript: ENSMUST00000211439
AA Change: N146S

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211699
Meta Mutation Damage Score 0.0823 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
7530416G11Rik A G 15: 85,378,292 (GRCm39) F117S unknown Het
Adamts5 A G 16: 85,665,009 (GRCm39) W652R probably damaging Het
Adamtsl4 G T 3: 95,588,167 (GRCm39) Q607K probably damaging Het
Atm T C 9: 53,417,936 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Baiap2l1 T C 5: 144,215,345 (GRCm39) T387A possibly damaging Het
Cct3 A T 3: 88,228,334 (GRCm39) Q472L probably benign Het
Chd3 C T 11: 69,250,011 (GRCm39) E623K probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dclre1a A T 19: 56,533,752 (GRCm39) C263S probably benign Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Elp1 G A 4: 56,759,852 (GRCm39) R1138C probably damaging Het
Epha3 A G 16: 63,431,327 (GRCm39) F526L probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fat2 C A 11: 55,172,589 (GRCm39) G2708V probably damaging Het
Fgd6 G A 10: 93,925,499 (GRCm39) E853K probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Fsd1 A G 17: 56,300,893 (GRCm39) K251E probably benign Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
H6pd T A 4: 150,080,230 (GRCm39) Y197F possibly damaging Het
Hip1r C T 5: 124,139,854 (GRCm39) R986* probably null Het
Igkv9-120 A G 6: 68,027,362 (GRCm39) D92G probably damaging Het
Il6 A G 5: 30,223,066 (GRCm39) K128E possibly damaging Het
Irf4 T C 13: 30,945,473 (GRCm39) probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Ltbp2 A G 12: 84,831,681 (GRCm39) probably benign Het
Pcmt1 C T 10: 7,524,814 (GRCm39) probably null Het
Plekhm2 C T 4: 141,369,301 (GRCm39) probably benign Het
Prkca C T 11: 107,870,066 (GRCm39) G450R probably damaging Het
Psme3 C A 11: 101,210,282 (GRCm39) P82T probably damaging Het
Rgs11 T C 17: 26,426,561 (GRCm39) I262T probably damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpina1e A T 12: 103,917,132 (GRCm39) V179E probably damaging Het
Sgo2b T C 8: 64,380,777 (GRCm39) Q685R possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc25a45 C T 19: 5,930,661 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Spen A G 4: 141,205,192 (GRCm39) V1145A unknown Het
Stub1 T C 17: 26,050,276 (GRCm39) probably benign Het
Taar8a A G 10: 23,952,923 (GRCm39) I176V probably benign Het
Tacr2 G A 10: 62,100,865 (GRCm39) C325Y probably damaging Het
Tbc1d17 T A 7: 44,495,362 (GRCm39) H154L probably damaging Het
Tll1 A T 8: 64,658,258 (GRCm39) C54S possibly damaging Het
Tpsb2 G A 17: 25,586,457 (GRCm39) V181I probably damaging Het
Vmn1r177 T C 7: 23,565,289 (GRCm39) I196V possibly damaging Het
Zfp820 T C 17: 22,037,877 (GRCm39) I484V 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
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 PCR Primer
(F):5'- CAGGTGAGGTATGTCTCTGC -3'
(R):5'- ATGGCTCTCGACTCACAAAC -3'

Sequencing Primer
(F):5'- TGTTGAAAGGGATCATACCAGAGCC -3'
(R):5'- TCGACTCACAAACAAGCAAAGGTTG -3'
Posted On 2015-04-17