Incidental Mutation 'R6354:Trak1'
ID 512972
Institutional Source Beutler Lab
Gene Symbol Trak1
Ensembl Gene ENSMUSG00000032536
Gene Name trafficking protein, kinesin binding 1
Synonyms hyrt, 2310001H13Rik
MMRRC Submission 044506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6354 (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 121280792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 384 (T384S)
Ref Sequence ENSEMBL: ENSMUSP00000147624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210351] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]
AlphaFold Q6PD31
Predicted Effect probably null
Transcript: ENSMUST00000045903
AA Change: T394S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T394S

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: ENSMUST00000210351
Predicted Effect probably null
Transcript: ENSMUST00000210798
AA Change: T291S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably null
Transcript: ENSMUST00000211187
AA Change: T384S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000211301
AA Change: T291S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably null
Transcript: ENSMUST00000211439
AA Change: T291S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211699
Meta Mutation Damage Score 0.0774 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,685,042 (GRCm39) K152E probably benign Het
Adamts20 C A 15: 94,245,691 (GRCm39) C537F probably damaging Het
Apc A T 18: 34,445,581 (GRCm39) T808S probably benign Het
Atad3a A G 4: 155,838,402 (GRCm39) I205T possibly damaging Het
Casz1 G T 4: 149,036,999 (GRCm39) G1754C unknown Het
Ccdc62 C T 5: 124,082,267 (GRCm39) A232V probably damaging Het
Cdc27 C A 11: 104,425,574 (GRCm39) D81Y probably damaging Het
Cep126 A G 9: 8,099,928 (GRCm39) S869P probably damaging Het
Cfap251 C T 5: 123,440,818 (GRCm39) T1125I probably damaging Het
Ciita A T 16: 10,341,610 (GRCm39) K983N probably damaging Het
Cimap1a A G 7: 140,430,527 (GRCm39) probably null Het
Clstn1 A C 4: 149,727,673 (GRCm39) Q523P probably benign Het
Cpb2 T C 14: 75,495,145 (GRCm39) probably null Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Csmd3 C T 15: 47,744,885 (GRCm39) G1370D probably damaging Het
Cwf19l1 G T 19: 44,115,912 (GRCm39) D172E probably benign Het
Cyp4a14 A G 4: 115,344,441 (GRCm39) F475L probably damaging Het
Fam98c C T 7: 28,852,272 (GRCm39) V298M probably damaging Het
Gcsh T C 8: 117,710,582 (GRCm39) N127S probably benign Het
Gimap4 T C 6: 48,663,814 (GRCm39) F10S possibly damaging Het
Gm4787 C T 12: 81,424,755 (GRCm39) A468T probably damaging Het
Gm5111 G A 6: 48,567,268 (GRCm39) probably benign Het
Gm7137 C A 10: 77,623,481 (GRCm39) probably benign Het
Inpp1 A G 1: 52,836,224 (GRCm39) S81P probably damaging Het
Iqce T C 5: 140,662,090 (GRCm39) probably null Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Krtap13 C A 16: 88,548,131 (GRCm39) C119F probably damaging Het
Lama2 G T 10: 27,088,064 (GRCm39) D904E probably damaging Het
Lrrc37a T A 11: 103,355,213 (GRCm39) I2535F unknown Het
Lrrc40 T A 3: 157,766,901 (GRCm39) L452* probably null Het
Meis1 A T 11: 18,966,184 (GRCm39) M63K possibly damaging Het
Mpo T A 11: 87,688,172 (GRCm39) I277N possibly damaging Het
Mtmr11 T A 3: 96,075,992 (GRCm39) F406I probably benign Het
Muc4 T C 16: 32,575,476 (GRCm39) S1411P probably benign Het
Or2y1b A T 11: 49,208,465 (GRCm39) I31F probably damaging Het
Or4c102 T A 2: 88,422,478 (GRCm39) I110N probably damaging Het
Or56a5 G A 7: 104,792,915 (GRCm39) T195I probably benign Het
Phf21a G A 2: 92,179,282 (GRCm39) G298R probably damaging Het
Phldb2 T C 16: 45,645,477 (GRCm39) Y368C probably damaging Het
Pik3cb G T 9: 98,955,696 (GRCm39) T407K probably benign Het
Robo3 A T 9: 37,328,513 (GRCm39) probably benign Het
Sgsm1 T G 5: 113,430,522 (GRCm39) T288P probably damaging Het
Slc5a7 A G 17: 54,584,061 (GRCm39) S410P probably damaging Het
Tmc6 A C 11: 117,665,062 (GRCm39) C404G probably benign Het
Tnrc6c A T 11: 117,640,440 (GRCm39) Q1410L possibly damaging Het
Txlna A T 4: 129,528,205 (GRCm39) L244Q probably damaging Het
Ube3c T C 5: 29,868,581 (GRCm39) F939L probably damaging Het
Vmn2r65 T A 7: 84,589,574 (GRCm39) I781F probably benign Het
Vmn2r72 A G 7: 85,399,747 (GRCm39) probably null Het
Vps36 T C 8: 22,695,771 (GRCm39) S109P probably damaging Het
Wrn T C 8: 33,833,666 (GRCm39) I82M possibly damaging Het
Zbtb49 T C 5: 38,360,903 (GRCm39) R511G possibly damaging Het
Zeb1 A G 18: 5,772,743 (GRCm39) T1011A possibly damaging Het
Zfhx4 T C 3: 5,467,011 (GRCm39) S2390P probably benign Het
Zfp619 C A 7: 39,184,243 (GRCm39) T91K probably benign Het
Zfp644 A G 5: 106,784,619 (GRCm39) S643P 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
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
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'- CATGGCTTGGCAGATTCTCTC -3'
(R):5'- TGAGCTCCAGCCTTAGAGAG -3'

Sequencing Primer
(F):5'- TGTATGGCATGAAGTCTGGAGAC -3'
(R):5'- TCCAGCCTTAGAGAGATGTCACTG -3'
Posted On 2018-04-27