Incidental Mutation 'R1596:Trank1'
ID 175815
Institutional Source Beutler Lab
Gene Symbol Trank1
Ensembl Gene ENSMUSG00000062296
Gene Name tetratricopeptide repeat and ankyrin repeat containing 1
Synonyms LOC235639, C030048J01Rik, A230061D21Rik, Lba1
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1596 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 111140807-111224843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111195358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1127 (H1127Q)
Ref Sequence ENSEMBL: ENSMUSP00000077697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078626]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000078626
AA Change: H1127Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: H1127Q

DomainStartEndE-ValueType
low complexity region 4 30 N/A INTRINSIC
low complexity region 34 52 N/A INTRINSIC
low complexity region 113 129 N/A INTRINSIC
Blast:TPR 144 177 1e-15 BLAST
Blast:TPR 178 209 8e-13 BLAST
Blast:ANK 332 361 1e-6 BLAST
ANK 369 405 5.29e0 SMART
ANK 538 567 2.11e2 SMART
ANK 572 609 7.29e2 SMART
ANK 621 652 1.21e2 SMART
low complexity region 887 895 N/A INTRINSIC
low complexity region 1152 1172 N/A INTRINSIC
Blast:AAA 1351 1569 1e-6 BLAST
low complexity region 2166 2177 N/A INTRINSIC
low complexity region 2395 2411 N/A INTRINSIC
low complexity region 2636 2649 N/A INTRINSIC
low complexity region 2966 2983 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,426,018 (GRCm39) probably benign Het
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cst5 T C 2: 149,247,329 (GRCm39) V15A unknown Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mbd2 T A 18: 70,749,703 (GRCm39) M306K probably damaging Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Or6z5 T C 7: 6,477,514 (GRCm39) L135P probably damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Ramp1 T C 1: 91,151,022 (GRCm39) V129A possibly damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in Trank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Trank1 APN 9 111,221,677 (GRCm39) missense probably damaging 1.00
IGL00467:Trank1 APN 9 111,193,734 (GRCm39) splice site probably benign
IGL00569:Trank1 APN 9 111,174,579 (GRCm39) missense possibly damaging 0.69
IGL00585:Trank1 APN 9 111,178,358 (GRCm39) missense possibly damaging 0.82
IGL01070:Trank1 APN 9 111,195,861 (GRCm39) missense probably damaging 1.00
IGL01134:Trank1 APN 9 111,220,849 (GRCm39) missense probably benign
IGL01154:Trank1 APN 9 111,215,468 (GRCm39) missense probably benign 0.00
IGL01355:Trank1 APN 9 111,194,588 (GRCm39) missense possibly damaging 0.94
IGL01407:Trank1 APN 9 111,193,790 (GRCm39) missense probably damaging 0.99
IGL01410:Trank1 APN 9 111,194,117 (GRCm39) missense probably benign 0.00
IGL01410:Trank1 APN 9 111,194,327 (GRCm39) missense probably benign 0.00
IGL01504:Trank1 APN 9 111,202,612 (GRCm39) missense probably damaging 1.00
IGL01744:Trank1 APN 9 111,178,431 (GRCm39) missense probably damaging 1.00
IGL02043:Trank1 APN 9 111,193,028 (GRCm39) missense probably damaging 0.98
IGL02104:Trank1 APN 9 111,219,780 (GRCm39) missense possibly damaging 0.85
IGL02193:Trank1 APN 9 111,196,344 (GRCm39) missense probably benign 0.43
IGL02581:Trank1 APN 9 111,212,193 (GRCm39) missense probably benign 0.00
IGL02630:Trank1 APN 9 111,202,143 (GRCm39) missense possibly damaging 0.70
IGL02839:Trank1 APN 9 111,193,824 (GRCm39) missense probably damaging 1.00
IGL02897:Trank1 APN 9 111,196,585 (GRCm39) missense probably damaging 0.99
IGL03065:Trank1 APN 9 111,219,361 (GRCm39) missense possibly damaging 0.64
IGL03123:Trank1 APN 9 111,196,475 (GRCm39) missense probably damaging 1.00
IGL03143:Trank1 APN 9 111,195,155 (GRCm39) missense probably damaging 1.00
IGL03323:Trank1 APN 9 111,181,184 (GRCm39) missense probably damaging 1.00
1mM(1):Trank1 UTSW 9 111,222,049 (GRCm39) missense probably damaging 1.00
PIT4486001:Trank1 UTSW 9 111,219,175 (GRCm39) missense probably damaging 1.00
PIT4812001:Trank1 UTSW 9 111,176,980 (GRCm39) missense probably damaging 1.00
R0035:Trank1 UTSW 9 111,195,844 (GRCm39) missense probably benign 0.00
R0064:Trank1 UTSW 9 111,172,263 (GRCm39) missense probably damaging 1.00
R0064:Trank1 UTSW 9 111,172,263 (GRCm39) missense probably damaging 1.00
R0089:Trank1 UTSW 9 111,221,978 (GRCm39) missense probably benign 0.00
R0207:Trank1 UTSW 9 111,195,321 (GRCm39) missense probably damaging 1.00
R0255:Trank1 UTSW 9 111,195,092 (GRCm39) missense possibly damaging 0.92
R0334:Trank1 UTSW 9 111,222,008 (GRCm39) missense probably damaging 1.00
R0334:Trank1 UTSW 9 111,194,421 (GRCm39) missense probably benign 0.00
R0383:Trank1 UTSW 9 111,220,545 (GRCm39) missense probably benign 0.08
R0421:Trank1 UTSW 9 111,220,907 (GRCm39) missense probably damaging 1.00
R0494:Trank1 UTSW 9 111,220,361 (GRCm39) missense probably benign 0.19
R0518:Trank1 UTSW 9 111,162,876 (GRCm39) missense probably damaging 1.00
R0560:Trank1 UTSW 9 111,220,154 (GRCm39) missense possibly damaging 0.88
R0637:Trank1 UTSW 9 111,219,509 (GRCm39) missense probably damaging 1.00
R0731:Trank1 UTSW 9 111,194,556 (GRCm39) missense probably damaging 1.00
R0761:Trank1 UTSW 9 111,195,681 (GRCm39) missense probably damaging 1.00
R0766:Trank1 UTSW 9 111,176,537 (GRCm39) missense probably benign 0.45
R0827:Trank1 UTSW 9 111,178,485 (GRCm39) unclassified probably benign
R1005:Trank1 UTSW 9 111,162,789 (GRCm39) missense probably benign 0.13
R1108:Trank1 UTSW 9 111,194,375 (GRCm39) missense probably benign 0.00
R1155:Trank1 UTSW 9 111,196,038 (GRCm39) missense possibly damaging 0.95
R1470:Trank1 UTSW 9 111,172,300 (GRCm39) missense possibly damaging 0.91
R1470:Trank1 UTSW 9 111,172,300 (GRCm39) missense possibly damaging 0.91
R1601:Trank1 UTSW 9 111,202,545 (GRCm39) missense probably damaging 1.00
R1751:Trank1 UTSW 9 111,220,547 (GRCm39) missense probably benign
R1754:Trank1 UTSW 9 111,221,939 (GRCm39) missense probably benign 0.00
R1767:Trank1 UTSW 9 111,220,547 (GRCm39) missense probably benign
R1768:Trank1 UTSW 9 111,221,995 (GRCm39) missense probably damaging 0.96
R1809:Trank1 UTSW 9 111,221,893 (GRCm39) missense probably benign 0.34
R1912:Trank1 UTSW 9 111,219,777 (GRCm39) missense probably benign 0.00
R1920:Trank1 UTSW 9 111,176,996 (GRCm39) critical splice donor site probably null
R1960:Trank1 UTSW 9 111,220,696 (GRCm39) missense probably damaging 1.00
R1993:Trank1 UTSW 9 111,207,900 (GRCm39) missense probably benign 0.20
R2012:Trank1 UTSW 9 111,194,096 (GRCm39) missense probably benign
R2025:Trank1 UTSW 9 111,221,107 (GRCm39) missense probably benign 0.01
R2050:Trank1 UTSW 9 111,193,856 (GRCm39) missense probably damaging 1.00
R2857:Trank1 UTSW 9 111,196,001 (GRCm39) missense probably benign 0.00
R2912:Trank1 UTSW 9 111,221,551 (GRCm39) missense probably damaging 0.98
R2962:Trank1 UTSW 9 111,181,148 (GRCm39) missense probably damaging 1.00
R3030:Trank1 UTSW 9 111,220,598 (GRCm39) missense possibly damaging 0.63
R3821:Trank1 UTSW 9 111,207,887 (GRCm39) missense probably damaging 1.00
R3822:Trank1 UTSW 9 111,207,887 (GRCm39) missense probably damaging 1.00
R3892:Trank1 UTSW 9 111,193,827 (GRCm39) missense probably benign 0.03
R4105:Trank1 UTSW 9 111,181,265 (GRCm39) missense probably damaging 1.00
R4166:Trank1 UTSW 9 111,202,592 (GRCm39) nonsense probably null
R4237:Trank1 UTSW 9 111,196,103 (GRCm39) missense probably benign 0.04
R4239:Trank1 UTSW 9 111,196,103 (GRCm39) missense probably benign 0.04
R4394:Trank1 UTSW 9 111,194,265 (GRCm39) missense possibly damaging 0.86
R4417:Trank1 UTSW 9 111,195,036 (GRCm39) missense probably benign 0.17
R4611:Trank1 UTSW 9 111,191,329 (GRCm39) missense probably damaging 1.00
R4694:Trank1 UTSW 9 111,221,129 (GRCm39) missense probably benign 0.40
R4731:Trank1 UTSW 9 111,219,478 (GRCm39) missense probably damaging 1.00
R4843:Trank1 UTSW 9 111,195,146 (GRCm39) missense probably benign 0.00
R4852:Trank1 UTSW 9 111,220,963 (GRCm39) missense possibly damaging 0.68
R4859:Trank1 UTSW 9 111,194,078 (GRCm39) missense probably benign 0.17
R4868:Trank1 UTSW 9 111,194,709 (GRCm39) missense probably damaging 1.00
R5080:Trank1 UTSW 9 111,218,289 (GRCm39) missense probably damaging 0.99
R5156:Trank1 UTSW 9 111,219,762 (GRCm39) missense probably damaging 1.00
R5174:Trank1 UTSW 9 111,194,627 (GRCm39) missense probably benign 0.00
R5234:Trank1 UTSW 9 111,215,535 (GRCm39) missense probably damaging 1.00
R5386:Trank1 UTSW 9 111,191,470 (GRCm39) missense probably benign 0.12
R5419:Trank1 UTSW 9 111,220,369 (GRCm39) missense probably damaging 1.00
R5435:Trank1 UTSW 9 111,220,958 (GRCm39) missense probably benign 0.00
R5444:Trank1 UTSW 9 111,222,026 (GRCm39) missense probably benign 0.04
R5543:Trank1 UTSW 9 111,195,180 (GRCm39) missense probably damaging 0.97
R5560:Trank1 UTSW 9 111,219,635 (GRCm39) missense probably damaging 1.00
R5772:Trank1 UTSW 9 111,195,744 (GRCm39) missense possibly damaging 0.86
R5774:Trank1 UTSW 9 111,220,294 (GRCm39) missense probably damaging 1.00
R5843:Trank1 UTSW 9 111,194,928 (GRCm39) missense possibly damaging 0.59
R5858:Trank1 UTSW 9 111,221,604 (GRCm39) missense probably benign
R5878:Trank1 UTSW 9 111,195,753 (GRCm39) missense possibly damaging 0.93
R5900:Trank1 UTSW 9 111,220,784 (GRCm39) missense probably damaging 1.00
R5917:Trank1 UTSW 9 111,191,485 (GRCm39) missense probably benign 0.38
R5954:Trank1 UTSW 9 111,194,201 (GRCm39) missense probably benign 0.13
R6041:Trank1 UTSW 9 111,206,864 (GRCm39) missense possibly damaging 0.94
R6112:Trank1 UTSW 9 111,220,805 (GRCm39) missense probably damaging 1.00
R6165:Trank1 UTSW 9 111,220,940 (GRCm39) missense probably benign 0.00
R6255:Trank1 UTSW 9 111,181,314 (GRCm39) critical splice donor site probably null
R6395:Trank1 UTSW 9 111,196,268 (GRCm39) missense probably damaging 1.00
R6567:Trank1 UTSW 9 111,176,589 (GRCm39) missense probably benign 0.02
R6644:Trank1 UTSW 9 111,193,902 (GRCm39) missense possibly damaging 0.85
R6724:Trank1 UTSW 9 111,194,984 (GRCm39) missense probably damaging 1.00
R6788:Trank1 UTSW 9 111,219,747 (GRCm39) missense probably damaging 1.00
R6831:Trank1 UTSW 9 111,206,967 (GRCm39) missense probably benign 0.00
R6934:Trank1 UTSW 9 111,202,158 (GRCm39) missense probably damaging 0.99
R7127:Trank1 UTSW 9 111,194,864 (GRCm39) missense possibly damaging 0.85
R7206:Trank1 UTSW 9 111,174,583 (GRCm39) critical splice donor site probably null
R7236:Trank1 UTSW 9 111,202,142 (GRCm39) missense possibly damaging 0.93
R7247:Trank1 UTSW 9 111,196,580 (GRCm39) missense probably damaging 1.00
R7292:Trank1 UTSW 9 111,206,938 (GRCm39) missense probably benign 0.02
R7310:Trank1 UTSW 9 111,196,194 (GRCm39) missense probably damaging 1.00
R7431:Trank1 UTSW 9 111,191,470 (GRCm39) missense probably benign 0.12
R7448:Trank1 UTSW 9 111,195,417 (GRCm39) missense probably benign 0.01
R7477:Trank1 UTSW 9 111,194,025 (GRCm39) missense probably benign 0.00
R7514:Trank1 UTSW 9 111,193,824 (GRCm39) missense probably damaging 1.00
R7595:Trank1 UTSW 9 111,195,059 (GRCm39) missense probably damaging 1.00
R7637:Trank1 UTSW 9 111,194,364 (GRCm39) missense possibly damaging 0.71
R7648:Trank1 UTSW 9 111,220,753 (GRCm39) missense probably benign
R7737:Trank1 UTSW 9 111,195,080 (GRCm39) nonsense probably null
R7784:Trank1 UTSW 9 111,193,171 (GRCm39) missense probably damaging 1.00
R7884:Trank1 UTSW 9 111,221,584 (GRCm39) missense probably benign
R7912:Trank1 UTSW 9 111,220,596 (GRCm39) missense probably benign 0.04
R7938:Trank1 UTSW 9 111,194,096 (GRCm39) missense probably benign
R7979:Trank1 UTSW 9 111,206,967 (GRCm39) missense probably benign 0.00
R8064:Trank1 UTSW 9 111,181,144 (GRCm39) nonsense probably null
R8100:Trank1 UTSW 9 111,221,861 (GRCm39) missense probably damaging 1.00
R8124:Trank1 UTSW 9 111,207,995 (GRCm39) missense probably benign 0.31
R8198:Trank1 UTSW 9 111,219,880 (GRCm39) missense probably benign 0.09
R8219:Trank1 UTSW 9 111,193,977 (GRCm39) missense probably damaging 1.00
R8223:Trank1 UTSW 9 111,194,957 (GRCm39) missense probably damaging 1.00
R8316:Trank1 UTSW 9 111,178,370 (GRCm39) missense probably benign 0.38
R8347:Trank1 UTSW 9 111,196,317 (GRCm39) missense probably damaging 1.00
R8436:Trank1 UTSW 9 111,220,450 (GRCm39) missense possibly damaging 0.86
R8489:Trank1 UTSW 9 111,219,343 (GRCm39) missense probably benign 0.01
R8682:Trank1 UTSW 9 111,194,412 (GRCm39) missense probably benign 0.01
R8768:Trank1 UTSW 9 111,218,344 (GRCm39) missense probably benign 0.00
R8770:Trank1 UTSW 9 111,219,892 (GRCm39) missense probably benign 0.00
R8829:Trank1 UTSW 9 111,176,591 (GRCm39) missense probably benign
R8838:Trank1 UTSW 9 111,193,973 (GRCm39) missense probably benign 0.03
R8855:Trank1 UTSW 9 111,141,289 (GRCm39) missense unknown
R8929:Trank1 UTSW 9 111,208,003 (GRCm39) missense possibly damaging 0.93
R9047:Trank1 UTSW 9 111,191,500 (GRCm39) missense probably damaging 0.99
R9090:Trank1 UTSW 9 111,174,547 (GRCm39) missense probably damaging 1.00
R9114:Trank1 UTSW 9 111,162,843 (GRCm39) missense probably damaging 1.00
R9133:Trank1 UTSW 9 111,220,770 (GRCm39) missense possibly damaging 0.93
R9177:Trank1 UTSW 9 111,221,579 (GRCm39) missense probably benign 0.00
R9178:Trank1 UTSW 9 111,196,268 (GRCm39) missense probably damaging 1.00
R9271:Trank1 UTSW 9 111,174,547 (GRCm39) missense probably damaging 1.00
R9314:Trank1 UTSW 9 111,195,049 (GRCm39) missense probably damaging 1.00
R9373:Trank1 UTSW 9 111,194,259 (GRCm39) missense probably benign 0.25
R9380:Trank1 UTSW 9 111,221,738 (GRCm39) missense probably benign 0.07
R9435:Trank1 UTSW 9 111,193,890 (GRCm39) missense probably benign 0.04
R9501:Trank1 UTSW 9 111,176,943 (GRCm39) missense probably benign 0.00
R9593:Trank1 UTSW 9 111,191,365 (GRCm39) missense probably benign 0.30
R9601:Trank1 UTSW 9 111,202,193 (GRCm39) missense probably benign 0.18
R9729:Trank1 UTSW 9 111,220,537 (GRCm39) missense probably damaging 1.00
X0064:Trank1 UTSW 9 111,172,304 (GRCm39) missense possibly damaging 0.57
Z1088:Trank1 UTSW 9 111,193,778 (GRCm39) missense probably damaging 0.99
Z1177:Trank1 UTSW 9 111,221,938 (GRCm39) missense possibly damaging 0.47
Z1177:Trank1 UTSW 9 111,196,445 (GRCm39) missense possibly damaging 0.83
Z1177:Trank1 UTSW 9 111,140,970 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTCCTGTGTCCTTCGAAAGAAGCTG -3'
(R):5'- CCACCGTTTCCACTTTGATGGAACC -3'

Sequencing Primer
(F):5'- GAGTACAGCATCATGAAGTTCC -3'
(R):5'- CACTTTGATGGAACCCTCCTC -3'
Posted On 2014-04-24