Incidental Mutation 'R1819:Tdrd6'
ID 204753
Institutional Source Beutler Lab
Gene Symbol Tdrd6
Ensembl Gene ENSMUSG00000040140
Gene Name tudor domain containing 6
Synonyms
MMRRC Submission 039847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1819 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 43926226-43941190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43937442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1202 (S1202N)
Ref Sequence ENSEMBL: ENSMUSP00000131277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045717] [ENSMUST00000168073]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045717
AA Change: S1202N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: S1202N

DomainStartEndE-ValueType
Pfam:TUDOR 14 133 9.9e-9 PFAM
low complexity region 166 187 N/A INTRINSIC
TUDOR 308 366 1.14e-2 SMART
low complexity region 452 463 N/A INTRINSIC
TUDOR 541 597 2.68e-8 SMART
TUDOR 817 877 2.56e-5 SMART
TUDOR 1037 1090 5.36e-8 SMART
TUDOR 1357 1415 2.19e-13 SMART
TUDOR 1569 1628 3.1e-13 SMART
low complexity region 1826 1842 N/A INTRINSIC
low complexity region 1866 1876 N/A INTRINSIC
TUDOR 2026 2083 9.45e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168073
AA Change: S1202N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: S1202N

DomainStartEndE-ValueType
Pfam:TUDOR 12 133 7.2e-9 PFAM
low complexity region 166 187 N/A INTRINSIC
TUDOR 308 366 1.14e-2 SMART
low complexity region 452 463 N/A INTRINSIC
TUDOR 541 597 2.68e-8 SMART
TUDOR 817 877 2.56e-5 SMART
TUDOR 1037 1090 5.36e-8 SMART
TUDOR 1357 1415 2.19e-13 SMART
TUDOR 1569 1628 3.1e-13 SMART
low complexity region 1826 1842 N/A INTRINSIC
low complexity region 1866 1876 N/A INTRINSIC
TUDOR 2027 2084 9.45e-1 SMART
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit male fertility associated with arrested spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,871,882 (GRCm39) probably null Het
Abhd17a T C 10: 80,422,470 (GRCm39) T71A probably benign Het
Acad11 G A 9: 103,991,738 (GRCm39) probably null Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afdn A G 17: 14,071,110 (GRCm39) T783A probably damaging Het
Akap13 T A 7: 75,258,453 (GRCm39) M359K probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atl1 T C 12: 70,010,074 (GRCm39) S547P probably benign Het
Bace1 A T 9: 45,768,460 (GRCm39) T252S possibly damaging Het
BC034090 A G 1: 155,101,575 (GRCm39) S230P possibly damaging Het
Bnc2 A G 4: 84,210,111 (GRCm39) F778L possibly damaging Het
Capn2 T A 1: 182,300,162 (GRCm39) K609N probably benign Het
Capn8 T A 1: 182,426,391 (GRCm39) I242N probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc180 A G 4: 45,926,195 (GRCm39) E1135G possibly damaging Het
Ccdc181 C T 1: 164,110,047 (GRCm39) Q385* probably null Het
Cdh10 G T 15: 18,992,051 (GRCm39) G437* probably null Het
Ceacam1 T A 7: 25,163,285 (GRCm39) Q316L possibly damaging Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cers4 T A 8: 4,571,232 (GRCm39) M267K probably benign Het
Csmd3 T C 15: 47,617,131 (GRCm39) D1930G possibly damaging Het
Cyp2j11 A T 4: 96,185,976 (GRCm39) V403D probably damaging Het
Cyp4v3 G A 8: 45,768,673 (GRCm39) R296C possibly damaging Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dus2 T A 8: 106,778,480 (GRCm39) W377R probably damaging Het
E330034G19Rik A G 14: 24,348,081 (GRCm39) D111G probably damaging Het
Erich4 C T 7: 25,314,715 (GRCm39) R66Q possibly damaging Het
Fcgbp G T 7: 27,784,708 (GRCm39) R256L probably benign Het
Fdxr A T 11: 115,166,930 (GRCm39) F53Y probably damaging Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Foxo3 A T 10: 42,073,607 (GRCm39) D84E probably benign Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Gli3 C T 13: 15,900,377 (GRCm39) Q1255* probably null Het
Gm4847 T A 1: 166,465,788 (GRCm39) H267L probably damaging Het
Gpr171 T C 3: 59,005,341 (GRCm39) I145V probably benign Het
Gpr68 T A 12: 100,844,662 (GRCm39) H294L possibly damaging Het
Gys2 T C 6: 142,406,912 (GRCm39) E148G probably damaging Het
Heatr5b T C 17: 79,098,940 (GRCm39) D1320G probably damaging Het
Ifnlr1 G T 4: 135,413,834 (GRCm39) probably benign Het
Ift88 G A 14: 57,692,976 (GRCm39) E392K probably damaging Het
Igsf9b T A 9: 27,222,889 (GRCm39) S97T probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kcnj11 C T 7: 45,748,580 (GRCm39) G248S probably benign Het
Kif28 T C 1: 179,533,319 (GRCm39) K541E possibly damaging Het
Lilrb4a A G 10: 51,372,124 (GRCm39) Y205C probably damaging Het
Lima1 T A 15: 99,717,817 (GRCm39) H63L probably benign Het
Lonrf3 A G X: 35,622,361 (GRCm39) I687V probably damaging Het
Lrba A G 3: 86,449,941 (GRCm39) T2099A possibly damaging Het
Morn5 C T 2: 35,942,987 (GRCm39) T29M probably damaging Het
Neurl1b G A 17: 26,657,674 (GRCm39) R22H probably benign Het
Nr2e3 T C 9: 59,850,720 (GRCm39) I380V probably damaging Het
Oas1c G A 5: 120,946,800 (GRCm39) A10V possibly damaging Het
Or1e35 T C 11: 73,797,505 (GRCm39) E271G probably benign Het
Or52e8 C T 7: 104,624,605 (GRCm39) V196I probably benign Het
P3h3 T C 6: 124,831,895 (GRCm39) T297A probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Plec C T 15: 76,064,106 (GRCm39) R2056Q probably damaging Het
Plxna2 T A 1: 194,472,494 (GRCm39) N1079K probably benign Het
Prr12 G C 7: 44,698,121 (GRCm39) probably benign Het
Psip1 A G 4: 83,376,400 (GRCm39) S480P probably benign Het
Ptpre A G 7: 135,270,722 (GRCm39) probably benign Het
Pvalb A C 15: 78,086,784 (GRCm39) V44G probably damaging Het
Rab3c T G 13: 110,220,669 (GRCm39) Q164P possibly damaging Het
Rubcn T C 16: 32,647,284 (GRCm39) K703R possibly damaging Het
Setd7 T G 3: 51,450,060 (GRCm39) H122P probably benign Het
Slc26a8 A T 17: 28,903,808 (GRCm39) F19I probably benign Het
Slc6a14 A G X: 21,607,286 (GRCm39) D625G probably benign Het
Snx6 C T 12: 54,830,259 (GRCm39) V67I possibly damaging Het
Syngr3 A G 17: 24,906,696 (GRCm39) F40L possibly damaging Het
Syt8 G A 7: 141,991,971 (GRCm39) G21R possibly damaging Het
Tagln A G 9: 45,842,138 (GRCm39) F152L probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tekt2 T C 4: 126,217,529 (GRCm39) K179E probably damaging Het
Tekt4 G T 17: 25,692,785 (GRCm39) probably null Het
Tmprss5 G T 9: 49,018,464 (GRCm39) R98L probably benign Het
Tns1 G T 1: 73,955,635 (GRCm39) probably benign Het
Tpcn1 A C 5: 120,674,292 (GRCm39) probably null Het
Ttc6 T C 12: 57,741,286 (GRCm39) probably null Het
Ttf1 A G 2: 28,964,796 (GRCm39) N706S possibly damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr17 A T 8: 55,143,159 (GRCm39) S140T probably benign Het
Wdr19 A T 5: 65,370,234 (GRCm39) I123F possibly damaging Het
Zer1 C T 2: 30,000,230 (GRCm39) A317T probably benign Het
Zfp474 A G 18: 52,771,872 (GRCm39) D175G probably damaging Het
Zfp598 T C 17: 24,900,104 (GRCm39) probably benign Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null Het
Other mutations in Tdrd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tdrd6 APN 17 43,939,051 (GRCm39) missense probably damaging 0.96
IGL00844:Tdrd6 APN 17 43,928,087 (GRCm39) missense probably benign
IGL00845:Tdrd6 APN 17 43,937,607 (GRCm39) missense probably benign 0.06
IGL01558:Tdrd6 APN 17 43,936,659 (GRCm39) missense probably damaging 1.00
IGL01558:Tdrd6 APN 17 43,935,657 (GRCm39) missense probably benign 0.02
IGL01575:Tdrd6 APN 17 43,938,871 (GRCm39) missense probably benign 0.00
IGL01812:Tdrd6 APN 17 43,936,065 (GRCm39) missense probably benign 0.10
IGL02013:Tdrd6 APN 17 43,936,837 (GRCm39) missense probably benign 0.00
IGL02067:Tdrd6 APN 17 43,939,100 (GRCm39) missense probably damaging 1.00
IGL02112:Tdrd6 APN 17 43,940,242 (GRCm39) missense probably damaging 1.00
IGL02159:Tdrd6 APN 17 43,939,281 (GRCm39) missense probably damaging 1.00
IGL02226:Tdrd6 APN 17 43,938,093 (GRCm39) missense probably damaging 1.00
IGL02416:Tdrd6 APN 17 43,935,629 (GRCm39) missense probably benign 0.39
IGL02577:Tdrd6 APN 17 43,937,728 (GRCm39) missense probably damaging 0.99
IGL02631:Tdrd6 APN 17 43,937,110 (GRCm39) missense probably damaging 1.00
IGL02738:Tdrd6 APN 17 43,931,337 (GRCm39) missense probably benign 0.06
IGL02792:Tdrd6 APN 17 43,935,918 (GRCm39) missense probably benign
IGL02929:Tdrd6 APN 17 43,940,604 (GRCm39) missense possibly damaging 0.61
IGL02934:Tdrd6 APN 17 43,938,778 (GRCm39) missense probably benign 0.42
IGL02954:Tdrd6 APN 17 43,938,153 (GRCm39) missense possibly damaging 0.82
IGL02969:Tdrd6 APN 17 43,938,440 (GRCm39) missense probably damaging 0.98
IGL03006:Tdrd6 APN 17 43,936,323 (GRCm39) missense probably damaging 1.00
IGL03155:Tdrd6 APN 17 43,936,398 (GRCm39) missense probably damaging 1.00
IGL03219:Tdrd6 APN 17 43,938,855 (GRCm39) missense probably benign 0.04
IGL03372:Tdrd6 APN 17 43,936,459 (GRCm39) missense probably damaging 1.00
Edward UTSW 17 43,938,106 (GRCm39) missense probably damaging 1.00
eliza UTSW 17 43,939,053 (GRCm39) missense possibly damaging 0.90
Elizabeth UTSW 17 43,935,095 (GRCm39) missense probably benign 0.00
henry UTSW 17 43,939,050 (GRCm39) missense probably damaging 0.99
BB001:Tdrd6 UTSW 17 43,938,697 (GRCm39) missense possibly damaging 0.94
BB011:Tdrd6 UTSW 17 43,938,697 (GRCm39) missense possibly damaging 0.94
G1citation:Tdrd6 UTSW 17 43,938,106 (GRCm39) missense probably damaging 1.00
R0030:Tdrd6 UTSW 17 43,937,482 (GRCm39) missense possibly damaging 0.80
R0057:Tdrd6 UTSW 17 43,928,052 (GRCm39) splice site probably benign
R0090:Tdrd6 UTSW 17 43,939,132 (GRCm39) missense probably benign 0.00
R0270:Tdrd6 UTSW 17 43,935,199 (GRCm39) missense probably benign
R0463:Tdrd6 UTSW 17 43,936,452 (GRCm39) missense probably damaging 1.00
R0594:Tdrd6 UTSW 17 43,940,274 (GRCm39) missense probably damaging 1.00
R0650:Tdrd6 UTSW 17 43,939,050 (GRCm39) missense probably damaging 0.99
R1226:Tdrd6 UTSW 17 43,937,523 (GRCm39) missense possibly damaging 0.63
R1309:Tdrd6 UTSW 17 43,937,512 (GRCm39) missense probably benign
R1483:Tdrd6 UTSW 17 43,938,498 (GRCm39) missense probably benign 0.31
R1561:Tdrd6 UTSW 17 43,936,515 (GRCm39) missense probably damaging 0.96
R1574:Tdrd6 UTSW 17 43,936,515 (GRCm39) missense probably damaging 0.96
R1647:Tdrd6 UTSW 17 43,938,000 (GRCm39) missense possibly damaging 0.49
R1648:Tdrd6 UTSW 17 43,938,000 (GRCm39) missense possibly damaging 0.49
R1723:Tdrd6 UTSW 17 43,939,218 (GRCm39) missense possibly damaging 0.94
R1786:Tdrd6 UTSW 17 43,935,724 (GRCm39) missense probably benign 0.01
R1836:Tdrd6 UTSW 17 43,936,480 (GRCm39) missense probably benign 0.03
R1892:Tdrd6 UTSW 17 43,935,696 (GRCm39) missense probably benign 0.00
R1911:Tdrd6 UTSW 17 43,937,979 (GRCm39) missense probably benign 0.21
R1936:Tdrd6 UTSW 17 43,937,358 (GRCm39) missense probably damaging 0.98
R2005:Tdrd6 UTSW 17 43,939,546 (GRCm39) missense probably damaging 1.00
R2006:Tdrd6 UTSW 17 43,939,546 (GRCm39) missense probably damaging 1.00
R2132:Tdrd6 UTSW 17 43,935,724 (GRCm39) missense probably benign 0.01
R2133:Tdrd6 UTSW 17 43,935,724 (GRCm39) missense probably benign 0.01
R3010:Tdrd6 UTSW 17 43,938,933 (GRCm39) missense probably benign 0.00
R4225:Tdrd6 UTSW 17 43,936,864 (GRCm39) missense probably damaging 1.00
R4448:Tdrd6 UTSW 17 43,940,626 (GRCm39) missense probably benign 0.26
R4449:Tdrd6 UTSW 17 43,940,626 (GRCm39) missense probably benign 0.26
R4531:Tdrd6 UTSW 17 43,939,645 (GRCm39) missense probably damaging 0.98
R4624:Tdrd6 UTSW 17 43,936,881 (GRCm39) missense probably damaging 0.99
R4665:Tdrd6 UTSW 17 43,935,007 (GRCm39) missense probably benign
R4676:Tdrd6 UTSW 17 43,938,501 (GRCm39) missense probably damaging 0.96
R4785:Tdrd6 UTSW 17 43,936,467 (GRCm39) missense probably damaging 1.00
R4912:Tdrd6 UTSW 17 43,935,218 (GRCm39) missense probably benign 0.34
R5134:Tdrd6 UTSW 17 43,937,101 (GRCm39) missense probably damaging 1.00
R5145:Tdrd6 UTSW 17 43,936,966 (GRCm39) missense probably damaging 0.96
R5623:Tdrd6 UTSW 17 43,940,224 (GRCm39) missense probably damaging 1.00
R5712:Tdrd6 UTSW 17 43,937,299 (GRCm39) missense probably damaging 1.00
R5897:Tdrd6 UTSW 17 43,935,768 (GRCm39) missense probably damaging 0.98
R5913:Tdrd6 UTSW 17 43,939,302 (GRCm39) missense possibly damaging 0.73
R6142:Tdrd6 UTSW 17 43,940,373 (GRCm39) missense probably benign 0.01
R6181:Tdrd6 UTSW 17 43,939,788 (GRCm39) missense probably damaging 1.00
R6195:Tdrd6 UTSW 17 43,940,643 (GRCm39) missense probably damaging 1.00
R6233:Tdrd6 UTSW 17 43,940,643 (GRCm39) missense probably damaging 1.00
R6289:Tdrd6 UTSW 17 43,935,411 (GRCm39) missense probably benign 0.01
R6315:Tdrd6 UTSW 17 43,937,229 (GRCm39) missense probably benign 0.02
R6578:Tdrd6 UTSW 17 43,939,852 (GRCm39) missense possibly damaging 0.65
R6645:Tdrd6 UTSW 17 43,935,423 (GRCm39) missense probably benign 0.10
R6822:Tdrd6 UTSW 17 43,938,106 (GRCm39) missense probably damaging 1.00
R7000:Tdrd6 UTSW 17 43,938,599 (GRCm39) missense probably benign 0.28
R7075:Tdrd6 UTSW 17 43,936,065 (GRCm39) missense probably benign 0.10
R7107:Tdrd6 UTSW 17 43,935,095 (GRCm39) missense probably benign 0.00
R7381:Tdrd6 UTSW 17 43,936,984 (GRCm39) missense probably benign 0.00
R7458:Tdrd6 UTSW 17 43,935,937 (GRCm39) missense probably benign 0.02
R7461:Tdrd6 UTSW 17 43,938,817 (GRCm39) missense probably benign 0.00
R7505:Tdrd6 UTSW 17 43,938,570 (GRCm39) missense not run
R7583:Tdrd6 UTSW 17 43,935,129 (GRCm39) missense probably benign 0.29
R7613:Tdrd6 UTSW 17 43,938,817 (GRCm39) missense probably benign 0.00
R7723:Tdrd6 UTSW 17 43,936,851 (GRCm39) missense probably benign 0.09
R7759:Tdrd6 UTSW 17 43,935,730 (GRCm39) missense probably benign 0.00
R7924:Tdrd6 UTSW 17 43,938,697 (GRCm39) missense possibly damaging 0.94
R8002:Tdrd6 UTSW 17 43,940,710 (GRCm39) missense probably damaging 0.98
R8134:Tdrd6 UTSW 17 43,937,064 (GRCm39) missense probably damaging 0.99
R8231:Tdrd6 UTSW 17 43,933,026 (GRCm39) missense probably damaging 1.00
R8242:Tdrd6 UTSW 17 43,939,821 (GRCm39) missense probably damaging 1.00
R8542:Tdrd6 UTSW 17 43,935,783 (GRCm39) missense probably damaging 1.00
R8713:Tdrd6 UTSW 17 43,935,910 (GRCm39) missense probably benign 0.28
R9100:Tdrd6 UTSW 17 43,936,305 (GRCm39) missense possibly damaging 0.76
R9201:Tdrd6 UTSW 17 43,936,561 (GRCm39) missense probably benign 0.00
R9222:Tdrd6 UTSW 17 43,939,231 (GRCm39) missense probably damaging 1.00
R9369:Tdrd6 UTSW 17 43,936,217 (GRCm39) missense probably damaging 1.00
R9373:Tdrd6 UTSW 17 43,939,053 (GRCm39) missense possibly damaging 0.90
R9384:Tdrd6 UTSW 17 43,937,783 (GRCm39) missense probably benign 0.26
R9448:Tdrd6 UTSW 17 43,936,567 (GRCm39) missense probably benign
R9534:Tdrd6 UTSW 17 43,936,510 (GRCm39) missense probably benign 0.19
R9613:Tdrd6 UTSW 17 43,939,518 (GRCm39) missense probably damaging 0.99
X0065:Tdrd6 UTSW 17 43,936,884 (GRCm39) missense probably damaging 0.99
X0065:Tdrd6 UTSW 17 43,936,044 (GRCm39) missense possibly damaging 0.80
Z1088:Tdrd6 UTSW 17 43,937,409 (GRCm39) missense probably benign 0.23
Z1177:Tdrd6 UTSW 17 43,938,078 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGAGCTGGCAAATATGTCTTC -3'
(R):5'- GTAGCCAAAGACCCAGATGG -3'

Sequencing Primer
(F):5'- TCTCCCTTGTTAATGGAAACCC -3'
(R):5'- GACTGATTATAGAGCTGTATGACGAC -3'
Posted On 2014-06-23