Incidental Mutation 'R7759:Tdrd6'
ID 597767
Institutional Source Beutler Lab
Gene Symbol Tdrd6
Ensembl Gene ENSMUSG00000040140
Gene Name tudor domain containing 6
Synonyms
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 43926226-43941190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43935730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1773 (R1773S)
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: R1773S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: R1773S

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: R1773S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: R1773S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,682,514 (GRCm39) G215V probably benign Het
Adamts1 C A 16: 85,594,683 (GRCm39) G652C probably damaging Het
Adck1 G A 12: 88,368,887 (GRCm39) A122T possibly damaging Het
Akap1 A C 11: 88,736,659 (GRCm39) M34R probably damaging Het
Apc2 C T 10: 80,147,030 (GRCm39) R695C probably damaging Het
Apon T A 10: 128,090,384 (GRCm39) W21R probably benign Het
Arhgef16 T C 4: 154,371,432 (GRCm39) T254A probably benign Het
Arid5b T A 10: 67,933,632 (GRCm39) S757C probably damaging Het
B020004C17Rik A C 14: 57,254,242 (GRCm39) I122L possibly damaging Het
Bckdhb T G 9: 83,892,379 (GRCm39) V270G probably damaging Het
Cacna1d A G 14: 29,821,145 (GRCm39) Y1146H probably benign Het
Carmil2 A G 8: 106,423,668 (GRCm39) D1214G possibly damaging Het
Ccdc142 T C 6: 83,084,912 (GRCm39) V636A probably benign Het
Chd9 T C 8: 91,704,178 (GRCm39) probably null Het
Csmd3 A G 15: 47,561,569 (GRCm39) S1336P Het
Cubn A G 2: 13,352,961 (GRCm39) Y1926H probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Eme1 A T 11: 94,536,666 (GRCm39) Y504* probably null Het
Enah G A 1: 181,746,009 (GRCm39) A687V unknown Het
Endou A C 15: 97,611,747 (GRCm39) V339G probably damaging Het
Ephb6 G A 6: 41,591,539 (GRCm39) R232H probably benign Het
Ephx2 G A 14: 66,326,968 (GRCm39) A409V possibly damaging Het
Esd T A 14: 74,983,007 (GRCm39) C219* probably null Het
Fscb A T 12: 64,520,866 (GRCm39) M200K probably benign Het
Gabra6 A T 11: 42,208,508 (GRCm39) V108D probably damaging Het
Gm11555 A G 11: 99,540,568 (GRCm39) V137A unknown Het
Gpld1 A G 13: 25,146,383 (GRCm39) D209G probably damaging Het
Ikzf1 T A 11: 11,719,256 (GRCm39) I408N probably damaging Het
Itgb4 A G 11: 115,894,536 (GRCm39) R1364G possibly damaging Het
Kif26b A C 1: 178,506,509 (GRCm39) K195T probably damaging Het
Mfsd12 T C 10: 81,199,427 (GRCm39) W440R probably benign Het
Mtrr C T 13: 68,718,146 (GRCm39) E373K probably damaging Het
Mug2 T A 6: 122,058,317 (GRCm39) V1293E probably damaging Het
Myof C A 19: 37,928,346 (GRCm39) A1068S probably benign Het
Ncam2 A G 16: 81,412,672 (GRCm39) D720G probably damaging Het
Nova2 G T 7: 18,692,176 (GRCm39) G435V Het
Oacyl T A 18: 65,843,631 (GRCm39) D109E probably damaging Het
Or2y1g A T 11: 49,171,463 (GRCm39) M163L probably benign Het
Or56a4 G A 7: 104,806,232 (GRCm39) S219F probably damaging Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pdzd8 C A 19: 59,288,358 (GRCm39) R1014L probably damaging Het
Ppm1h T G 10: 122,740,018 (GRCm39) D364E probably benign Het
Rigi C A 4: 40,225,104 (GRCm39) A298S probably damaging Het
Rp1 T C 1: 4,415,107 (GRCm39) N2002D probably benign Het
Sall1 C T 8: 89,768,979 (GRCm39) probably null Het
Scn10a C T 9: 119,477,198 (GRCm39) W728* probably null Het
Setdb2 G T 14: 59,656,813 (GRCm39) T168K probably damaging Het
Sgms1 T C 19: 32,137,276 (GRCm39) I97V probably benign Het
Slc8a3 A T 12: 81,361,325 (GRCm39) M498K probably benign Het
Smpd4 A T 16: 17,456,497 (GRCm39) E362D probably damaging Het
Ssc5d A T 7: 4,940,529 (GRCm39) K881* probably null Het
Strn4 A G 7: 16,564,309 (GRCm39) E313G probably damaging Het
Tas2r113 A T 6: 132,870,890 (GRCm39) N306I possibly damaging Het
Thbs2 T C 17: 14,897,321 (GRCm39) E729G probably damaging Het
Tnfrsf23 G A 7: 143,224,572 (GRCm39) T135I probably damaging Het
Tollip A G 7: 141,438,276 (GRCm39) M218T probably benign Het
Tyk2 A T 9: 21,031,554 (GRCm39) probably null Het
Ubr2 G A 17: 47,296,974 (GRCm39) R269C probably damaging Het
Uggt1 A T 1: 36,185,806 (GRCm39) M1459K possibly damaging Het
Upf1 A G 8: 70,786,730 (GRCm39) V929A probably benign Het
Usp48 T C 4: 137,321,763 (GRCm39) S24P probably benign Het
Vmn1r214 G A 13: 23,218,631 (GRCm39) E42K not run Het
Vmn1r83 G T 7: 12,055,360 (GRCm39) D232E probably benign Het
Vmn2r25 C T 6: 123,800,339 (GRCm39) V668I probably damaging Het
Vmn2r6 A G 3: 64,463,991 (GRCm39) I281T probably damaging Het
Ywhag A T 5: 135,940,043 (GRCm39) Y184N probably damaging Het
Zdbf2 A C 1: 63,347,535 (GRCm39) E1971D possibly damaging Het
Zfp568 G A 7: 29,722,839 (GRCm39) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm39) D248G probably benign 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
R1819:Tdrd6 UTSW 17 43,937,442 (GRCm39) missense probably benign 0.00
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
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'- GGTACCTCTAGTGAACTCAGTTC -3'
(R):5'- TGCCCAAGAATGACCTGTCC -3'

Sequencing Primer
(F):5'- TAGTGAACTCAGTTCCAGTAACTCC -3'
(R):5'- GAATGACCTGTCCTCTGAGAAGC -3'
Posted On 2019-11-26