Incidental Mutation 'R1226:Tdrd6'
ID 152255
Institutional Source Beutler Lab
Gene Symbol Tdrd6
Ensembl Gene ENSMUSG00000040140
Gene Name tudor domain containing 6
Synonyms
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43926226-43941190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43937523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1175 (E1175V)
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: E1175V

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: E1175V

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 possibly damaging
Transcript: ENSMUST00000168073
AA Change: E1175V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: E1175V

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: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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
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'- TGTTGCCCACTGAGTCCTGATACG -3'
(R):5'- CCATGCAAGCCTTGAAATGCTCC -3'

Sequencing Primer
(F):5'- GCTGAGCCCTGTAAATATCTGAG -3'
(R):5'- GAAATGCTCCTTATCGGACATC -3'
Posted On 2014-01-29