Incidental Mutation 'R0081:Tdrd1'
ID 19707
Institutional Source Beutler Lab
Gene Symbol Tdrd1
Ensembl Gene ENSMUSG00000025081
Gene Name tudor domain containing 1
Synonyms MTR-1
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R0081 (G1)
Quality Score 117
Status Validated
Chromosome 19
Chromosomal Location 56814641-56858444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56819703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 68 (Y68H)
Ref Sequence ENSEMBL: ENSMUSP00000112786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078723] [ENSMUST00000111604] [ENSMUST00000111606] [ENSMUST00000121249]
AlphaFold Q99MV1
Predicted Effect probably benign
Transcript: ENSMUST00000078723
AA Change: Y68H

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: Y68H

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Pfam:zf-MYND 163 199 3.5e-13 PFAM
TUDOR 306 365 6.45e-11 SMART
TUDOR 537 593 4.88e-11 SMART
low complexity region 698 714 N/A INTRINSIC
low complexity region 728 739 N/A INTRINSIC
TUDOR 755 813 3.97e-11 SMART
TUDOR 981 1038 1.27e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111604
AA Change: Y68H

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: Y68H

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Pfam:zf-MYND 163 199 3.5e-13 PFAM
TUDOR 306 365 6.45e-11 SMART
TUDOR 537 593 4.88e-11 SMART
low complexity region 698 714 N/A INTRINSIC
low complexity region 728 739 N/A INTRINSIC
TUDOR 755 813 3.97e-11 SMART
TUDOR 981 1038 1.27e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111606
AA Change: Y68H

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: Y68H

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Pfam:zf-MYND 163 199 3.5e-13 PFAM
TUDOR 306 365 6.45e-11 SMART
TUDOR 537 593 4.88e-11 SMART
low complexity region 698 714 N/A INTRINSIC
low complexity region 728 739 N/A INTRINSIC
TUDOR 755 813 3.97e-11 SMART
TUDOR 981 1038 1.27e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121249
AA Change: Y68H

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: Y68H

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Pfam:zf-MYND 163 199 9.9e-13 PFAM
TUDOR 306 365 6.45e-11 SMART
TUDOR 537 593 4.88e-11 SMART
low complexity region 698 714 N/A INTRINSIC
low complexity region 728 739 N/A INTRINSIC
TUDOR 755 813 3.97e-11 SMART
TUDOR 981 1038 1.27e-9 SMART
Meta Mutation Damage Score 0.1240 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile. [provided by MGI curators]
Allele List at MGI

 All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G probably damaging Het
Other mutations in Tdrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Tdrd1 APN 19 56,839,896 (GRCm39) missense possibly damaging 0.51
IGL01366:Tdrd1 APN 19 56,843,734 (GRCm39) missense probably benign 0.00
IGL01569:Tdrd1 APN 19 56,822,841 (GRCm39) missense probably damaging 1.00
IGL02691:Tdrd1 APN 19 56,832,284 (GRCm39) missense probably damaging 0.99
3-1:Tdrd1 UTSW 19 56,850,127 (GRCm39) missense probably benign
R0139:Tdrd1 UTSW 19 56,831,630 (GRCm39) missense probably benign 0.00
R0254:Tdrd1 UTSW 19 56,830,998 (GRCm39) missense probably benign 0.02
R0686:Tdrd1 UTSW 19 56,844,483 (GRCm39) missense probably damaging 1.00
R0735:Tdrd1 UTSW 19 56,854,410 (GRCm39) nonsense probably null
R0740:Tdrd1 UTSW 19 56,827,531 (GRCm39) missense probably damaging 1.00
R1241:Tdrd1 UTSW 19 56,850,192 (GRCm39) missense probably benign
R1294:Tdrd1 UTSW 19 56,837,208 (GRCm39) splice site probably null
R1508:Tdrd1 UTSW 19 56,839,790 (GRCm39) missense probably damaging 1.00
R1655:Tdrd1 UTSW 19 56,831,648 (GRCm39) nonsense probably null
R1708:Tdrd1 UTSW 19 56,830,721 (GRCm39) missense probably benign 0.13
R1796:Tdrd1 UTSW 19 56,826,215 (GRCm39) missense probably damaging 0.98
R1840:Tdrd1 UTSW 19 56,830,744 (GRCm39) missense probably damaging 1.00
R2138:Tdrd1 UTSW 19 56,831,021 (GRCm39) missense probably benign 0.30
R2201:Tdrd1 UTSW 19 56,847,094 (GRCm39) missense probably benign 0.00
R2201:Tdrd1 UTSW 19 56,847,093 (GRCm39) missense probably benign 0.14
R2286:Tdrd1 UTSW 19 56,827,551 (GRCm39) missense probably benign 0.05
R2443:Tdrd1 UTSW 19 56,829,786 (GRCm39) missense probably null 0.01
R3001:Tdrd1 UTSW 19 56,850,182 (GRCm39) nonsense probably null
R3002:Tdrd1 UTSW 19 56,850,182 (GRCm39) nonsense probably null
R3418:Tdrd1 UTSW 19 56,819,663 (GRCm39) missense possibly damaging 0.87
R3419:Tdrd1 UTSW 19 56,819,663 (GRCm39) missense possibly damaging 0.87
R3707:Tdrd1 UTSW 19 56,854,425 (GRCm39) missense possibly damaging 0.86
R3978:Tdrd1 UTSW 19 56,855,066 (GRCm39) missense probably benign 0.01
R4077:Tdrd1 UTSW 19 56,819,505 (GRCm39) missense probably benign 0.22
R4083:Tdrd1 UTSW 19 56,831,662 (GRCm39) missense probably benign
R4193:Tdrd1 UTSW 19 56,839,773 (GRCm39) nonsense probably null
R5882:Tdrd1 UTSW 19 56,837,371 (GRCm39) missense probably damaging 1.00
R6073:Tdrd1 UTSW 19 56,831,655 (GRCm39) nonsense probably null
R6223:Tdrd1 UTSW 19 56,854,282 (GRCm39) missense probably damaging 1.00
R6240:Tdrd1 UTSW 19 56,829,767 (GRCm39) missense probably benign 0.00
R6953:Tdrd1 UTSW 19 56,819,803 (GRCm39) missense probably damaging 0.98
R7090:Tdrd1 UTSW 19 56,839,833 (GRCm39) missense probably benign 0.28
R7643:Tdrd1 UTSW 19 56,826,140 (GRCm39) missense probably damaging 1.00
R7793:Tdrd1 UTSW 19 56,852,809 (GRCm39) missense probably damaging 0.99
R7972:Tdrd1 UTSW 19 56,837,134 (GRCm39) missense probably damaging 0.98
R7993:Tdrd1 UTSW 19 56,854,437 (GRCm39) splice site probably null
R8076:Tdrd1 UTSW 19 56,832,267 (GRCm39) missense probably damaging 0.96
R8346:Tdrd1 UTSW 19 56,830,699 (GRCm39) missense probably benign 0.44
R8400:Tdrd1 UTSW 19 56,837,081 (GRCm39) missense probably benign 0.05
R8553:Tdrd1 UTSW 19 56,831,584 (GRCm39) missense probably damaging 0.99
R8701:Tdrd1 UTSW 19 56,839,916 (GRCm39) missense possibly damaging 0.94
R8772:Tdrd1 UTSW 19 56,843,760 (GRCm39) missense probably damaging 0.99
R8906:Tdrd1 UTSW 19 56,831,145 (GRCm39) missense probably damaging 0.99
R9222:Tdrd1 UTSW 19 56,831,679 (GRCm39) missense probably benign 0.38
R9321:Tdrd1 UTSW 19 56,848,767 (GRCm39) missense probably damaging 1.00
R9665:Tdrd1 UTSW 19 56,819,572 (GRCm39) missense probably benign 0.04
R9747:Tdrd1 UTSW 19 56,847,101 (GRCm39) missense probably benign 0.17
R9756:Tdrd1 UTSW 19 56,831,662 (GRCm39) missense probably benign
X0020:Tdrd1 UTSW 19 56,844,492 (GRCm39) missense probably damaging 1.00
X0053:Tdrd1 UTSW 19 56,854,223 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGCCACGGAATAATTTGGAAGCCTC -3'
(R):5'- GTCCTTTCTACATCGCTGACTGGG -3'

Sequencing Primer
(F):5'- CCTCTACTTGTAAAATGGCAGAGC -3'
(R):5'- CCTTTCTGTGATTAACGAAGCCAAG -3'
Posted On 2013-04-11