Incidental Mutation 'R1508:Tdrd1'
ID 168100
Institutional Source Beutler Lab
Gene Symbol Tdrd1
Ensembl Gene ENSMUSG00000025081
Gene Name tudor domain containing 1
Synonyms MTR-1
MMRRC Submission 040869-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R1508 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 56814641-56858444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56839790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 617 (E617K)
Ref Sequence ENSEMBL: ENSMUSP00000112786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078723] [ENSMUST00000111604] [ENSMUST00000111606] [ENSMUST00000121249]
AlphaFold Q99MV1
Predicted Effect probably damaging
Transcript: ENSMUST00000078723
AA Change: E617K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: E617K

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 damaging
Transcript: ENSMUST00000111604
AA Change: E617K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: E617K

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 damaging
Transcript: ENSMUST00000111606
AA Change: E617K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: E617K

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 damaging
Transcript: ENSMUST00000121249
AA Change: E617K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: E617K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 T C 4: 111,513,595 (GRCm39) I447T probably benign Het
Albfm1 A G 5: 90,729,780 (GRCm39) E401G probably benign Het
Alpk2 C A 18: 65,482,376 (GRCm39) G544V probably damaging Het
Apob T C 12: 8,061,481 (GRCm39) I3321T possibly damaging Het
Ccdc47 C T 11: 106,093,242 (GRCm39) D70N probably damaging Het
Ceacam13 T A 7: 17,744,996 (GRCm39) V22D possibly damaging Het
Cep76 A G 18: 67,756,358 (GRCm39) M491T probably damaging Het
Clec4a3 A T 6: 122,944,467 (GRCm39) N171I probably benign Het
Col20a1 A G 2: 180,634,370 (GRCm39) I112V probably damaging Het
Col4a4 A T 1: 82,433,557 (GRCm39) L1462H unknown Het
Cubn A G 2: 13,431,916 (GRCm39) F1226L probably benign Het
Cyp4a31 T A 4: 115,422,250 (GRCm39) I77K possibly damaging Het
Dcaf1 A T 9: 106,731,376 (GRCm39) T618S probably damaging Het
Echdc3 A T 2: 6,211,231 (GRCm39) S129T probably benign Het
Efcab3 T C 11: 104,601,503 (GRCm39) V272A probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat1 T C 8: 45,479,899 (GRCm39) F2982L probably benign Het
Gm9476 A T 10: 100,142,700 (GRCm39) noncoding transcript Het
Golga1 A G 2: 38,913,261 (GRCm39) M542T probably benign Het
H2-D1 T A 17: 35,482,844 (GRCm39) C125S probably damaging Het
Jazf1 G A 6: 52,789,166 (GRCm39) H103Y probably damaging Het
Klhl12 T C 1: 134,416,712 (GRCm39) V478A possibly damaging Het
Lpcat2b A T 5: 107,581,330 (GRCm39) T220S probably damaging Het
Myocd C T 11: 65,075,342 (GRCm39) C594Y probably damaging Het
Nf1 A G 11: 79,331,735 (GRCm39) E700G probably damaging Het
Or52z15 T C 7: 103,332,678 (GRCm39) V251A possibly damaging Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Papln A G 12: 83,829,690 (GRCm39) Q937R probably damaging Het
Pex14 T C 4: 149,052,029 (GRCm39) R147G probably damaging Het
Plppr3 A T 10: 79,703,374 (GRCm39) Y37N probably damaging Het
Polr1b A G 2: 128,955,654 (GRCm39) T522A probably benign Het
Ppp3cb T C 14: 20,574,492 (GRCm39) N201S probably damaging Het
Prf1 A G 10: 61,139,329 (GRCm39) D429G probably damaging Het
Ptprn2 T C 12: 117,148,342 (GRCm39) S701P probably damaging Het
Rp1l1 C T 14: 64,268,341 (GRCm39) T1309I possibly damaging Het
Sipa1l1 T A 12: 82,487,667 (GRCm39) M1647K probably damaging Het
Skint11 T C 4: 114,088,963 (GRCm39) probably null Het
Slc8a2 T C 7: 15,874,522 (GRCm39) Y257H probably benign Het
Slfn1 T A 11: 83,012,181 (GRCm39) I99N probably damaging Het
Slit2 A G 5: 48,349,591 (GRCm39) T282A probably damaging Het
Slit3 A T 11: 35,461,448 (GRCm39) D228V probably damaging Het
Specc1l A G 10: 75,143,072 (GRCm39) N1031S probably benign Het
Supt6 A G 11: 78,107,029 (GRCm39) probably null Het
Tex15 C G 8: 34,066,880 (GRCm39) F2103L probably damaging Het
Trim21 T A 7: 102,208,783 (GRCm39) Q312L possibly damaging Het
Trim56 C T 5: 137,142,791 (GRCm39) A242T probably benign Het
Usp4 T C 9: 108,249,873 (GRCm39) V467A probably benign Het
Vmn2r65 T A 7: 84,589,886 (GRCm39) I677L probably benign Het
Vstm4 T C 14: 32,585,511 (GRCm39) V26A probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zfat T A 15: 68,050,600 (GRCm39) K807I 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
R0081:Tdrd1 UTSW 19 56,819,703 (GRCm39) missense probably benign 0.16
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
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'- AAAGCCGGTATTCCTTCCTGGATTG -3'
(R):5'- GATGGCAAAGCCCGAGTCTATGAG -3'

Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- ACTCTCACTGTGACCATCCT -3'
Posted On 2014-04-13