Incidental Mutation 'R3419:Tdrd1'
ID 266992
Institutional Source Beutler Lab
Gene Symbol Tdrd1
Ensembl Gene ENSMUSG00000025081
Gene Name tudor domain containing 1
Synonyms MTR-1
MMRRC Submission 040637-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R3419 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 56814641-56858444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56819663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 54 (N54K)
Ref Sequence ENSEMBL: ENSMUSP00000112786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078723] [ENSMUST00000111604] [ENSMUST00000111606] [ENSMUST00000121249]
AlphaFold Q99MV1
Predicted Effect possibly damaging
Transcript: ENSMUST00000078723
AA Change: N54K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: N54K

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 possibly damaging
Transcript: ENSMUST00000111604
AA Change: N54K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: N54K

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 possibly damaging
Transcript: ENSMUST00000111606
AA Change: N54K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: N54K

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 possibly damaging
Transcript: ENSMUST00000121249
AA Change: N54K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: N54K

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 0.0835 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Ankrd26 A G 6: 118,512,068 (GRCm39) L518P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Baz1a T C 12: 54,993,684 (GRCm39) K181E probably benign Het
Bend3 T C 10: 43,385,978 (GRCm39) S124P probably damaging Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
Dmbx1 G C 4: 115,777,873 (GRCm39) R64G probably benign Het
Dpy19l2 T C 9: 24,492,501 (GRCm39) E699G probably damaging Het
Dync2i1 C T 12: 116,188,597 (GRCm39) V666I probably benign Het
Eef2k T A 7: 120,485,093 (GRCm39) M320K probably damaging Het
Exoc5 A T 14: 49,260,735 (GRCm39) N377K probably damaging Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fchsd2 T A 7: 100,927,867 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gm17093 A G 14: 44,759,047 (GRCm39) I190V unknown Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Hoxd10 A G 2: 74,522,921 (GRCm39) K200E probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lacc1 T G 14: 77,272,321 (GRCm39) E158D probably benign Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mapk6 T C 9: 75,305,039 (GRCm39) E126G probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Or2h1b A T 17: 37,462,242 (GRCm39) V53E probably damaging Het
Or52e15 A G 7: 104,645,727 (GRCm39) I128T probably damaging Het
Or8g17 C T 9: 38,930,372 (GRCm39) C155Y probably benign Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Paqr3 A G 5: 97,247,559 (GRCm39) L183P probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pik3r1 T C 13: 101,828,723 (GRCm39) D25G probably benign Het
Poc5 A T 13: 96,540,925 (GRCm39) T365S possibly damaging Het
Polr3a A G 14: 24,517,103 (GRCm39) L716P probably damaging Het
Ppp1r3a A T 6: 14,719,413 (GRCm39) D500E probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Snrnp48 G A 13: 38,405,335 (GRCm39) D248N possibly damaging Het
St6galnac4 A G 2: 32,485,743 (GRCm39) T217A probably damaging Het
Tmem30c A G 16: 57,098,031 (GRCm39) V130A probably benign Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Tulp2 T A 7: 45,168,176 (GRCm39) M196K possibly damaging Het
Unc5b G A 10: 60,614,593 (GRCm39) R235W probably damaging Het
Vmn1r175 A T 7: 23,508,075 (GRCm39) M184K probably damaging Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Vmn2r9 A C 5: 108,994,299 (GRCm39) M450R 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
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
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'- ATTACACCTAATATGATGCCACGG -3'
(R):5'- TGGCTGTTGTGCTATCCCAG -3'

Sequencing Primer
(F):5'- GCCACGGAATAATTTGGAAGCCTC -3'
(R):5'- TCTGTGTTAAACCAAGTCAGAGGCC -3'
Posted On 2015-02-18