Incidental Mutation 'IGL02691:Tdrd1'
ID 303763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdrd1
Ensembl Gene ENSMUSG00000025081
Gene Name tudor domain containing 1
Synonyms MTR-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # IGL02691
Quality Score
Status
Chromosome 19
Chromosomal Location 56814641-56858444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56832284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 400 (E400D)
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: E400D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: E400D

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: E400D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: E400D

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: E400D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: E400D

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: E400D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: E400D

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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,457 (GRCm39) S40P probably benign Het
Actl9 G T 17: 33,652,092 (GRCm39) V51L probably damaging Het
Adcy6 A T 15: 98,502,185 (GRCm39) F143Y probably damaging Het
Agps A T 2: 75,722,204 (GRCm39) I465F probably benign Het
Armc3 T A 2: 19,240,295 (GRCm39) F17L probably damaging Het
Arsk A C 13: 76,223,069 (GRCm39) M176R probably damaging Het
Asz1 G A 6: 18,076,556 (GRCm39) T212I probably damaging Het
Atp6v1a A G 16: 43,931,982 (GRCm39) I102T probably damaging Het
Bpifb6 T A 2: 153,744,565 (GRCm39) L2Q unknown Het
Cad A G 5: 31,212,638 (GRCm39) Y45C probably damaging Het
Ccdc93 A G 1: 121,414,342 (GRCm39) D451G possibly damaging Het
Cenpj A G 14: 56,789,547 (GRCm39) I834T probably benign Het
Cyp2j12 C T 4: 96,021,231 (GRCm39) probably null Het
Dhx8 G A 11: 101,642,830 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,800,767 (GRCm39) probably benign Het
Ell2 T A 13: 75,904,605 (GRCm39) D99E probably damaging Het
Enpp1 G T 10: 24,587,790 (GRCm39) P34T probably damaging Het
Fras1 T A 5: 96,892,564 (GRCm39) V2888E possibly damaging Het
Gmfg A G 7: 28,144,295 (GRCm39) Y40C probably damaging Het
Gnal T C 18: 67,355,746 (GRCm39) I369T probably damaging Het
Gzmn T C 14: 56,404,370 (GRCm39) T156A probably benign Het
H2-DMb2 A T 17: 34,366,832 (GRCm39) H88L probably benign Het
Ighv7-3 T C 12: 114,117,016 (GRCm39) T49A probably benign Het
Jakmip3 C T 7: 138,628,573 (GRCm39) Q450* probably null Het
Klhl20 A T 1: 160,934,444 (GRCm39) probably benign Het
Klk6 A G 7: 43,477,924 (GRCm39) T99A probably benign Het
Lhx3 A G 2: 26,093,097 (GRCm39) C118R probably damaging Het
Mapkbp1 T C 2: 119,803,655 (GRCm39) probably benign Het
Naa15 A G 3: 51,358,747 (GRCm39) E294G probably damaging Het
Nfia C T 4: 97,970,045 (GRCm39) Q373* probably null Het
Notch2 C A 3: 98,042,923 (GRCm39) Y1429* probably null Het
Oc90 A G 15: 65,754,410 (GRCm39) S252P probably damaging Het
Or56a3b A G 7: 104,771,338 (GRCm39) I225V probably damaging Het
Or8k37 T C 2: 86,469,182 (GRCm39) Y290C probably damaging Het
Pde3b T A 7: 114,107,320 (GRCm39) probably benign Het
Pdss1 G A 2: 22,805,253 (GRCm39) V211I probably benign Het
Phactr1 G T 13: 43,231,213 (GRCm39) M226I probably benign Het
Phf11c A G 14: 59,622,236 (GRCm39) S259P probably damaging Het
Phf20l1 A G 15: 66,476,713 (GRCm39) N269S probably damaging Het
Piezo1 A G 8: 123,228,688 (GRCm39) V229A possibly damaging Het
Plcb2 T C 2: 118,541,444 (GRCm39) K997R probably benign Het
Ppm1m A T 9: 106,072,568 (GRCm39) V449E probably damaging Het
Ppp1r36dn T C 12: 76,498,073 (GRCm39) noncoding transcript Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rgs14 A G 13: 55,526,836 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scamp5 G T 9: 57,358,660 (GRCm39) R39S probably damaging Het
Slc5a6 C T 5: 31,199,518 (GRCm39) V15I probably damaging Het
Snx25 A T 8: 46,558,302 (GRCm39) V235E possibly damaging Het
Tln1 T C 4: 43,539,544 (GRCm39) R1593G probably benign Het
Trdv2-2 T C 14: 54,199,039 (GRCm39) F110L possibly damaging Het
Ush2a A C 1: 188,466,949 (GRCm39) Y2871S probably damaging Het
Vars2 A C 17: 35,971,140 (GRCm39) L592R probably damaging Het
Vipr2 T A 12: 116,099,849 (GRCm39) C239S probably benign Het
Vmn1r200 A T 13: 22,579,428 (GRCm39) D68V probably damaging Het
Vmn1r7 A T 6: 57,001,373 (GRCm39) S296T probably benign Het
Vmn2r95 T C 17: 18,672,120 (GRCm39) I619T probably benign 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
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
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
Posted On 2015-04-16