Incidental Mutation 'R3912:Tdrd12'
ID 474533
Institutional Source Beutler Lab
Gene Symbol Tdrd12
Ensembl Gene ENSMUSG00000030491
Gene Name tudor domain containing 12
Synonyms EG434165, 2410004F06Rik, ecat8, repro23, G1-476-14, 2410070K17Rik
MMRRC Submission 040910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R3912 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 35168523-35237170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35187138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 584 (I584T)
Ref Sequence ENSEMBL: ENSMUSP00000141796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187190] [ENSMUST00000193633]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000187190
AA Change: I559T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: I559T

DomainStartEndE-ValueType
Pfam:TUDOR 1 129 5.1e-24 PFAM
Pfam:DEAD 276 581 1.8e-6 PFAM
Pfam:TUDOR 852 973 4.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193633
AA Change: I584T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: I584T

DomainStartEndE-ValueType
Pfam:TUDOR 1 129 2.7e-24 PFAM
Pfam:DEAD 273 606 7.6e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygous males are infertile with small testes. Spermatogenesis is arrested predominantly at the pachytene spermatocyte stage. Retrotransposon hopping is derepressed in germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 A G 12: 84,063,806 (GRCm39) S305G probably damaging Het
Acot12 A G 13: 91,918,208 (GRCm39) D167G probably benign Het
Adgra1 T C 7: 139,425,630 (GRCm39) probably null Het
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Aopep G T 13: 63,304,520 (GRCm39) E402* probably null Het
Atp2c2 A G 8: 120,448,015 (GRCm39) K103E probably damaging Het
Camkk1 A G 11: 72,924,642 (GRCm39) D285G probably benign Het
Ccdc158 G C 5: 92,796,794 (GRCm39) T514S possibly damaging Het
Cdhr5 T A 7: 140,853,770 (GRCm39) D210V probably damaging Het
Cndp1 C T 18: 84,650,124 (GRCm39) D190N probably benign Het
Eepd1 C T 9: 25,394,600 (GRCm39) T288M probably damaging Het
Erbin G T 13: 103,998,795 (GRCm39) T197K probably benign Het
Erbin G A 13: 104,022,846 (GRCm39) probably benign Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Gm14326 T C 2: 177,587,658 (GRCm39) K446R probably damaging Het
Herc2 T C 7: 55,748,185 (GRCm39) Y518H probably damaging Het
Id2 T A 12: 25,145,871 (GRCm39) K47* probably null Het
Ilf2 A G 3: 90,394,367 (GRCm39) N295S probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Mroh9 C T 1: 162,893,638 (GRCm39) C179Y probably damaging Het
Mrps18b C T 17: 36,221,831 (GRCm39) V165I probably benign Het
Myrip A G 9: 120,261,682 (GRCm39) S432G probably benign Het
Nutm2 C T 13: 50,626,976 (GRCm39) A377V possibly damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Pax7 C A 4: 139,508,209 (GRCm39) W272L probably benign Het
Ppp1r12b C T 1: 134,815,056 (GRCm39) E320K probably damaging Het
Prg4 T C 1: 150,327,619 (GRCm39) Y278C probably damaging Het
Pvr T C 7: 19,643,217 (GRCm39) N339D probably benign Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Ryr2 A G 13: 11,787,313 (GRCm39) I1020T probably damaging Het
Scn4a T A 11: 106,211,542 (GRCm39) I1492F probably damaging Het
Sec16a C T 2: 26,304,399 (GRCm39) G2304D probably damaging Het
Shisa7 T A 7: 4,833,239 (GRCm39) R341* probably null Het
Slc19a3 T A 1: 83,000,424 (GRCm39) M198L probably benign Het
Slc26a8 T A 17: 28,863,753 (GRCm39) N669Y possibly damaging Het
Slco1a7 A G 6: 141,673,362 (GRCm39) F392S probably damaging Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Susd4 A T 1: 182,715,031 (GRCm39) Y284F probably damaging Het
Tas1r1 A T 4: 152,116,381 (GRCm39) Y418N probably damaging Het
Tmtc3 A C 10: 100,284,888 (GRCm39) N582K probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Vmn1r39 C T 6: 66,782,125 (GRCm39) M27I probably benign Het
Vmn2r59 T C 7: 41,695,744 (GRCm39) T223A probably benign Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Wnt3a A C 11: 59,140,828 (GRCm39) D229E possibly damaging Het
Other mutations in Tdrd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Tdrd12 APN 7 35,204,459 (GRCm39) missense possibly damaging 0.95
IGL01879:Tdrd12 APN 7 35,221,348 (GRCm39) missense probably damaging 1.00
IGL02026:Tdrd12 APN 7 35,203,658 (GRCm39) splice site probably benign
IGL02186:Tdrd12 APN 7 35,200,826 (GRCm39) missense probably damaging 0.99
PIT4131001:Tdrd12 UTSW 7 35,180,528 (GRCm39) nonsense probably null
R0071:Tdrd12 UTSW 7 35,228,671 (GRCm39) missense possibly damaging 0.92
R0071:Tdrd12 UTSW 7 35,228,671 (GRCm39) missense possibly damaging 0.92
R0098:Tdrd12 UTSW 7 35,175,418 (GRCm39) missense probably damaging 1.00
R0366:Tdrd12 UTSW 7 35,208,227 (GRCm39) missense probably benign 0.25
R2050:Tdrd12 UTSW 7 35,228,672 (GRCm39) missense probably damaging 0.98
R2851:Tdrd12 UTSW 7 35,184,798 (GRCm39) missense probably damaging 1.00
R3715:Tdrd12 UTSW 7 35,204,405 (GRCm39) missense probably benign 0.05
R3859:Tdrd12 UTSW 7 35,193,245 (GRCm39) missense possibly damaging 0.50
R4656:Tdrd12 UTSW 7 35,184,679 (GRCm39) missense probably damaging 1.00
R4826:Tdrd12 UTSW 7 35,203,582 (GRCm39) missense probably benign 0.00
R4969:Tdrd12 UTSW 7 35,186,720 (GRCm39) splice site probably null
R5202:Tdrd12 UTSW 7 35,189,455 (GRCm39) missense possibly damaging 0.49
R5321:Tdrd12 UTSW 7 35,177,519 (GRCm39) missense probably damaging 1.00
R5642:Tdrd12 UTSW 7 35,210,725 (GRCm39) missense probably damaging 0.99
R5709:Tdrd12 UTSW 7 35,175,478 (GRCm39) missense probably damaging 1.00
R5835:Tdrd12 UTSW 7 35,228,689 (GRCm39) missense probably damaging 1.00
R6029:Tdrd12 UTSW 7 35,184,655 (GRCm39) missense probably damaging 0.98
R6101:Tdrd12 UTSW 7 35,180,558 (GRCm39) nonsense probably null
R6341:Tdrd12 UTSW 7 35,189,473 (GRCm39) missense probably damaging 1.00
R6631:Tdrd12 UTSW 7 35,184,654 (GRCm39) missense probably damaging 0.99
R6939:Tdrd12 UTSW 7 35,185,024 (GRCm39) critical splice donor site probably null
R7032:Tdrd12 UTSW 7 35,180,471 (GRCm39) nonsense probably null
R7058:Tdrd12 UTSW 7 35,177,534 (GRCm39) missense unknown
R7096:Tdrd12 UTSW 7 35,187,014 (GRCm39) missense
R7203:Tdrd12 UTSW 7 35,188,648 (GRCm39) nonsense probably null
R7229:Tdrd12 UTSW 7 35,179,705 (GRCm39) missense unknown
R7265:Tdrd12 UTSW 7 35,187,147 (GRCm39) missense
R7284:Tdrd12 UTSW 7 35,179,561 (GRCm39) splice site probably null
R7347:Tdrd12 UTSW 7 35,185,117 (GRCm39) missense
R7501:Tdrd12 UTSW 7 35,177,516 (GRCm39) missense unknown
R7789:Tdrd12 UTSW 7 35,188,117 (GRCm39) missense
R8374:Tdrd12 UTSW 7 35,177,486 (GRCm39) missense unknown
R8379:Tdrd12 UTSW 7 35,223,482 (GRCm39) nonsense probably null
R8798:Tdrd12 UTSW 7 35,228,605 (GRCm39) missense probably damaging 1.00
R9053:Tdrd12 UTSW 7 35,204,468 (GRCm39) missense probably damaging 1.00
R9062:Tdrd12 UTSW 7 35,179,694 (GRCm39) missense unknown
R9491:Tdrd12 UTSW 7 35,188,689 (GRCm39) missense
R9745:Tdrd12 UTSW 7 35,185,964 (GRCm39) critical splice acceptor site probably null
Predicted Primers
Posted On 2017-04-14