Incidental Mutation 'R4502:Tdrd5'
ID 331835
Institutional Source Beutler Lab
Gene Symbol Tdrd5
Ensembl Gene ENSMUSG00000060985
Gene Name tudor domain containing 5
Synonyms
MMRRC Submission 041754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R4502 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 156082866-156131234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156128334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 141 (M141L)
Ref Sequence ENSEMBL: ENSMUSP00000137182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121146] [ENSMUST00000141760] [ENSMUST00000167528]
AlphaFold Q5VCS6
Predicted Effect probably benign
Transcript: ENSMUST00000121146
AA Change: M218L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: M218L

DomainStartEndE-ValueType
Pfam:OST-HTH 6 76 3.7e-11 PFAM
Pfam:OST-HTH 126 194 1.5e-10 PFAM
Pfam:OST-HTH 290 361 7.4e-10 PFAM
TUDOR 532 590 3.25e-7 SMART
low complexity region 739 753 N/A INTRINSIC
low complexity region 1001 1021 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141760
SMART Domains Protein: ENSMUSP00000137156
Gene: ENSMUSG00000060985

DomainStartEndE-ValueType
Pfam:OST-HTH 6 75 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167528
AA Change: M141L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: M141L

DomainStartEndE-ValueType
Pfam:OST-HTH 6 75 1.4e-9 PFAM
Pfam:OST-HTH 213 284 6.4e-9 PFAM
TUDOR 455 513 3.25e-7 SMART
low complexity region 662 676 N/A INTRINSIC
low complexity region 924 944 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195064
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with defective spermatid elongation, occasional arrested male meiosis, and apoptosis of male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b A C 3: 20,369,962 (GRCm39) Y215D probably damaging Het
Arf5 T C 6: 28,425,775 (GRCm39) V123A possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atm A G 9: 53,407,246 (GRCm39) V1164A possibly damaging Het
Atp6v0d1 A G 8: 106,292,430 (GRCm39) C39R probably damaging Het
Bmp8a T A 4: 123,236,192 (GRCm39) S104C probably damaging Het
Cand1 T C 10: 119,052,572 (GRCm39) T185A probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Chodl A G 16: 78,728,332 (GRCm39) S26G possibly damaging Het
Cic C T 7: 24,987,892 (GRCm39) P620S probably damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Dpyd G T 3: 118,591,186 (GRCm39) G225C probably damaging Het
Dst G A 1: 34,286,772 (GRCm39) V5560M probably damaging Het
Eea1 G A 10: 95,875,427 (GRCm39) E1233K probably benign Het
Fryl T C 5: 73,245,740 (GRCm39) D1139G probably damaging Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Hc T C 2: 34,896,264 (GRCm39) D1173G probably benign Het
Htr2a T A 14: 74,879,428 (GRCm39) M19K probably benign Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Kcnt2 G T 1: 140,435,485 (GRCm39) C484F probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klhl1 A G 14: 96,755,282 (GRCm39) S158P probably benign Het
Ldb2 T C 5: 44,826,749 (GRCm39) D62G probably damaging Het
Ldhb T C 6: 142,436,183 (GRCm39) K329E possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Or2p2 A T 13: 21,256,916 (GRCm39) I185N probably damaging Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Or6aa1 T A 7: 86,044,485 (GRCm39) T74S possibly damaging Het
Pi4kb T A 3: 94,903,918 (GRCm39) H501Q probably benign Het
Ppargc1b T C 18: 61,435,750 (GRCm39) K910R probably benign Het
Ppp1r12a G T 10: 108,085,339 (GRCm39) R428I probably benign Het
Rbbp8nl G T 2: 179,920,989 (GRCm39) T465N possibly damaging Het
Rpl5 T C 5: 108,052,723 (GRCm39) F223S possibly damaging Het
Scpep1 T C 11: 88,835,211 (GRCm39) K154R probably benign Het
Sil1 T C 18: 35,450,928 (GRCm39) Y249C probably benign Het
Slc12a1 T A 2: 125,067,964 (GRCm39) L1017Q probably damaging Het
Slc2a9 T C 5: 38,556,154 (GRCm39) N264S probably benign Het
Slc49a4 T C 16: 35,539,787 (GRCm39) M345V probably benign Het
Tdrd9 T C 12: 111,960,259 (GRCm39) C182R probably damaging Het
Thap4 T C 1: 93,678,709 (GRCm39) probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tnks1bp1 C T 2: 84,892,991 (GRCm39) R973* probably null Het
Ulk3 A G 9: 57,500,512 (GRCm39) Y307C probably damaging Het
Usp25 T C 16: 76,912,284 (GRCm39) L1001P probably damaging Het
Vmn2r80 A T 10: 78,984,764 (GRCm39) T39S probably benign Het
Vps33b G A 7: 79,937,655 (GRCm39) A468T possibly damaging Het
Wnt9a T C 11: 59,219,363 (GRCm39) S130P probably damaging Het
Zfp236 T C 18: 82,655,079 (GRCm39) E730G probably benign Het
Zfp689 C A 7: 127,047,925 (GRCm39) V36L probably benign Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging Het
Other mutations in Tdrd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Tdrd5 APN 1 156,129,397 (GRCm39) missense probably benign 0.32
IGL02441:Tdrd5 APN 1 156,087,513 (GRCm39) splice site probably benign
IGL02932:Tdrd5 APN 1 156,098,190 (GRCm39) missense possibly damaging 0.52
R0049:Tdrd5 UTSW 1 156,129,473 (GRCm39) missense probably damaging 1.00
R0416:Tdrd5 UTSW 1 156,113,051 (GRCm39) missense probably damaging 0.96
R0518:Tdrd5 UTSW 1 156,090,511 (GRCm39) missense probably damaging 0.99
R1439:Tdrd5 UTSW 1 156,105,057 (GRCm39) missense probably damaging 1.00
R1454:Tdrd5 UTSW 1 156,087,406 (GRCm39) missense probably benign 0.41
R1497:Tdrd5 UTSW 1 156,083,372 (GRCm39) missense probably benign 0.28
R1774:Tdrd5 UTSW 1 156,105,079 (GRCm39) missense probably damaging 1.00
R2101:Tdrd5 UTSW 1 156,129,209 (GRCm39) missense probably damaging 1.00
R2125:Tdrd5 UTSW 1 156,104,143 (GRCm39) missense probably damaging 0.99
R2126:Tdrd5 UTSW 1 156,104,143 (GRCm39) missense probably damaging 0.99
R2197:Tdrd5 UTSW 1 156,087,435 (GRCm39) missense probably benign 0.02
R3820:Tdrd5 UTSW 1 156,113,053 (GRCm39) missense probably benign 0.16
R3928:Tdrd5 UTSW 1 156,128,348 (GRCm39) missense probably benign 0.06
R4258:Tdrd5 UTSW 1 156,087,312 (GRCm39) missense probably benign 0.00
R4601:Tdrd5 UTSW 1 156,111,944 (GRCm39) missense probably benign 0.12
R4602:Tdrd5 UTSW 1 156,111,944 (GRCm39) missense probably benign 0.12
R4610:Tdrd5 UTSW 1 156,111,944 (GRCm39) missense probably benign 0.12
R4611:Tdrd5 UTSW 1 156,111,944 (GRCm39) missense probably benign 0.12
R4674:Tdrd5 UTSW 1 156,105,005 (GRCm39) missense probably damaging 1.00
R4722:Tdrd5 UTSW 1 156,129,945 (GRCm39) missense probably benign 0.31
R4778:Tdrd5 UTSW 1 156,083,157 (GRCm39) missense probably damaging 0.98
R5737:Tdrd5 UTSW 1 156,128,294 (GRCm39) missense probably benign 0.01
R5881:Tdrd5 UTSW 1 156,122,070 (GRCm39) missense probably damaging 0.98
R5900:Tdrd5 UTSW 1 156,105,005 (GRCm39) nonsense probably null
R6234:Tdrd5 UTSW 1 156,120,947 (GRCm39) missense possibly damaging 0.93
R6557:Tdrd5 UTSW 1 156,128,291 (GRCm39) missense probably benign 0.10
R7068:Tdrd5 UTSW 1 156,111,841 (GRCm39) missense probably damaging 1.00
R7184:Tdrd5 UTSW 1 156,087,505 (GRCm39) missense probably benign 0.30
R7199:Tdrd5 UTSW 1 156,129,293 (GRCm39) missense probably damaging 0.98
R7432:Tdrd5 UTSW 1 156,130,002 (GRCm39) missense probably damaging 1.00
R7469:Tdrd5 UTSW 1 156,090,475 (GRCm39) missense probably benign 0.00
R8030:Tdrd5 UTSW 1 156,098,165 (GRCm39) nonsense probably null
R8323:Tdrd5 UTSW 1 156,094,832 (GRCm39) missense possibly damaging 0.63
R8680:Tdrd5 UTSW 1 156,098,788 (GRCm39) missense possibly damaging 0.49
R9282:Tdrd5 UTSW 1 156,105,030 (GRCm39) missense probably benign 0.01
X0026:Tdrd5 UTSW 1 156,112,997 (GRCm39) missense probably benign 0.01
Z1176:Tdrd5 UTSW 1 156,083,269 (GRCm39) missense probably damaging 1.00
Z1177:Tdrd5 UTSW 1 156,130,158 (GRCm39) missense probably damaging 1.00
Z1177:Tdrd5 UTSW 1 156,130,156 (GRCm39) missense possibly damaging 0.95
Z1177:Tdrd5 UTSW 1 156,083,199 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGTATAGGGGAATGCCAG -3'
(R):5'- GAGAGCAACAGTCTTTTCAGTAAC -3'

Sequencing Primer
(F):5'- TGCCAGGGCCAGAAAGC -3'
(R):5'- ACAGTCTTTTCAGTAACATGGTTTC -3'
Posted On 2015-07-21