Incidental Mutation 'IGL02932:Tdrd5'
ID 364151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdrd5
Ensembl Gene ENSMUSG00000060985
Gene Name tudor domain containing 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL02932
Quality Score
Status
Chromosome 1
Chromosomal Location 156082866-156131234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156098190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 625 (H625Q)
Ref Sequence ENSEMBL: ENSMUSP00000137182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121146] [ENSMUST00000167528]
AlphaFold Q5VCS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000121146
AA Change: H702Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: H702Q

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 noncoding transcript
Transcript: ENSMUST00000148277
Predicted Effect possibly damaging
Transcript: ENSMUST00000167528
AA Change: H625Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: H625Q

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,709 (GRCm39) E122D probably damaging Het
Asb3 G A 11: 30,979,067 (GRCm39) probably null Het
Avl9 T C 6: 56,713,536 (GRCm39) S265P probably benign Het
Cep44 C T 8: 57,000,459 (GRCm39) R18Q probably damaging Het
Clec10a T C 11: 70,060,554 (GRCm39) probably benign Het
Cog4 A G 8: 111,579,065 (GRCm39) I115V probably benign Het
Coq3 C T 4: 21,900,430 (GRCm39) A219V probably benign Het
Cry2 G A 2: 92,243,462 (GRCm39) R460* probably null Het
Ddx39b A G 17: 35,472,337 (GRCm39) probably benign Het
Dhx40 G A 11: 86,662,755 (GRCm39) R646C probably damaging Het
Ears2 G A 7: 121,662,284 (GRCm39) R55C probably damaging Het
Eif3m C T 2: 104,845,214 (GRCm39) G26R probably damaging Het
Exo5 A G 4: 120,779,742 (GRCm39) L41P probably benign Het
Fut10 A G 8: 31,749,965 (GRCm39) H417R probably damaging Het
Gars1 T A 6: 55,037,929 (GRCm39) L296Q probably damaging Het
Gpr143 A T X: 151,576,439 (GRCm39) probably benign Het
Htr1b C A 9: 81,513,689 (GRCm39) R306L probably damaging Het
Lama3 G A 18: 12,661,858 (GRCm39) A2185T probably damaging Het
Mbd5 C A 2: 49,169,460 (GRCm39) Q1544K possibly damaging Het
Mccc1 T C 3: 36,014,178 (GRCm39) E713G possibly damaging Het
Mttp A G 3: 137,817,505 (GRCm39) F415S probably benign Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Mup6 A C 4: 60,006,009 (GRCm39) D159A probably damaging Het
Nsd2 T C 5: 34,037,472 (GRCm39) L698P probably damaging Het
Or2w6 A T 13: 21,843,001 (GRCm39) M164K probably damaging Het
Or4p22 G T 2: 88,317,519 (GRCm39) V148F probably benign Het
Or5p70 A G 7: 107,994,720 (GRCm39) N131S probably benign Het
Or6c217 A T 10: 129,738,287 (GRCm39) C97* probably null Het
Osgepl1 G A 1: 53,360,675 (GRCm39) R372H probably benign Het
Pias2 C T 18: 77,232,799 (GRCm39) H537Y probably damaging Het
Slc38a7 A C 8: 96,572,783 (GRCm39) I149M probably damaging Het
Smn1 A G 13: 100,264,472 (GRCm39) T68A probably benign Het
Syde2 A G 3: 145,707,231 (GRCm39) K657R possibly damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tmem255a T A X: 37,296,940 (GRCm39) T280S probably benign Het
Ttpa A G 4: 20,021,215 (GRCm39) T128A possibly damaging Het
Wdhd1 A G 14: 47,509,591 (GRCm39) probably null 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
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
R4502:Tdrd5 UTSW 1 156,128,334 (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
Posted On 2015-12-18