Incidental Mutation 'IGL00159:Dydc1'
ID 306565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dydc1
Ensembl Gene ENSMUSG00000021790
Gene Name DPY30 domain containing 1
Synonyms 1700029M23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL00159
Quality Score
Status
Chromosome 14
Chromosomal Location 40794868-40814154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40809370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 143 (L143P)
Ref Sequence ENSEMBL: ENSMUSP00000139412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022315] [ENSMUST00000161837] [ENSMUST00000189865]
AlphaFold Q9D9T0
Predicted Effect probably damaging
Transcript: ENSMUST00000022315
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022315
Gene: ENSMUSG00000021790
AA Change: L143P

DomainStartEndE-ValueType
Pfam:Dpy-30 1 42 9.9e-23 PFAM
coiled coil region 52 78 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161837
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124785
Gene: ENSMUSG00000021790
AA Change: L143P

DomainStartEndE-ValueType
Pfam:Dpy-30 1 42 7.6e-23 PFAM
coiled coil region 52 78 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189865
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139412
Gene: ENSMUSG00000021790
AA Change: L143P

DomainStartEndE-ValueType
Pfam:Dpy-30 1 42 9.9e-23 PFAM
coiled coil region 52 78 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
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 encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Axin1 A T 17: 26,361,779 (GRCm39) D41V possibly damaging Het
BC034090 C A 1: 155,101,197 (GRCm39) E718* probably null Het
Cdc123 G T 2: 5,809,746 (GRCm39) Q222K probably benign Het
Clip1 A C 5: 123,741,717 (GRCm39) V1053G possibly damaging Het
Dock7 T A 4: 98,952,222 (GRCm39) E416V probably damaging Het
Dync2h1 A G 9: 7,158,839 (GRCm39) V732A probably benign Het
Dzip1l T A 9: 99,519,830 (GRCm39) L119Q probably damaging Het
Erp27 T A 6: 136,886,500 (GRCm39) S178C probably damaging Het
Fbn1 A G 2: 125,239,793 (GRCm39) V298A probably benign Het
Fbxo34 A G 14: 47,766,931 (GRCm39) H97R probably damaging Het
Gm20521 C T 14: 55,122,079 (GRCm39) Q81* probably null Het
Gspt1 T C 16: 11,040,476 (GRCm39) M610V probably damaging Het
Herc1 A G 9: 66,344,964 (GRCm39) Q1919R possibly damaging Het
Il19 A G 1: 130,862,792 (GRCm39) probably benign Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lrrk2 A G 15: 91,632,002 (GRCm39) K1309E possibly damaging Het
Lurap1 T C 4: 115,994,887 (GRCm39) T115A probably damaging Het
Myo18b G T 5: 113,021,997 (GRCm39) T465K probably benign Het
Nwd1 A T 8: 73,397,705 (GRCm39) D648V probably damaging Het
Or13c25 T G 4: 52,911,618 (GRCm39) M59L possibly damaging Het
Or2at4 G A 7: 99,384,524 (GRCm39) R58H probably benign Het
Otof T C 5: 30,533,248 (GRCm39) Y1527C probably damaging Het
Otop3 G A 11: 115,235,223 (GRCm39) C285Y probably damaging Het
Parp3 A G 9: 106,348,586 (GRCm39) I478T probably benign Het
Pdzd2 C T 15: 12,458,069 (GRCm39) E265K possibly damaging Het
Pik3c2g T C 6: 139,841,851 (GRCm39) L634P probably damaging Het
Prkg1 C A 19: 31,279,740 (GRCm39) V165L probably benign Het
Riok3 A G 18: 12,281,948 (GRCm39) I306V possibly damaging Het
Ror2 T C 13: 53,267,118 (GRCm39) D439G probably benign Het
Scn2a T A 2: 65,573,434 (GRCm39) I1428N probably damaging Het
Sgcg C T 14: 61,469,924 (GRCm39) D146N probably benign Het
Skic3 T C 13: 76,291,397 (GRCm39) probably null Het
Slc16a9 A G 10: 70,118,529 (GRCm39) R283G probably benign Het
Sptb T C 12: 76,668,105 (GRCm39) D664G probably benign Het
Tmprss3 T A 17: 31,413,982 (GRCm39) D54V probably damaging Het
Tubd1 G T 11: 86,456,555 (GRCm39) V374F probably benign Het
Vmn2r57 A T 7: 41,078,209 (GRCm39) M83K probably benign Het
Vps13c A G 9: 67,853,281 (GRCm39) E2458G probably benign Het
Vps35l G A 7: 118,396,270 (GRCm39) probably null Het
Zhx2 A T 15: 57,686,266 (GRCm39) E545V probably damaging Het
Other mutations in Dydc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03201:Dydc1 APN 14 40,800,647 (GRCm39) missense probably damaging 1.00
R4972:Dydc1 UTSW 14 40,804,295 (GRCm39) missense probably benign 0.06
R5331:Dydc1 UTSW 14 40,804,320 (GRCm39) critical splice donor site probably null
R7187:Dydc1 UTSW 14 40,800,051 (GRCm39) missense possibly damaging 0.73
R9180:Dydc1 UTSW 14 40,800,054 (GRCm39) missense probably damaging 1.00
R9772:Dydc1 UTSW 14 40,804,248 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16