Incidental Mutation 'IGL00159:Dydc1'
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ID306565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dydc1
Ensembl Gene ENSMUSG00000021790
Gene NameDPY30 domain containing 1
Synonyms1700029M23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL00159
Quality Score
Status
Chromosome14
Chromosomal Location41072911-41092197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41087413 bp
ZygosityHeterozygous
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]
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
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Dydc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03201:Dydc1 APN 14 41078690 missense probably damaging 1.00
R4972:Dydc1 UTSW 14 41082338 missense probably benign 0.06
R5331:Dydc1 UTSW 14 41082363 critical splice donor site probably null
R7187:Dydc1 UTSW 14 41078094 missense possibly damaging 0.73
Posted On2015-04-16