Incidental Mutation 'R7187:Dydc1'
ID 559382
Institutional Source Beutler Lab
Gene Symbol Dydc1
Ensembl Gene ENSMUSG00000021790
Gene Name DPY30 domain containing 1
Synonyms 1700029M23Rik
MMRRC Submission 045377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7187 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 40794868-40814154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40800051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 19 (T19I)
Ref Sequence ENSEMBL: ENSMUSP00000139412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022315] [ENSMUST00000161837] [ENSMUST00000189865]
AlphaFold Q9D9T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022315
AA Change: T19I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022315
Gene: ENSMUSG00000021790
AA Change: T19I

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 benign
Transcript: ENSMUST00000161837
AA Change: T19I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124785
Gene: ENSMUSG00000021790
AA Change: T19I

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 possibly damaging
Transcript: ENSMUST00000189865
AA Change: T19I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139412
Gene: ENSMUSG00000021790
AA Change: T19I

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,327,733 (GRCm39) Y716C probably damaging Het
Abcc1 A G 16: 14,284,861 (GRCm39) I1237V probably benign Het
Adam34 C T 8: 44,105,565 (GRCm39) A27T probably benign Het
Aff3 T C 1: 38,257,478 (GRCm39) S415G probably damaging Het
Ak7 T C 12: 105,711,532 (GRCm39) Y390H probably benign Het
Arap2 A C 5: 62,826,396 (GRCm39) M1056R probably damaging Het
Brf1 T C 12: 112,923,945 (GRCm39) Y676C unknown Het
Cachd1 T A 4: 100,833,552 (GRCm39) H776Q possibly damaging Het
Cacng7 T C 7: 3,385,183 (GRCm39) V28A probably damaging Het
Camk2g A T 14: 20,792,780 (GRCm39) D359E probably benign Het
Cd209b T C 8: 3,976,638 (GRCm39) D16G probably benign Het
Ceacam5 A G 7: 17,493,410 (GRCm39) E811G possibly damaging Het
Cecr2 T A 6: 120,733,647 (GRCm39) S545T probably benign Het
Cep55 T C 19: 38,048,806 (GRCm39) probably null Het
Ctif C A 18: 75,770,290 (GRCm39) V32L probably damaging Het
Cwc27 G A 13: 104,797,900 (GRCm39) A353V probably benign Het
Dclk3 T A 9: 111,314,064 (GRCm39) S713R probably damaging Het
Dlec1 C T 9: 118,941,214 (GRCm39) H255Y probably benign Het
Dlgap1 A G 17: 70,823,093 (GRCm39) H26R possibly damaging Het
Efcab12 G A 6: 115,800,474 (GRCm39) P183L not run Het
Eif1ad19 T C 12: 87,740,708 (GRCm39) probably benign Het
Eri3 C A 4: 117,446,343 (GRCm39) Q219K probably benign Het
Fam135a A G 1: 24,083,295 (GRCm39) L310P probably damaging Het
Fgd5 T A 6: 91,965,272 (GRCm39) S502T possibly damaging Het
Fgf8 A G 19: 45,730,106 (GRCm39) S57P probably benign Het
Gls T C 1: 52,259,139 (GRCm39) E154G probably damaging Het
Gm28042 T C 2: 119,870,176 (GRCm39) L705P probably damaging Het
Golgb1 C A 16: 36,736,512 (GRCm39) Q1961K probably benign Het
Herc3 C A 6: 58,833,616 (GRCm39) Q168K probably benign Het
Il31ra C A 13: 112,682,845 (GRCm39) C168F probably benign Het
Ino80 A T 2: 119,257,072 (GRCm39) D860E probably benign Het
Iqcm T G 8: 76,480,044 (GRCm39) L334R probably benign Het
Lrrk2 A G 15: 91,641,204 (GRCm39) D1587G possibly damaging Het
Map4 T A 9: 109,882,201 (GRCm39) V355E probably benign Het
Mapk13 T A 17: 28,995,361 (GRCm39) I194N probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Naglu G T 11: 100,961,158 (GRCm39) G70W probably benign Het
Nlrp4f A T 13: 65,343,201 (GRCm39) M126K possibly damaging Het
Or4c120 T C 2: 89,001,714 (GRCm39) probably benign Het
Or5p61 A T 7: 107,758,585 (GRCm39) V165E probably benign Het
Pdia4 T C 6: 47,790,193 (GRCm39) T16A unknown Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Ripor1 A G 8: 106,344,506 (GRCm39) T547A probably benign Het
Rundc3b A G 5: 8,542,506 (GRCm39) S389P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,110,054 (GRCm39) S484P probably benign Het
Supv3l1 G A 10: 62,271,328 (GRCm39) T403I probably damaging Het
Tacstd2 G A 6: 67,512,180 (GRCm39) R171W probably damaging Het
Taok2 A T 7: 126,471,552 (GRCm39) F542L probably damaging Het
Tbc1d31 T A 15: 57,801,459 (GRCm39) N331K possibly damaging Het
Tff2 A T 17: 31,361,200 (GRCm39) C118S probably damaging Het
Tmprss7 G A 16: 45,498,317 (GRCm39) T354I possibly damaging Het
Tmtc3 A T 10: 100,313,774 (GRCm39) F33I probably damaging Het
Tpbpa G A 13: 61,088,399 (GRCm39) probably benign Het
Ube3a G T 7: 58,925,653 (GRCm39) V165F probably benign Het
Vmn2r4 T G 3: 64,322,681 (GRCm39) T13P probably benign Het
Wnt8b A G 19: 44,500,121 (GRCm39) D236G probably benign Het
Ythdf3 C A 3: 16,258,451 (GRCm39) D210E probably benign Het
Zfp110 T A 7: 12,583,753 (GRCm39) Y800* probably null Het
Other mutations in Dydc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Dydc1 APN 14 40,809,370 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTCAGAGATCTACCTGCCTCTG -3'
(R):5'- CACTATTCAACAGTTTGGGAGAG -3'

Sequencing Primer
(F):5'- CTGTCTCTCTAGTGCTGGGATTAAAG -3'
(R):5'- ATTCAACAGTTTGGGAGAGTTTTAG -3'
Posted On 2019-06-26