Incidental Mutation 'R8528:Dpy30'
ID 658911
Institutional Source Beutler Lab
Gene Symbol Dpy30
Ensembl Gene ENSMUSG00000024067
Gene Name dpy-30, histone methyltransferase complex regulatory subunit
Synonyms 2810410M20Rik
MMRRC Submission 068498-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8528 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 74606469-74630939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74606757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000126702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078459] [ENSMUST00000112571] [ENSMUST00000164832]
AlphaFold Q99LT0
Predicted Effect probably benign
Transcript: ENSMUST00000078459
SMART Domains Protein: ENSMUSP00000077553
Gene: ENSMUSG00000058704

DomainStartEndE-ValueType
Pfam:Memo 9 293 3.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112571
AA Change: D97G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108190
Gene: ENSMUSG00000024067
AA Change: D97G

DomainStartEndE-ValueType
Pfam:Dpy-30 52 93 7.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164832
AA Change: D97G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126702
Gene: ENSMUSG00000024067
AA Change: D97G

DomainStartEndE-ValueType
Pfam:Dpy-30 52 93 7.7e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele die between E7.5 and E9.5 exhibiting abnormal post-implantation development associated with absence of the primitive streak and impaired gastrulation of the pluripotent epiblast. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A C 15: 74,447,700 (GRCm39) I169L possibly damaging Het
Ahnak A T 19: 8,985,092 (GRCm39) K2125N probably damaging Het
Arl5b T A 2: 15,078,138 (GRCm39) probably null Het
Ccng2 T C 5: 93,417,164 (GRCm39) V60A possibly damaging Het
Cfap65 A G 1: 74,945,096 (GRCm39) V1442A possibly damaging Het
Cyp1b1 T A 17: 80,017,993 (GRCm39) E387D probably damaging Het
Dchs2 T C 3: 83,261,918 (GRCm39) S2729P probably damaging Het
Dnah11 A G 12: 117,972,538 (GRCm39) F2882S probably damaging Het
Enam T A 5: 88,650,078 (GRCm39) V454E probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Ero1b T A 13: 12,614,757 (GRCm39) C240* probably null Het
Exog A G 9: 119,291,686 (GRCm39) D297G probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fer1l5 A G 1: 36,456,855 (GRCm39) Y1611C possibly damaging Het
Firrm T C 1: 163,813,652 (GRCm39) K191E probably damaging Het
Frmpd1 T C 4: 45,285,034 (GRCm39) V1285A probably benign Het
Gfpt1 G C 6: 87,043,770 (GRCm39) probably null Het
Gm15446 T C 5: 110,090,896 (GRCm39) Y383H possibly damaging Het
Gsdmc A T 15: 63,649,189 (GRCm39) probably null Het
Hao1 A G 2: 134,364,913 (GRCm39) I238T probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kcnv2 T A 19: 27,300,387 (GRCm39) D79E probably benign Het
Lrrc8a T C 2: 30,145,557 (GRCm39) Y124H probably damaging Het
Lrrc8d T A 5: 105,960,352 (GRCm39) M254K probably benign Het
Map3k4 T C 17: 12,451,821 (GRCm39) N1489S probably damaging Het
Mapk8ip2 A G 15: 89,339,422 (GRCm39) D34G probably damaging Het
Myo9a A G 9: 59,767,423 (GRCm39) T876A probably damaging Het
Pabpc2 C T 18: 39,908,439 (GRCm39) T568I probably benign Het
Pcdhga2 G T 18: 37,802,221 (GRCm39) A22S probably benign Het
Rc3h2 G A 2: 37,272,811 (GRCm39) T755I probably benign Het
Sertad4 A G 1: 192,533,391 (GRCm39) V15A probably benign Het
Slc28a2 A G 2: 122,286,223 (GRCm39) K520E probably damaging Het
Slc4a10 T C 2: 62,127,140 (GRCm39) V831A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spag17 A T 3: 100,031,501 (GRCm39) I2255F possibly damaging Het
Sprn C T 7: 139,733,423 (GRCm39) probably benign Het
Stim1 T C 7: 102,080,289 (GRCm39) probably benign Het
Stk24 C A 14: 121,529,447 (GRCm39) A402S probably benign Het
Sycp2 A G 2: 178,016,326 (GRCm39) L712P probably damaging Het
Tenm3 C T 8: 48,795,668 (GRCm39) G269S probably damaging Het
Zdbf2 A G 1: 63,342,545 (GRCm39) E308G possibly damaging Het
Zfp442 A C 2: 150,250,962 (GRCm39) H312Q probably damaging Het
Other mutations in Dpy30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Dpy30 APN 17 74,614,749 (GRCm39) missense probably damaging 1.00
R5550:Dpy30 UTSW 17 74,622,920 (GRCm39) missense probably benign 0.00
R5915:Dpy30 UTSW 17 74,622,906 (GRCm39) missense probably benign
R6798:Dpy30 UTSW 17 74,614,751 (GRCm39) missense probably damaging 1.00
R7054:Dpy30 UTSW 17 74,614,835 (GRCm39) missense probably benign
R8124:Dpy30 UTSW 17 74,623,099 (GRCm39) start gained probably benign
R8553:Dpy30 UTSW 17 74,622,913 (GRCm39) missense probably damaging 0.99
RF008:Dpy30 UTSW 17 74,622,902 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GATTAAATCAGACAGGGATATGCTCTC -3'
(R):5'- AATTTTGGCTCCTTAGATTGCC -3'

Sequencing Primer
(F):5'- ATCAGACAGGGATATGCTCTCTTCTG -3'
(R):5'- TGAATAGCCTTTCACTGTGAAATG -3'
Posted On 2021-01-18