Incidental Mutation 'R4168:Dmap1'
ID 320649
Institutional Source Beutler Lab
Gene Symbol Dmap1
Ensembl Gene ENSMUSG00000009640
Gene Name DNA methyltransferase 1-associated protein 1
Synonyms 1500016M21Rik
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 117531878-117539450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117538507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 54 (H54L)
Ref Sequence ENSEMBL: ENSMUSP00000099748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102687]
AlphaFold Q9JI44
Predicted Effect possibly damaging
Transcript: ENSMUST00000102687
AA Change: H54L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099748
Gene: ENSMUSG00000009640
AA Change: H54L

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
SANT 148 201 3.38e-2 SMART
Pfam:DMAP1 243 404 7.1e-76 PFAM
low complexity region 449 467 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135582
Meta Mutation Damage Score 0.2412 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation with no 8-cell embryos detected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Kif27 A G 13: 58,493,562 (GRCm39) I127T probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zc2hc1a A G 3: 7,583,451 (GRCm39) T41A probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly damaging Het
Other mutations in Dmap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Dmap1 APN 4 117,533,593 (GRCm39) missense possibly damaging 0.67
IGL01517:Dmap1 APN 4 117,533,206 (GRCm39) missense probably damaging 1.00
IGL02926:Dmap1 APN 4 117,539,085 (GRCm39) missense probably benign 0.01
R0118:Dmap1 UTSW 4 117,533,680 (GRCm39) missense probably damaging 1.00
R1586:Dmap1 UTSW 4 117,533,319 (GRCm39) missense probably damaging 0.98
R2504:Dmap1 UTSW 4 117,532,495 (GRCm39) missense probably damaging 1.00
R2940:Dmap1 UTSW 4 117,533,202 (GRCm39) missense possibly damaging 0.72
R4723:Dmap1 UTSW 4 117,533,236 (GRCm39) missense probably benign 0.05
R4975:Dmap1 UTSW 4 117,538,233 (GRCm39) missense possibly damaging 0.91
R5797:Dmap1 UTSW 4 117,532,677 (GRCm39) missense possibly damaging 0.94
R5905:Dmap1 UTSW 4 117,533,963 (GRCm39) missense probably benign 0.00
R5987:Dmap1 UTSW 4 117,538,039 (GRCm39) critical splice donor site probably null
R6117:Dmap1 UTSW 4 117,532,732 (GRCm39) splice site probably null
R9484:Dmap1 UTSW 4 117,533,308 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCTCAGTCTACCCCAGAATAAGG -3'
(R):5'- TGTAGAGACGCTCCCATGAG -3'

Sequencing Primer
(F):5'- TCATGTCCTGGAGCAAGACACTG -3'
(R):5'- ATGAGTGGGTTCCCGGGAC -3'
Posted On 2015-06-12