Incidental Mutation 'IGL02926:Dmap1'
ID 363891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmap1
Ensembl Gene ENSMUSG00000009640
Gene Name DNA methyltransferase 1-associated protein 1
Synonyms 1500016M21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02926
Quality Score
Status
Chromosome 4
Chromosomal Location 117531878-117539450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117539085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 17 (E17V)
Ref Sequence ENSEMBL: ENSMUSP00000099748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102687]
AlphaFold Q9JI44
Predicted Effect probably benign
Transcript: ENSMUST00000102687
AA Change: E17V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099748
Gene: ENSMUSG00000009640
AA Change: E17V

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
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably 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
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
R4168:Dmap1 UTSW 4 117,538,507 (GRCm39) missense possibly damaging 0.91
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
Posted On 2015-12-18