Incidental Mutation 'IGL00786:Dmap1'
ID13418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmap1
Ensembl Gene ENSMUSG00000009640
Gene NameDNA methyltransferase 1-associated protein 1
Synonyms1500016M21Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome4
Chromosomal Location117674681-117682273 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117676396 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 225 (R225Q)
Ref Sequence ENSEMBL: ENSMUSP00000099748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000102687]
Predicted Effect probably benign
Transcript: ENSMUST00000037127
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
EXOIII 145 329 1.17e-42 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102687
AA Change: R225Q

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099748
Gene: ENSMUSG00000009640
AA Change: R225Q

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: ENSMUST00000129510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146384
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Dmap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Dmap1 APN 4 117676009 missense probably damaging 1.00
IGL02926:Dmap1 APN 4 117681888 missense probably benign 0.01
R0118:Dmap1 UTSW 4 117676483 missense probably damaging 1.00
R1586:Dmap1 UTSW 4 117676122 missense probably damaging 0.98
R2504:Dmap1 UTSW 4 117675298 missense probably damaging 1.00
R2940:Dmap1 UTSW 4 117676005 missense possibly damaging 0.72
R4168:Dmap1 UTSW 4 117681310 missense possibly damaging 0.91
R4723:Dmap1 UTSW 4 117676039 missense probably benign 0.05
R4975:Dmap1 UTSW 4 117681036 missense possibly damaging 0.91
R5797:Dmap1 UTSW 4 117675480 missense possibly damaging 0.94
R5905:Dmap1 UTSW 4 117676766 missense probably benign 0.00
R5987:Dmap1 UTSW 4 117680842 critical splice donor site probably null
R6117:Dmap1 UTSW 4 117675535 splice site probably null
Posted On2012-12-06