Incidental Mutation 'R2504:Dmap1'
ID 252115
Institutional Source Beutler Lab
Gene Symbol Dmap1
Ensembl Gene ENSMUSG00000009640
Gene Name DNA methyltransferase 1-associated protein 1
Synonyms 1500016M21Rik
MMRRC Submission 040412-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2504 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 117674681-117682273 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 117675298 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 357 (T357K)
Ref Sequence ENSEMBL: ENSMUSP00000099748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000102687]
AlphaFold Q9JI44
Predicted Effect probably benign
Transcript: ENSMUST00000037127
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423

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 probably damaging
Transcript: ENSMUST00000102687
AA Change: T357K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099748
Gene: ENSMUSG00000009640
AA Change: T357K

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: ENSMUST00000129510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146384
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,219,216 (GRCm38) E1750K probably damaging Het
4933425L06Rik A G 13: 105,109,742 (GRCm38) I270M probably benign Het
Aatk T C 11: 120,018,855 (GRCm38) D28G probably benign Het
Abcg1 T A 17: 31,092,395 (GRCm38) S125T probably damaging Het
Actbl2 T C 13: 111,256,183 (GRCm38) S351P possibly damaging Het
Ankrd34b A G 13: 92,439,061 (GRCm38) probably null Het
BC030867 T C 11: 102,255,296 (GRCm38) Y133H possibly damaging Het
BC051665 C T 13: 60,782,654 (GRCm38) V295I probably benign Het
C1qtnf2 A G 11: 43,491,156 (GRCm38) N265S probably damaging Het
Ccdc14 C T 16: 34,721,850 (GRCm38) R573* probably null Het
Cd55b A T 1: 130,409,875 (GRCm38) Y247N probably damaging Het
Celsr2 A T 3: 108,413,591 (GRCm38) V635E probably benign Het
Clec16a T C 16: 10,559,687 (GRCm38) probably benign Het
Clec4b1 A G 6: 123,065,945 (GRCm38) Y41C probably damaging Het
Cntn5 A T 9: 10,172,121 (GRCm38) D19E probably benign Het
Cop1 A G 1: 159,232,805 (GRCm38) N53S probably damaging Het
Csad A T 15: 102,188,667 (GRCm38) M1K probably null Het
Cyb5rl A G 4: 107,080,945 (GRCm38) I200V probably benign Het
Cyp26a1 A G 19: 37,698,342 (GRCm38) T81A probably damaging Het
Cyp2d12 A T 15: 82,559,036 (GRCm38) H433L probably benign Het
D7Ertd443e T A 7: 134,349,479 (GRCm38) probably null Het
Dennd1b A G 1: 139,170,170 (GRCm38) probably benign Het
Dzip1 G T 14: 118,881,044 (GRCm38) T759K probably benign Het
Elmo2 A G 2: 165,298,687 (GRCm38) V300A probably damaging Het
Eml5 T C 12: 98,844,105 (GRCm38) D864G possibly damaging Het
Ep400 A G 5: 110,668,645 (GRCm38) V2670A probably damaging Het
Epha3 T A 16: 63,603,625 (GRCm38) I534F probably damaging Het
Epha4 A C 1: 77,382,991 (GRCm38) Y742D probably damaging Het
Ergic2 A G 6: 148,204,774 (GRCm38) probably null Het
Ero1l A T 14: 45,299,088 (GRCm38) probably null Het
Fam229a A G 4: 129,491,486 (GRCm38) D70G probably damaging Het
Fbn2 C T 18: 58,093,359 (GRCm38) R781Q probably damaging Het
Fbxo16 A T 14: 65,270,714 (GRCm38) probably benign Het
Fbxo39 T A 11: 72,317,285 (GRCm38) S154R probably benign Het
Fer T A 17: 63,991,580 (GRCm38) probably null Het
Filip1l A T 16: 57,571,047 (GRCm38) D428V probably damaging Het
Filip1l A G 16: 57,570,662 (GRCm38) I538V possibly damaging Het
Fsip2 T C 2: 82,979,610 (GRCm38) I2091T possibly damaging Het
Glyat A C 19: 12,651,398 (GRCm38) T186P possibly damaging Het
Gm10604 A G 4: 11,980,083 (GRCm38) S74P unknown Het
Gm4787 T G 12: 81,379,137 (GRCm38) K82N possibly damaging Het
Hectd4 T C 5: 121,220,620 (GRCm38) I50T unknown Het
Hectd4 T C 5: 121,263,967 (GRCm38) S373P possibly damaging Het
Hmcn1 A T 1: 150,686,867 (GRCm38) C2313* probably null Het
Igfn1 A T 1: 135,969,316 (GRCm38) S1171T probably benign Het
Ints8 T C 4: 11,241,642 (GRCm38) D267G probably benign Het
Itln1 A G 1: 171,529,159 (GRCm38) C251R probably damaging Het
Jcad C T 18: 4,674,026 (GRCm38) T596M probably damaging Het
Kcnj16 C T 11: 111,025,583 (GRCm38) T357M probably benign Het
Kif13a G A 13: 46,814,200 (GRCm38) T346M probably damaging Het
Klhl24 G A 16: 20,120,167 (GRCm38) A491T probably benign Het
Kntc1 C T 5: 123,778,347 (GRCm38) Q748* probably null Het
Krt25 T A 11: 99,317,296 (GRCm38) K369* probably null Het
Krt75 C T 15: 101,568,031 (GRCm38) R433Q probably benign Het
Krt76 A G 15: 101,884,858 (GRCm38) F582L unknown Het
Lysmd1 G A 3: 95,138,397 (GRCm38) V182I probably benign Het
Mab21l2 T A 3: 86,547,555 (GRCm38) E46V probably damaging Het
Magi2 A T 5: 20,358,936 (GRCm38) K355N probably damaging Het
March10 T C 11: 105,385,572 (GRCm38) D630G probably damaging Het
Mast4 A T 13: 102,738,639 (GRCm38) I1215N probably damaging Het
Nckap1 G A 2: 80,530,218 (GRCm38) T523I probably benign Het
Nexmif T A X: 104,084,393 (GRCm38) D1306V probably damaging Het
Nfkb1 A C 3: 135,589,329 (GRCm38) I918R possibly damaging Het
Nup50 A T 15: 84,933,658 (GRCm38) T93S probably benign Het
Nwd2 T C 5: 63,804,374 (GRCm38) Y434H probably benign Het
Olfr61 T C 7: 140,638,484 (GRCm38) V261A probably benign Het
Osbpl1a C A 18: 12,905,031 (GRCm38) V288L probably benign Het
Pan3 A G 5: 147,527,036 (GRCm38) E562G possibly damaging Het
Pappa T A 4: 65,180,889 (GRCm38) Y548* probably null Het
Phf3 A T 1: 30,810,789 (GRCm38) L1181Q probably damaging Het
Phip T C 9: 82,915,339 (GRCm38) H537R possibly damaging Het
Pkhd1l1 T C 15: 44,485,428 (GRCm38) I240T probably damaging Het
Pole G A 5: 110,290,502 (GRCm38) probably null Het
Polq T A 16: 37,011,942 (GRCm38) S15T unknown Het
Prrt2 T C 7: 127,020,224 (GRCm38) E23G possibly damaging Het
Prss37 A T 6: 40,517,826 (GRCm38) probably null Het
Prune2 T C 19: 17,000,036 (GRCm38) L45P probably damaging Het
Psd A T 19: 46,324,913 (GRCm38) M6K possibly damaging Het
Psmd1 A G 1: 86,089,997 (GRCm38) E510G possibly damaging Het
Ptch1 T G 13: 63,524,959 (GRCm38) E944A probably benign Het
Pxdn T A 12: 30,003,406 (GRCm38) I1194N probably damaging Het
Rbp3 C T 14: 33,956,018 (GRCm38) T641M probably damaging Het
Rgmb C A 17: 15,807,647 (GRCm38) R270L probably benign Het
Rpgrip1l A G 8: 91,280,716 (GRCm38) probably null Het
Rps2 G A 17: 24,720,379 (GRCm38) probably benign Het
Rsbn1l G T 5: 20,902,366 (GRCm38) A550E probably damaging Het
S1pr4 C T 10: 81,499,304 (GRCm38) R112H probably benign Het
Scfd2 T C 5: 74,531,177 (GRCm38) N148S probably damaging Het
Scin C T 12: 40,081,706 (GRCm38) M276I probably benign Het
Sec24d T C 3: 123,353,606 (GRCm38) I708T possibly damaging Het
Skint11 T A 4: 114,228,812 (GRCm38) F41I possibly damaging Het
Slc15a4 A T 5: 127,617,239 (GRCm38) F44Y possibly damaging Het
Slc6a18 A G 13: 73,675,806 (GRCm38) Y72H probably benign Het
Slc7a11 A T 3: 50,377,746 (GRCm38) probably null Het
Slc7a14 G T 3: 31,237,501 (GRCm38) N209K possibly damaging Het
Sstr2 T C 11: 113,624,431 (GRCm38) C59R probably damaging Het
Stab1 A G 14: 31,163,040 (GRCm38) probably null Het
Stag1 G T 9: 100,866,210 (GRCm38) S475I probably damaging Het
Stxbp5l A G 16: 37,115,667 (GRCm38) Y1183H probably damaging Het
Svep1 A T 4: 58,135,628 (GRCm38) probably null Het
Tm9sf2 A G 14: 122,158,684 (GRCm38) T653A probably benign Het
Tmeff1 T C 4: 48,662,059 (GRCm38) S366P possibly damaging Het
Tnnt2 G T 1: 135,852,065 (GRCm38) W300L probably damaging Het
Traj32 A G 14: 54,186,103 (GRCm38) probably benign Het
Trp53bp2 A T 1: 182,441,639 (GRCm38) M223L probably benign Het
Tsga10 G A 1: 37,815,677 (GRCm38) T246M probably damaging Het
Txn2 A T 15: 77,926,670 (GRCm38) probably benign Het
Ubr3 T A 2: 69,938,198 (GRCm38) F450I probably damaging Het
Usp47 T C 7: 112,104,470 (GRCm38) probably null Het
Vars2 C T 17: 35,664,793 (GRCm38) R244Q probably damaging Het
Xrra1 T A 7: 99,897,596 (GRCm38) F251L probably damaging Het
Zfp804a G A 2: 82,257,519 (GRCm38) R564Q probably benign Het
Zfp983 T C 17: 21,658,967 (GRCm38) C29R probably damaging Het
Other mutations in Dmap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Dmap1 APN 4 117,676,396 (GRCm38) missense possibly damaging 0.67
IGL01517:Dmap1 APN 4 117,676,009 (GRCm38) missense probably damaging 1.00
IGL02926:Dmap1 APN 4 117,681,888 (GRCm38) missense probably benign 0.01
R0118:Dmap1 UTSW 4 117,676,483 (GRCm38) missense probably damaging 1.00
R1586:Dmap1 UTSW 4 117,676,122 (GRCm38) missense probably damaging 0.98
R2940:Dmap1 UTSW 4 117,676,005 (GRCm38) missense possibly damaging 0.72
R4168:Dmap1 UTSW 4 117,681,310 (GRCm38) missense possibly damaging 0.91
R4723:Dmap1 UTSW 4 117,676,039 (GRCm38) missense probably benign 0.05
R4975:Dmap1 UTSW 4 117,681,036 (GRCm38) missense possibly damaging 0.91
R5797:Dmap1 UTSW 4 117,675,480 (GRCm38) missense possibly damaging 0.94
R5905:Dmap1 UTSW 4 117,676,766 (GRCm38) missense probably benign 0.00
R5987:Dmap1 UTSW 4 117,680,842 (GRCm38) critical splice donor site probably null
R6117:Dmap1 UTSW 4 117,675,535 (GRCm38) splice site probably null
R9484:Dmap1 UTSW 4 117,676,111 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04