Incidental Mutation 'R0105:Mcm3ap'
ID 33274
Institutional Source Beutler Lab
Gene Symbol Mcm3ap
Ensembl Gene ENSMUSG00000001150
Gene Name minichromosome maintenance complex component 3 associated protein
Synonyms GANP
MMRRC Submission 038391-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0105 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 76304761-76351691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76335368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1263 (D1263E)
Ref Sequence ENSEMBL: ENSMUSP00000125960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170795]
AlphaFold Q9WUU9
Predicted Effect probably damaging
Transcript: ENSMUST00000170795
AA Change: D1263E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: D1263E

DomainStartEndE-ValueType
Pfam:NupH_GANP 2 286 3.3e-108 PFAM
low complexity region 389 403 N/A INTRINSIC
Blast:RRM 430 504 5e-39 BLAST
SCOP:d1fjeb2 434 500 6e-4 SMART
low complexity region 544 559 N/A INTRINSIC
low complexity region 570 586 N/A INTRINSIC
Pfam:SAC3_GANP 677 903 1.7e-82 PFAM
low complexity region 997 1008 N/A INTRINSIC
low complexity region 1024 1035 N/A INTRINSIC
low complexity region 1039 1053 N/A INTRINSIC
low complexity region 1091 1110 N/A INTRINSIC
low complexity region 1133 1155 N/A INTRINSIC
Pfam:CID_GANP 1156 1226 1.6e-33 PFAM
Pfam:MCM3AP_GANP 1254 1967 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219811
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele die by E12. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik G A 6: 133,271,277 (GRCm39) R107K probably benign Het
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Adcy9 A G 16: 4,106,252 (GRCm39) V954A probably damaging Het
Aldh8a1 T A 10: 21,271,438 (GRCm39) M388K probably damaging Het
Ankhd1 A G 18: 36,779,819 (GRCm39) I1720M probably damaging Het
Atp6v0a4 T C 6: 38,030,064 (GRCm39) probably benign Het
C1qtnf4 T A 2: 90,720,707 (GRCm39) *327R probably null Het
C1s1 T C 6: 124,518,277 (GRCm39) probably benign Het
Cdsn A C 17: 35,867,035 (GRCm39) R521S possibly damaging Het
Cgnl1 T C 9: 71,563,384 (GRCm39) M848V probably benign Het
Cog3 A G 14: 75,959,580 (GRCm39) S591P probably damaging Het
Col6a3 A G 1: 90,725,883 (GRCm39) V1375A possibly damaging Het
Cplane1 T A 15: 8,216,876 (GRCm39) V698D probably benign Het
Cr1l A G 1: 194,794,720 (GRCm39) probably benign Het
Crmp1 T A 5: 37,441,479 (GRCm39) D520E probably damaging Het
Ctdspl2 T A 2: 121,807,801 (GRCm39) probably benign Het
Dnah6 C T 6: 73,132,262 (GRCm39) A1147T probably damaging Het
Dsg2 T C 18: 20,735,111 (GRCm39) S1030P probably benign Het
Elavl3 C A 9: 21,948,129 (GRCm39) V12F possibly damaging Het
Fam20b T C 1: 156,518,140 (GRCm39) E218G probably damaging Het
Fam227a T C 15: 79,505,033 (GRCm39) D466G possibly damaging Het
Fto G A 8: 92,249,430 (GRCm39) E421K probably damaging Het
Gab2 T C 7: 96,948,279 (GRCm39) Y290H probably damaging Het
Gm973 A G 1: 59,621,633 (GRCm39) Q591R probably null Het
Gsdmc2 T C 15: 63,700,026 (GRCm39) T249A probably benign Het
Il15ra T A 2: 11,735,459 (GRCm39) probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Il6ra A G 3: 89,784,125 (GRCm39) I382T probably damaging Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Krt76 T C 15: 101,793,347 (GRCm39) T564A unknown Het
Lhpp T C 7: 132,232,254 (GRCm39) S57P probably damaging Het
Lrrk1 G T 7: 65,942,089 (GRCm39) D716E probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mroh7 T C 4: 106,568,467 (GRCm39) T48A possibly damaging Het
Nccrp1 T C 7: 28,246,463 (GRCm39) D33G probably benign Het
Neurog1 G T 13: 56,399,050 (GRCm39) D232E probably benign Het
Or4a71 T C 2: 89,358,707 (GRCm39) T16A probably benign Het
Or4c105 T A 2: 88,648,253 (GRCm39) V246D probably damaging Het
Otog C A 7: 45,937,790 (GRCm39) T1833K possibly damaging Het
Perm1 C A 4: 156,302,682 (GRCm39) H409N probably benign Het
Pik3r5 A T 11: 68,381,337 (GRCm39) E174D probably damaging Het
Pkhd1 G A 1: 20,593,956 (GRCm39) Q1386* probably null Het
Pla2r1 T C 2: 60,345,325 (GRCm39) R344G possibly damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plekhg4 G A 8: 106,108,644 (GRCm39) V1202M possibly damaging Het
Ppil4 A G 10: 7,674,210 (GRCm39) Y118C probably damaging Het
Prrc2b G T 2: 32,103,323 (GRCm39) E934* probably null Het
Psmb9 A G 17: 34,406,249 (GRCm39) F12S probably benign Het
Ptdss2 T C 7: 140,732,793 (GRCm39) W183R probably damaging Het
Ptpn4 C T 1: 119,615,335 (GRCm39) probably null Het
Reln G A 5: 22,253,813 (GRCm39) R600W probably damaging Het
Scml4 T A 10: 42,806,595 (GRCm39) V161E probably damaging Het
Sdcbp2 A T 2: 151,431,478 (GRCm39) T284S probably benign Het
Slc22a29 T C 19: 8,137,991 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spen T C 4: 141,197,121 (GRCm39) probably benign Het
Sumf2 T A 5: 129,878,735 (GRCm39) probably benign Het
Tbx10 A G 19: 4,043,121 (GRCm39) probably benign Het
Tex10 C A 4: 48,468,957 (GRCm39) V73F probably damaging Het
Tgm5 C A 2: 120,907,493 (GRCm39) G77W probably damaging Het
Tnfrsf21 T A 17: 43,351,082 (GRCm39) probably null Het
Treml2 C T 17: 48,609,856 (GRCm39) T96I probably damaging Het
Trim65 T C 11: 116,016,892 (GRCm39) *523W probably null Het
Zcchc17 T A 4: 130,243,099 (GRCm39) D28V probably benign Het
Zhx2 T C 15: 57,686,091 (GRCm39) F487L probably damaging Het
Zkscan6 T A 11: 65,712,811 (GRCm39) L248Q probably damaging Het
Other mutations in Mcm3ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Mcm3ap APN 10 76,307,011 (GRCm39) missense probably benign 0.01
IGL00742:Mcm3ap APN 10 76,328,769 (GRCm39) missense probably damaging 1.00
IGL00898:Mcm3ap APN 10 76,306,159 (GRCm39) missense probably benign 0.00
IGL00984:Mcm3ap APN 10 76,335,400 (GRCm39) missense probably damaging 1.00
IGL01591:Mcm3ap APN 10 76,306,639 (GRCm39) missense probably benign
IGL01882:Mcm3ap APN 10 76,319,018 (GRCm39) missense possibly damaging 0.71
IGL01973:Mcm3ap APN 10 76,306,951 (GRCm39) missense probably benign 0.00
IGL02253:Mcm3ap APN 10 76,305,899 (GRCm39) missense probably benign 0.40
IGL02304:Mcm3ap APN 10 76,320,572 (GRCm39) missense possibly damaging 0.65
IGL02340:Mcm3ap APN 10 76,332,386 (GRCm39) nonsense probably null
IGL02487:Mcm3ap APN 10 76,343,389 (GRCm39) unclassified probably benign
IGL02488:Mcm3ap APN 10 76,335,483 (GRCm39) missense probably damaging 1.00
IGL02640:Mcm3ap APN 10 76,342,255 (GRCm39) missense probably damaging 1.00
IGL02714:Mcm3ap APN 10 76,346,867 (GRCm39) missense probably benign 0.00
IGL02748:Mcm3ap APN 10 76,337,082 (GRCm39) missense probably damaging 1.00
IGL02894:Mcm3ap APN 10 76,313,601 (GRCm39) missense probably benign 0.00
IGL02903:Mcm3ap APN 10 76,307,092 (GRCm39) splice site probably benign
IGL02955:Mcm3ap APN 10 76,343,300 (GRCm39) missense probably benign 0.34
IGL02989:Mcm3ap APN 10 76,306,894 (GRCm39) missense possibly damaging 0.48
IGL03003:Mcm3ap APN 10 76,340,531 (GRCm39) missense probably benign 0.01
IGL03081:Mcm3ap APN 10 76,306,150 (GRCm39) missense possibly damaging 0.86
IGL03218:Mcm3ap APN 10 76,318,567 (GRCm39) missense probably damaging 1.00
IGL03401:Mcm3ap APN 10 76,320,483 (GRCm39) splice site probably benign
Bane UTSW 10 76,319,060 (GRCm39) missense probably damaging 1.00
Doom UTSW 10 76,337,148 (GRCm39) missense probably benign
woeful UTSW 10 76,316,849 (GRCm39) missense probably benign 0.44
PIT4377001:Mcm3ap UTSW 10 76,338,596 (GRCm39) missense possibly damaging 0.78
PIT4791001:Mcm3ap UTSW 10 76,342,307 (GRCm39) missense probably damaging 1.00
R0144:Mcm3ap UTSW 10 76,316,849 (GRCm39) missense probably benign 0.44
R0423:Mcm3ap UTSW 10 76,338,539 (GRCm39) missense probably benign 0.00
R0692:Mcm3ap UTSW 10 76,319,003 (GRCm39) missense probably damaging 1.00
R1402:Mcm3ap UTSW 10 76,313,748 (GRCm39) unclassified probably benign
R1441:Mcm3ap UTSW 10 76,307,000 (GRCm39) missense probably benign
R1512:Mcm3ap UTSW 10 76,306,347 (GRCm39) missense probably damaging 1.00
R1533:Mcm3ap UTSW 10 76,340,121 (GRCm39) missense probably damaging 1.00
R1569:Mcm3ap UTSW 10 76,319,022 (GRCm39) missense possibly damaging 0.80
R1590:Mcm3ap UTSW 10 76,332,375 (GRCm39) missense probably benign 0.36
R1597:Mcm3ap UTSW 10 76,319,060 (GRCm39) missense probably damaging 1.00
R1743:Mcm3ap UTSW 10 76,320,508 (GRCm39) missense possibly damaging 0.53
R1773:Mcm3ap UTSW 10 76,306,994 (GRCm39) missense probably benign
R1922:Mcm3ap UTSW 10 76,343,195 (GRCm39) missense probably damaging 1.00
R2061:Mcm3ap UTSW 10 76,305,902 (GRCm39) missense probably benign 0.43
R2097:Mcm3ap UTSW 10 76,348,323 (GRCm39) missense probably damaging 1.00
R2436:Mcm3ap UTSW 10 76,325,891 (GRCm39) missense probably damaging 1.00
R3684:Mcm3ap UTSW 10 76,325,260 (GRCm39) missense possibly damaging 0.64
R3690:Mcm3ap UTSW 10 76,318,513 (GRCm39) missense probably damaging 1.00
R3881:Mcm3ap UTSW 10 76,342,280 (GRCm39) missense probably benign 0.21
R4296:Mcm3ap UTSW 10 76,343,171 (GRCm39) missense probably damaging 1.00
R4677:Mcm3ap UTSW 10 76,306,404 (GRCm39) missense probably damaging 1.00
R4786:Mcm3ap UTSW 10 76,324,300 (GRCm39) missense probably benign 0.00
R4882:Mcm3ap UTSW 10 76,320,495 (GRCm39) nonsense probably null
R4907:Mcm3ap UTSW 10 76,329,275 (GRCm39) missense probably damaging 1.00
R5108:Mcm3ap UTSW 10 76,338,536 (GRCm39) missense probably benign 0.04
R5279:Mcm3ap UTSW 10 76,343,373 (GRCm39) missense probably damaging 0.96
R5316:Mcm3ap UTSW 10 76,306,760 (GRCm39) missense possibly damaging 0.89
R5402:Mcm3ap UTSW 10 76,319,148 (GRCm39) missense probably benign 0.04
R5459:Mcm3ap UTSW 10 76,332,316 (GRCm39) nonsense probably null
R5473:Mcm3ap UTSW 10 76,338,593 (GRCm39) missense probably damaging 1.00
R5570:Mcm3ap UTSW 10 76,316,930 (GRCm39) missense possibly damaging 0.89
R5931:Mcm3ap UTSW 10 76,307,000 (GRCm39) missense probably benign
R5939:Mcm3ap UTSW 10 76,344,195 (GRCm39) missense probably benign 0.00
R5950:Mcm3ap UTSW 10 76,324,253 (GRCm39) missense possibly damaging 0.46
R5998:Mcm3ap UTSW 10 76,316,976 (GRCm39) critical splice donor site probably null
R6122:Mcm3ap UTSW 10 76,342,441 (GRCm39) missense probably damaging 1.00
R6192:Mcm3ap UTSW 10 76,336,934 (GRCm39) missense probably damaging 0.97
R6226:Mcm3ap UTSW 10 76,351,540 (GRCm39) missense possibly damaging 0.95
R6293:Mcm3ap UTSW 10 76,307,312 (GRCm39) nonsense probably null
R6669:Mcm3ap UTSW 10 76,343,171 (GRCm39) missense probably damaging 0.98
R6715:Mcm3ap UTSW 10 76,325,366 (GRCm39) missense possibly damaging 0.68
R6759:Mcm3ap UTSW 10 76,337,148 (GRCm39) missense probably benign
R6864:Mcm3ap UTSW 10 76,343,313 (GRCm39) missense probably damaging 1.00
R6870:Mcm3ap UTSW 10 76,306,049 (GRCm39) missense probably benign 0.00
R6935:Mcm3ap UTSW 10 76,340,087 (GRCm39) missense possibly damaging 0.84
R6947:Mcm3ap UTSW 10 76,351,500 (GRCm39) missense probably benign 0.09
R7212:Mcm3ap UTSW 10 76,337,145 (GRCm39) missense probably benign 0.01
R7403:Mcm3ap UTSW 10 76,318,657 (GRCm39) critical splice donor site probably null
R7470:Mcm3ap UTSW 10 76,344,231 (GRCm39) missense probably damaging 1.00
R7561:Mcm3ap UTSW 10 76,328,712 (GRCm39) missense possibly damaging 0.94
R7610:Mcm3ap UTSW 10 76,332,554 (GRCm39) splice site probably null
R7620:Mcm3ap UTSW 10 76,306,267 (GRCm39) missense probably benign 0.00
R7898:Mcm3ap UTSW 10 76,342,441 (GRCm39) missense probably damaging 1.00
R8266:Mcm3ap UTSW 10 76,312,414 (GRCm39) nonsense probably null
R8355:Mcm3ap UTSW 10 76,329,335 (GRCm39) missense probably benign 0.32
R8367:Mcm3ap UTSW 10 76,313,693 (GRCm39) missense possibly damaging 0.65
R8867:Mcm3ap UTSW 10 76,306,538 (GRCm39) missense probably benign 0.31
R9282:Mcm3ap UTSW 10 76,342,352 (GRCm39) missense probably damaging 1.00
R9319:Mcm3ap UTSW 10 76,318,638 (GRCm39) missense probably damaging 1.00
R9339:Mcm3ap UTSW 10 76,306,358 (GRCm39) missense probably benign 0.04
R9554:Mcm3ap UTSW 10 76,332,310 (GRCm39) missense probably damaging 0.97
R9706:Mcm3ap UTSW 10 76,312,352 (GRCm39) missense probably damaging 1.00
X0026:Mcm3ap UTSW 10 76,318,619 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTTTGTACTTACGTCCAGCAGCTC -3'
(R):5'- TGGGAAACACAGCCTTCAAGATGC -3'

Sequencing Primer
(F):5'- gactggagagatggcttagtg -3'
(R):5'- CCATCTTTAGCTGCAAAGTCATCAG -3'
Posted On 2013-05-09