Incidental Mutation 'R9339:Mcm3ap'
ID 707389
Institutional Source Beutler Lab
Gene Symbol Mcm3ap
Ensembl Gene ENSMUSG00000001150
Gene Name minichromosome maintenance complex component 3 associated protein
Synonyms GANP
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76304761-76351691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76306358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 157 (E157G)
Ref Sequence ENSEMBL: ENSMUSP00000125960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049185] [ENSMUST00000170795]
AlphaFold Q9WUU9
Predicted Effect probably benign
Transcript: ENSMUST00000049185
SMART Domains Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126

DomainStartEndE-ValueType
Pfam:UPF0054 8 148 7.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170795
AA Change: E157G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: E157G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,521 (GRCm39) E304G unknown Het
4933436I01Rik T A X: 66,964,689 (GRCm39) K57* probably null Het
Aar2 T C 2: 156,392,893 (GRCm39) V94A probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam25 T C 8: 41,206,911 (GRCm39) V59A probably damaging Het
Ampd2 T C 3: 107,987,616 (GRCm39) D103G probably damaging Het
Ankrd12 A G 17: 66,291,408 (GRCm39) S1342P probably benign Het
Atp13a2 A G 4: 140,730,571 (GRCm39) T739A probably benign Het
Catsperg1 T A 7: 28,894,885 (GRCm39) N571Y probably benign Het
Cela3b A G 4: 137,152,355 (GRCm39) I74T probably damaging Het
Cfhr1 A G 1: 139,485,293 (GRCm39) L51P probably benign Het
Cfhr4 T A 1: 139,682,044 (GRCm39) Y184F probably benign Het
Ckap5 T A 2: 91,396,100 (GRCm39) D534E probably benign Het
Cstf3 C T 2: 104,493,778 (GRCm39) P594L probably damaging Het
Ctdp1 A G 18: 80,492,689 (GRCm39) L602P probably damaging Het
Defa24 A G 8: 22,224,559 (GRCm39) T3A probably damaging Het
Dmgdh A G 13: 93,847,941 (GRCm39) H546R probably benign Het
Dscam A G 16: 96,517,263 (GRCm39) V882A possibly damaging Het
Dydc2 A G 14: 40,771,260 (GRCm39) *140Q probably null Het
Ehd4 T C 2: 119,921,708 (GRCm39) D516G possibly damaging Het
En1 T C 1: 120,534,893 (GRCm39) V394A unknown Het
Erich3 T G 3: 154,468,872 (GRCm39) L1108R unknown Het
Erp27 A G 6: 136,896,945 (GRCm39) S86P probably benign Het
Esr1 A C 10: 4,696,798 (GRCm39) S216R probably damaging Het
Fbxo40 A T 16: 36,789,286 (GRCm39) I608N probably damaging Het
Fcna G A 2: 25,517,782 (GRCm39) Q23* probably null Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm39) T150A probably damaging Het
Gbp2b T A 3: 142,317,178 (GRCm39) H511Q probably benign Het
Gpr171 C A 3: 59,005,362 (GRCm39) V138L probably damaging Het
Grhl2 G A 15: 37,344,904 (GRCm39) V509I probably benign Het
Gzmd G A 14: 56,367,869 (GRCm39) P135S probably damaging Het
Hhatl C A 9: 121,618,862 (GRCm39) C90F probably benign Het
Hspg2 A G 4: 137,278,480 (GRCm39) K3050R probably benign Het
Kcnh3 T C 15: 99,130,786 (GRCm39) Y468H probably damaging Het
Lhfpl6 A G 3: 52,950,891 (GRCm39) H55R probably benign Het
Lpgat1 T C 1: 191,451,488 (GRCm39) V38A probably benign Het
Lrrc49 A G 9: 60,510,031 (GRCm39) I479T probably benign Het
Map1b A T 13: 99,567,570 (GRCm39) I1717N unknown Het
Map3k20 G T 2: 72,272,216 (GRCm39) R781S possibly damaging Het
Mylk2 A G 2: 152,755,370 (GRCm39) E178G probably damaging Het
Naaladl2 A G 3: 24,057,146 (GRCm39) L605P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nt5el C T 13: 105,246,114 (GRCm39) T225I probably benign Het
Or10h28 T C 17: 33,488,631 (GRCm39) V311A probably benign Het
Or4a76 T C 2: 89,460,555 (GRCm39) E229G probably damaging Het
Padi3 A T 4: 140,522,928 (GRCm39) I348N probably benign Het
Pcdh18 T C 3: 49,709,335 (GRCm39) D660G probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,452,949 (GRCm39) V3958A probably damaging Het
Ppargc1b C A 18: 61,456,267 (GRCm39) C80F probably damaging Het
Rbm28 T C 6: 29,128,674 (GRCm39) E590G probably benign Het
Rbm47 T C 5: 66,183,826 (GRCm39) E259G possibly damaging Het
Rint1 A G 5: 23,993,355 (GRCm39) *37W probably null Het
Sacs G A 14: 61,443,309 (GRCm39) R1785Q probably benign Het
Samm50 T C 15: 84,095,276 (GRCm39) C421R probably benign Het
Scnn1b G T 7: 121,511,254 (GRCm39) A314S probably damaging Het
Sf3b3 C A 8: 111,542,854 (GRCm39) V868L probably benign Het
Sirt5 G T 13: 43,530,327 (GRCm39) V136L probably benign Het
Slc1a7 T C 4: 107,850,237 (GRCm39) V116A probably damaging Het
Slc24a4 G A 12: 102,230,638 (GRCm39) V510M probably damaging Het
Slc35f5 T C 1: 125,517,628 (GRCm39) I116T probably benign Het
Spata4 T C 8: 55,053,899 (GRCm39) S22P probably benign Het
Sqstm1 A G 11: 50,091,725 (GRCm39) V324A probably benign Het
Stmnd1 G A 13: 46,453,079 (GRCm39) A252T probably benign Het
Tbl1xr1 C A 3: 22,258,150 (GRCm39) N470K possibly damaging Het
Thap12 T C 7: 98,364,323 (GRCm39) S164P possibly damaging Het
Thsd1 A G 8: 22,733,898 (GRCm39) Y315C probably damaging Het
Tnni2 C A 7: 141,997,672 (GRCm39) D102E probably damaging Het
Trav7n-4 A C 14: 53,328,849 (GRCm39) N16T probably benign Het
Trpm7 T C 2: 126,665,906 (GRCm39) K900R probably benign Het
Tspoap1 T A 11: 87,668,839 (GRCm39) C1371S probably benign Het
Tssk5 A G 15: 76,257,156 (GRCm39) M242T possibly damaging Het
Ubn2 A G 6: 38,460,079 (GRCm39) I607V probably benign Het
Ubr2 A T 17: 47,284,865 (GRCm39) V551E probably benign Het
Vipr2 A G 12: 116,058,344 (GRCm39) N87S probably damaging Het
Vmn2r18 T A 5: 151,485,132 (GRCm39) K787N probably damaging Het
Wwc2 A T 8: 48,353,859 (GRCm39) W92R probably damaging Het
Zfp141 A G 7: 42,125,639 (GRCm39) Y278H probably damaging Het
Zfp827 T C 8: 79,844,887 (GRCm39) S686P probably benign 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
R0105:Mcm3ap UTSW 10 76,335,368 (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
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'- TCGCAGCTACTTCGAGTTCC -3'
(R):5'- CTGACGTAGAAACCCTCTTCTC -3'

Sequencing Primer
(F):5'- CTCTGTGCCCGGCAATAC -3'
(R):5'- CTACATTTTGGTTAGACAAAGGAGAG -3'
Posted On 2022-04-18