Incidental Mutation 'R4677:Mcm3ap'
ID 349678
Institutional Source Beutler Lab
Gene Symbol Mcm3ap
Ensembl Gene ENSMUSG00000001150
Gene Name minichromosome maintenance complex component 3 associated protein
Synonyms GANP
MMRRC Submission 042014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4677 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76304761-76351691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76306404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 172 (F172L)
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 damaging
Transcript: ENSMUST00000170795
AA Change: F172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: F172L

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: ENSMUST00000218564
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (85/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,793,587 (GRCm39) M1T probably null Het
Akap3 T C 6: 126,842,226 (GRCm39) S282P probably damaging Het
Anxa10 A G 8: 62,516,054 (GRCm39) I206T probably damaging Het
Apobec3 A G 15: 79,779,713 (GRCm39) D52G probably damaging Het
Arl6 A T 16: 59,439,228 (GRCm39) probably null Het
Calcoco1 T C 15: 102,626,329 (GRCm39) E87G probably damaging Het
Ccdc88b C A 19: 6,825,636 (GRCm39) A1206S probably damaging Het
Ccpg1 A G 9: 72,923,197 (GRCm39) probably benign Het
Cdon A G 9: 35,389,901 (GRCm39) N852D probably damaging Het
Cobl T A 11: 12,336,665 (GRCm39) Q41L possibly damaging Het
Cspg4b A G 13: 113,516,020 (GRCm39) T145A unknown Het
Dcdc2b T C 4: 129,507,936 (GRCm39) T39A probably damaging Het
Ddx55 A T 5: 124,705,997 (GRCm39) D474V probably benign Het
Dipk2a A T 9: 94,402,457 (GRCm39) C402S probably damaging Het
Dnah17 A G 11: 118,010,640 (GRCm39) L521P probably damaging Het
Exoc1 A G 5: 76,707,010 (GRCm39) D497G probably null Het
Fam151a A G 4: 106,605,456 (GRCm39) E606G possibly damaging Het
Fbxw11 T A 11: 32,692,535 (GRCm39) L502* probably null Het
Fcrl1 A G 3: 87,297,563 (GRCm39) S337G possibly damaging Het
G6pc1 C A 11: 101,267,439 (GRCm39) F296L probably benign Het
Gm17472 C A 6: 42,957,809 (GRCm39) T26N probably damaging Het
Grin2b A G 6: 135,751,870 (GRCm39) V564A probably benign Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
Hhip A G 8: 80,771,726 (GRCm39) Y195H probably damaging Het
Igkc A T 6: 70,703,662 (GRCm39) probably benign Het
Islr A T 9: 58,064,642 (GRCm39) D288E probably damaging Het
Kdelr1 A G 7: 45,523,197 (GRCm39) S36G probably benign Het
Lama5 G T 2: 179,821,159 (GRCm39) H3134Q possibly damaging Het
Loricrin A G 3: 91,989,050 (GRCm39) Y79H unknown Het
Lrp1b A G 2: 40,691,496 (GRCm39) F3327S probably damaging Het
Lrrc41 C T 4: 115,952,332 (GRCm39) H637Y probably benign Het
Map2k6 C T 11: 110,290,220 (GRCm39) probably benign Het
Muc19 G A 15: 91,772,411 (GRCm39) noncoding transcript Het
Muc21 T A 17: 35,930,599 (GRCm39) probably benign Het
Muc6 T A 7: 141,224,212 (GRCm39) probably benign Het
Nek1 A T 8: 61,481,840 (GRCm39) I252L probably damaging Het
Nrg2 A T 18: 36,154,152 (GRCm39) H588Q possibly damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Or1j12 A G 2: 36,343,062 (GRCm39) N155S probably benign Het
Or51b17 T C 7: 103,542,615 (GRCm39) E109G probably damaging Het
Or5m5 A G 2: 85,814,315 (GRCm39) T44A possibly damaging Het
Or8k1 A T 2: 86,048,032 (GRCm39) S7R probably benign Het
Pde3a A G 6: 141,411,865 (GRCm39) N480D probably benign Het
Pde6c A G 19: 38,145,833 (GRCm39) K374E probably damaging Het
Pdhx G A 2: 102,903,811 (GRCm39) probably null Het
Pi4ka A G 16: 17,100,237 (GRCm39) Y1888H probably damaging Het
Pnpla2 T A 7: 141,038,356 (GRCm39) M203K probably damaging Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptcd3 G T 6: 71,870,498 (GRCm39) H321N probably benign Het
Ptprt A G 2: 161,743,366 (GRCm39) probably null Het
Ptx4 A G 17: 25,342,100 (GRCm39) T192A probably benign Het
Qars1 A G 9: 108,386,889 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,187,387 (GRCm39) P1372S possibly damaging Het
Rps6ka4 G T 19: 6,816,854 (GRCm39) T107K probably damaging Het
Rsf1 A G 7: 97,329,980 (GRCm39) T1169A possibly damaging Het
Ryr2 C A 13: 11,721,553 (GRCm39) W2626L probably damaging Het
Scn4a C T 11: 106,214,788 (GRCm39) V1270I probably damaging Het
Serpinb9b T C 13: 33,223,806 (GRCm39) S333P probably damaging Het
Sned1 A G 1: 93,224,019 (GRCm39) probably benign Het
Sult1c2 C T 17: 54,137,137 (GRCm39) V262M possibly damaging Het
Tll1 A T 8: 64,504,411 (GRCm39) F662I probably benign Het
Tmem161a A T 8: 70,633,597 (GRCm39) probably null Het
Top1mt A C 15: 75,535,907 (GRCm39) V465G possibly damaging Het
Trcg1 A G 9: 57,153,144 (GRCm39) K596E possibly damaging Het
Trim27 T A 13: 21,365,086 (GRCm39) probably null Het
Trpm3 A G 19: 22,964,752 (GRCm39) I1406V possibly damaging Het
Tssc4 T A 7: 142,624,246 (GRCm39) S254T probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Usp30 A G 5: 114,257,705 (GRCm39) T288A probably damaging Het
Usp48 C A 4: 137,343,692 (GRCm39) R441S probably benign Het
Vmn1r29 T C 6: 58,284,285 (GRCm39) S2P probably benign Het
Vmn2r65 T A 7: 84,613,082 (GRCm39) I46L possibly damaging Het
Zeb1 A T 18: 5,766,775 (GRCm39) I429F probably damaging Het
Zfp943 A G 17: 22,212,176 (GRCm39) R421G 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
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'- GGCATTCAGCTTTAAGTCAACCTC -3'
(R):5'- TTTGAGCTTCCAAACGCTGAC -3'

Sequencing Primer
(F):5'- AAGTCAACCTCTAGTGTTGGG -3'
(R):5'- GCTGACGTAGAAACCCTCTTC -3'
Posted On 2015-10-08