Incidental Mutation 'R4296:Mcm3ap'
ID 323336
Institutional Source Beutler Lab
Gene Symbol Mcm3ap
Ensembl Gene ENSMUSG00000001150
Gene Name minichromosome maintenance complex component 3 associated protein
Synonyms GANP
MMRRC Submission 041656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4296 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 76304761-76351691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76343171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1688 (I1688F)
Ref Sequence ENSEMBL: ENSMUSP00000125960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170795]
AlphaFold Q9WUU9
Predicted Effect probably damaging
Transcript: ENSMUST00000170795
AA Change: I1688F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: I1688F

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 probably benign
Transcript: ENSMUST00000218361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219811
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,811,513 (GRCm39) G993C probably damaging Het
Abcc2 G C 19: 43,811,514 (GRCm39) G993A probably damaging Het
Abi3bp A T 16: 56,488,673 (GRCm39) H810L probably benign Het
Aldh1l2 T C 10: 83,358,641 (GRCm39) D5G probably benign Het
Aldh7a1 A T 18: 56,678,035 (GRCm39) probably null Het
Aox1 T A 1: 58,096,559 (GRCm39) probably null Het
Apbb1 G T 7: 105,223,033 (GRCm39) Q193K probably benign Het
Arl9 C A 5: 77,154,396 (GRCm39) N41K probably damaging Het
Armc1 A G 3: 19,203,680 (GRCm39) M82T probably damaging Het
Bms1 T C 6: 118,381,960 (GRCm39) E526G probably damaging Het
Cacna1a C T 8: 85,285,922 (GRCm39) R809C probably damaging Het
Cd200r1 T C 16: 44,610,033 (GRCm39) I84T probably damaging Het
Cgrrf1 T C 14: 47,069,812 (GRCm39) V27A probably damaging Het
Clec4f G A 6: 83,629,557 (GRCm39) Q334* probably null Het
Cpeb3 C T 19: 37,151,389 (GRCm39) G329D possibly damaging Het
Ctnnbl1 C T 2: 157,661,490 (GRCm39) probably null Het
Dip2b A T 15: 100,079,217 (GRCm39) M810L probably benign Het
Eml3 T C 19: 8,908,773 (GRCm39) S158P probably damaging Het
Eps8l2 G T 7: 140,938,175 (GRCm39) E470* probably null Het
Flt3l A G 7: 44,783,428 (GRCm39) F146S probably damaging Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Gm11360 T A 13: 28,140,295 (GRCm39) I53N probably damaging Het
Gpbp1l1 T A 4: 116,444,656 (GRCm39) V275D possibly damaging Het
Harbi1 T A 2: 91,543,100 (GRCm39) M187K possibly damaging Het
Has3 T C 8: 107,605,054 (GRCm39) V420A possibly damaging Het
Huwe1 C A X: 150,671,444 (GRCm39) T1012K probably benign Het
Iqcg G A 16: 32,837,345 (GRCm39) probably benign Het
Itga4 G A 2: 79,103,143 (GRCm39) G111R probably damaging Het
Keap1 A G 9: 21,145,282 (GRCm39) S243P probably damaging Het
Kmt2a C T 9: 44,732,472 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Ltbp3 A T 19: 5,806,610 (GRCm39) probably null Het
Mbtps1 C T 8: 120,249,238 (GRCm39) C684Y possibly damaging Het
Midn C T 10: 79,987,553 (GRCm39) T21I probably damaging Het
Naf1 C T 8: 67,342,114 (GRCm39) P580S possibly damaging Het
Nherf4 G A 9: 44,160,158 (GRCm39) R349C probably benign Het
Nlrp3 A T 11: 59,440,487 (GRCm39) E688V possibly damaging Het
Nusap1 A G 2: 119,470,129 (GRCm39) H259R probably damaging Het
Nxpe4 A G 9: 48,310,284 (GRCm39) T516A probably damaging Het
Oas1g T A 5: 121,017,230 (GRCm39) T275S probably damaging Het
Ogdh T G 11: 6,299,374 (GRCm39) F743V probably damaging Het
Or5aq6 T C 2: 86,922,974 (GRCm39) T256A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6c215 C A 10: 129,638,169 (GRCm39) C75F probably damaging Het
Or6c75 C A 10: 129,337,339 (GRCm39) C195* probably null Het
Or9i1b A G 19: 13,896,717 (GRCm39) E111G probably damaging Het
Peg10 GGAT GGATCCCCATCATGAT 6: 4,756,472 (GRCm39) probably benign Het
Piezo1 T A 8: 123,217,866 (GRCm39) Y819F probably damaging Het
Plekhg2 C A 7: 28,070,591 (GRCm39) G20C probably damaging Het
Polq A G 16: 36,881,663 (GRCm39) T997A possibly damaging Het
Polr3a T A 14: 24,503,264 (GRCm39) Q1190L possibly damaging Het
Ppp1r15a T A 7: 45,173,173 (GRCm39) K800* probably null Het
Prkdc T A 16: 15,555,769 (GRCm39) M2181K probably damaging Het
Pskh1 C A 8: 106,639,536 (GRCm39) A72E probably benign Het
Purg T C 8: 33,877,321 (GRCm39) Y320H probably damaging Het
Rab3gap2 T A 1: 184,988,034 (GRCm39) probably null Het
Rnps1 T A 17: 24,644,089 (GRCm39) probably benign Het
Scgb2b21 A T 7: 33,219,233 (GRCm39) V57E probably benign Het
Sdhaf2 A T 19: 10,502,439 (GRCm39) I7N probably benign Het
Six4 A G 12: 73,150,899 (GRCm39) Y549H probably damaging Het
Slc4a10 G T 2: 62,064,772 (GRCm39) V209F possibly damaging Het
Slc4a11 C A 2: 130,526,927 (GRCm39) V734F probably benign Het
Stk4 T A 2: 163,959,904 (GRCm39) M27K possibly damaging Het
Tecrl A T 5: 83,461,174 (GRCm39) C79* probably null Het
Tgm3 G T 2: 129,880,333 (GRCm39) V380L possibly damaging Het
Tiam2 A T 17: 3,501,120 (GRCm39) M920L probably benign Het
Tjp1 T C 7: 64,968,237 (GRCm39) N729S probably damaging Het
Tlr12 A G 4: 128,511,581 (GRCm39) L223P probably damaging Het
Tmem268 T C 4: 63,484,005 (GRCm39) probably null Het
Tmpo A T 10: 90,998,818 (GRCm39) I323K possibly damaging Het
Tmx4 T C 2: 134,440,549 (GRCm39) S302G probably benign Het
Trip11 C A 12: 101,852,127 (GRCm39) E361* probably null Het
Tspyl3 T A 2: 153,067,076 (GRCm39) N54I possibly damaging Het
Upp2 A T 2: 58,668,021 (GRCm39) Y220F probably damaging Het
Usp22 G T 11: 61,052,290 (GRCm39) probably null Het
Vezt ACTCCTCCT ACTCCT 10: 93,809,793 (GRCm39) probably benign Het
Vmn1r235 G T 17: 21,482,562 (GRCm39) G296W probably damaging Het
Vmn1r89 T C 7: 12,954,113 (GRCm39) V94A possibly damaging Het
Zfp607a A T 7: 27,565,073 (GRCm39) E80V 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
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
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'- ACTCAAACCTGGTGCTGCAG -3'
(R):5'- TCCCTCAGCTTATGATTGATGC -3'

Sequencing Primer
(F):5'- CCTATGTTAATGGCACTGGGAAG -3'
(R):5'- CCCTCAGCTTATGATTGATGCATAAG -3'
Posted On 2015-06-20