Mutagenetix > Incidental Mutation

Incidental Mutation 'R4882:Mcm3ap'

375339

Institutional Source

Beutler Lab

Gene Symbol

Mcm3ap

Ensembl Gene

ENSMUSG00000001150

Gene Name

minichromosome maintenance complex component 3 associated protein

Synonyms

GANP

MMRRC Submission

042490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76304761-76351691 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 76320495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 818 (Q818*)

Ref Sequence

ENSEMBL: ENSMUSP00000125960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170795]

AlphaFold

Q9WUU9

Predicted Effect

probably null
Transcript: ENSMUST00000170795
AA Change: Q818*

SMART Domains

Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: Q818*

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000218881
AA Change: A76V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220410

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (59/60)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,990,112 (GRCm39)	D764G	probably damaging	Het
Adgrg6	T	A	10: 14,310,081 (GRCm39)	I775F	possibly damaging	Het
Ahnak	T	A	19: 8,983,261 (GRCm39)	M1515K	probably damaging	Het
Aqp4	A	G	18: 15,531,311 (GRCm39)	V150A	possibly damaging	Het
Axdnd1	A	T	1: 156,223,129 (GRCm39)		probably null	Het
Bap1	C	T	14: 30,973,678 (GRCm39)		probably benign	Het
BB014433	A	G	8: 15,092,016 (GRCm39)	V279A	probably benign	Het
Cacng8	T	C	7: 3,460,669 (GRCm39)	Y151H	probably damaging	Het
Caskin1	T	C	17: 24,723,389 (GRCm39)	S726P	probably damaging	Het
Cd200	T	C	16: 45,217,380 (GRCm39)	T104A	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Ceacam13	A	G	7: 17,746,997 (GRCm39)	H150R	probably benign	Het
Cebpzos	T	C	17: 79,227,220 (GRCm39)	Y65H	probably benign	Het
Cgnl1	T	A	9: 71,624,683 (GRCm39)	M630L	probably benign	Het
Dop1b	G	T	16: 93,549,802 (GRCm39)	R247L	possibly damaging	Het
Dqx1	A	G	6: 83,043,069 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,896,174 (GRCm39)	S648G	probably benign	Het
Flnb	A	G	14: 7,929,936 (GRCm38)	D2022G	possibly damaging	Het
Gpr158	T	A	2: 21,830,059 (GRCm39)	N701K	probably damaging	Het
H2-Eb2	C	T	17: 34,553,230 (GRCm39)	H139Y	probably benign	Het
Hbb-bh2	A	T	7: 103,488,455 (GRCm39)	V114E	probably damaging	Het
Ifna9	T	A	4: 88,510,540 (GRCm39)	Q28L	probably benign	Het
Inca1	T	C	11: 70,579,566 (GRCm39)	T188A	probably benign	Het
Irf9	G	T	14: 55,846,496 (GRCm39)		probably benign	Het
Kdm1b	T	A	13: 47,214,369 (GRCm39)	H238Q	probably benign	Het
Lpin1	G	C	12: 16,588,537 (GRCm39)	F851L	probably damaging	Het
Map3k9	C	T	12: 81,770,936 (GRCm39)	R884Q	probably damaging	Het
Mcm7	A	T	5: 138,164,173 (GRCm39)		probably null	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nppa	G	T	4: 148,085,544 (GRCm39)	M50I	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Phf14	T	A	6: 11,988,756 (GRCm39)	N665K	possibly damaging	Het
Plekhh3	G	A	11: 101,056,009 (GRCm39)	A47V	probably damaging	Het
Plekhh3	T	A	11: 101,058,764 (GRCm39)	E156V	probably null	Het
Prpf19	T	C	19: 10,876,323 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,697,456 (GRCm39)	V651E	possibly damaging	Het
Sgpl1	T	C	10: 60,948,044 (GRCm39)	N171S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slx4	T	C	16: 3,798,860 (GRCm39)		probably null	Het
Smchd1	T	A	17: 71,665,234 (GRCm39)		probably benign	Het
Snca	A	G	6: 60,792,719 (GRCm39)	V63A	probably benign	Het
Taok3	A	T	5: 117,390,695 (GRCm39)	Q92L	probably damaging	Het
Uhrf1	T	C	17: 56,616,401 (GRCm39)	V73A	probably damaging	Het
Usp38	G	A	8: 81,708,606 (GRCm39)	Q991*	probably null	Het
Vmn2r96	T	A	17: 18,817,866 (GRCm39)	V673E	probably damaging	Het
Zan	A	G	5: 137,436,710 (GRCm39)	Y2048H	unknown	Het
Zfp759	T	A	13: 67,287,354 (GRCm39)	Y302N	probably damaging	Het

Other mutations in Mcm3ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAGACTGTAGAGTACCTGCTGAG -3'
(R):5'- CTGTCGCATGAGTTGACAGC -3'

Sequencing Primer
(F):5'- AGAGTACCTGCTGAGTGTGAG -3'
(R):5'- TCTTACCTGGTAGCAGGGGC -3'

Posted On

2016-03-17