Mutagenetix > Incidental Mutation

Incidental Mutation 'R1402:Mcm3ap'

188573

Institutional Source

Beutler Lab

Gene Symbol

Mcm3ap

Ensembl Gene

ENSMUSG00000001150

Gene Name

minichromosome maintenance complex component 3 associated protein

Synonyms

GANP

MMRRC Submission

039464-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76304761-76351691 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 76313748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9WUU9

Predicted Effect

probably benign
Transcript: ENSMUST00000170795

SMART Domains

Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150

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

probably benign
Transcript: ENSMUST00000218881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220410

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp8	T	A	7: 123,065,862 (GRCm39)	V219E	probably damaging	Het
Birc6	T	A	17: 75,004,528 (GRCm39)		probably benign	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Dlg5	T	C	14: 24,226,676 (GRCm39)	S409G	probably benign	Het
Ehmt2	C	T	17: 35,125,757 (GRCm39)	T607I	probably benign	Het
H2-T22	A	T	17: 36,351,161 (GRCm39)	I307N	possibly damaging	Het
Itih3	T	C	14: 30,630,665 (GRCm39)	D882G	probably damaging	Het
Kmt5c	G	T	7: 4,745,252 (GRCm39)	R81L	possibly damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nr1i2	A	G	16: 38,073,245 (GRCm39)	S244P	probably damaging	Het
Pcx	A	G	19: 4,652,058 (GRCm39)	D101G	possibly damaging	Het
Prkch	T	C	12: 73,632,163 (GRCm39)	V76A	probably damaging	Het
Skic3	A	G	13: 76,279,533 (GRCm39)	Y655C	probably damaging	Het
Thsd1	A	G	8: 22,749,384 (GRCm39)	K691E	possibly damaging	Het
Tmprss11e	G	A	5: 86,863,477 (GRCm39)	T196I	probably damaging	Het
Trappc13	A	G	13: 104,286,624 (GRCm39)	V211A	probably damaging	Het
Vav1	C	A	17: 57,610,849 (GRCm39)	L472I	probably benign	Het
Wdr25	G	A	12: 108,992,465 (GRCm39)	E459K	probably damaging	Het
Zdbf2	A	T	1: 63,342,786 (GRCm39)	E388D	possibly damaging	Het
Zfp663	T	C	2: 165,195,890 (GRCm39)	K110E	probably benign	Het
Zfp78	C	A	7: 6,381,618 (GRCm39)	H223N	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
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'- TCTGAAGATGCACCAGTTTGAGGC -3'
(R):5'- TCCGAAGGGGAACAATCCTGAAATG -3'

Sequencing Primer
(F):5'- TTAGCACCCTGATAGGGACT -3'
(R):5'- TGAAATGGAGCATCCCCTCTC -3'

Posted On

2014-05-09