Mutagenetix > Incidental Mutation

Incidental Mutation 'R5473:Mcm3ap'

433937

Institutional Source

Beutler Lab

Gene Symbol

Mcm3ap

Ensembl Gene

ENSMUSG00000001150

Gene Name

minichromosome maintenance complex component 3 associated protein

Synonyms

GANP

MMRRC Submission

043034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76304761-76351691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76338593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1407 (L1407R)

Ref Sequence

ENSEMBL: ENSMUSP00000125960 (fasta)

Gene Model

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

AlphaFold

Q9WUU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000170795
AA Change: L1407R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: L1407R

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

noncoding transcript
Transcript: ENSMUST00000219811

Meta Mutation Damage Score

0.3067

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	C	7: 119,312,173 (GRCm39)	Y549H	probably damaging	Het
Adamtsl4	G	T	3: 95,587,303 (GRCm39)	Q758K	probably damaging	Het
Anapc1	G	T	2: 128,449,115 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,492,797 (GRCm39)	C1316S	probably benign	Het
Birc5	T	C	11: 117,743,533 (GRCm39)	V89A	possibly damaging	Het
Camk2d	G	T	3: 126,391,048 (GRCm39)		probably benign	Het
Ccdc47	A	T	11: 106,095,855 (GRCm39)	S280R	probably damaging	Het
Cntnap5a	T	A	1: 116,016,986 (GRCm39)	F193Y	probably benign	Het
Cntrob	G	T	11: 69,213,579 (GRCm39)	D70E	possibly damaging	Het
Col24a1	A	C	3: 145,243,016 (GRCm39)	M1519L	probably benign	Het
Col2a1	G	T	15: 97,885,370 (GRCm39)	A491D	unknown	Het
Crat	A	G	2: 30,297,726 (GRCm39)	L266P	probably damaging	Het
Dlgap1	A	T	17: 70,824,025 (GRCm39)		probably benign	Het
Dnaaf10	T	C	11: 17,174,591 (GRCm39)	V153A	probably damaging	Het
Eya4	T	A	10: 23,039,351 (GRCm39)	H104L	probably benign	Het
Fam83b	T	C	9: 76,398,782 (GRCm39)	K774E	probably damaging	Het
Fgd6	T	C	10: 93,880,538 (GRCm39)	I464T	probably benign	Het
Gorasp2	A	C	2: 70,508,950 (GRCm39)	M123L	probably damaging	Het
H2-M10.3	A	T	17: 36,678,261 (GRCm39)	V188E	probably damaging	Het
Hnrnpk	A	T	13: 58,541,913 (GRCm39)	W333R	probably damaging	Het
Hrh4	T	C	18: 13,154,985 (GRCm39)	Y175H	probably benign	Het
Igf2r	G	T	17: 12,914,201 (GRCm39)	T1756K	probably benign	Het
Kcnq5	A	G	1: 21,527,626 (GRCm39)		probably null	Het
Kiz	G	T	2: 146,811,915 (GRCm39)	E675*	probably null	Het
Mdc1	A	G	17: 36,158,952 (GRCm39)	D444G	probably benign	Het
Myl3	C	A	9: 110,597,026 (GRCm39)	H129N	probably damaging	Het
Neo1	T	C	9: 58,788,126 (GRCm39)	N1309S	possibly damaging	Het
Nrxn1	A	T	17: 90,897,520 (GRCm39)	Y269N	probably damaging	Het
Nsd1	A	G	13: 55,395,585 (GRCm39)	N1165S	probably damaging	Het
Nuf2	T	C	1: 169,334,856 (GRCm39)	D302G	probably benign	Het
Olfr908	A	G	9: 38,427,508 (GRCm39)	Y60C	probably damaging	Het
Or10j3	G	C	1: 173,031,732 (GRCm39)	G270R	probably benign	Het
Or14j1	T	C	17: 38,146,630 (GRCm39)	F247L	probably benign	Het
Or5d38	A	T	2: 87,954,981 (GRCm39)	M116K	possibly damaging	Het
Oxsm	A	T	14: 16,242,045 (GRCm38)	S241R	probably damaging	Het
Pde1a	G	T	2: 79,736,372 (GRCm39)	S87R	probably damaging	Het
Plagl2	A	T	2: 153,074,114 (GRCm39)	C262*	probably null	Het
Plcg2	A	G	8: 118,361,140 (GRCm39)	K1233R	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Ppfia1	A	T	7: 144,045,229 (GRCm39)	M951K	probably benign	Het
Pramel12	A	G	4: 143,145,874 (GRCm39)	R448G	probably damaging	Het
Prpf31	A	G	7: 3,642,824 (GRCm39)	K438E	probably benign	Het
Pum3	C	A	19: 27,396,248 (GRCm39)	V328F	probably damaging	Het
Ralgapa1	T	C	12: 55,723,495 (GRCm39)	E1677G	probably benign	Het
Rpf2	A	G	10: 40,103,627 (GRCm39)	V96A	possibly damaging	Het
Rsrc2	C	T	5: 123,869,150 (GRCm39)	A98T	probably damaging	Het
Saraf	G	A	8: 34,628,412 (GRCm39)	R86Q	probably damaging	Het
Scara5	T	A	14: 65,977,788 (GRCm39)	D349E	possibly damaging	Het
Slc30a1	T	C	1: 191,641,734 (GRCm39)	V460A	possibly damaging	Het
Tdrd7	G	T	4: 46,020,877 (GRCm39)	V768L	possibly damaging	Het
Tshz2	T	C	2: 169,725,718 (GRCm39)	S105P	probably benign	Het
Ufsp2	A	G	8: 46,445,258 (GRCm39)	I362M	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,159 (GRCm39)	I106K	probably benign	Het
Zdhhc5	A	G	2: 84,520,810 (GRCm39)	Y456H	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
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
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'- TCTGGGACCCTGTATCCATATGG -3'
(R):5'- ACAGACAATGGCATTTACTTCG -3'

Sequencing Primer
(F):5'- GGGACCCTGTATCCATATGGTATTTC -3'
(R):5'- GGCATTTACTTCGATCATCTCAGAG -3'

Posted On

2016-10-06