Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03401:Mcm3ap'

421444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm3ap

Ensembl Gene

ENSMUSG00000001150

Gene Name

minichromosome maintenance complex component 3 associated protein

Synonyms

GANP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03401

Quality Score

Status

Chromosome

Chromosomal Location

76304761-76351691 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76320483 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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,223 (GRCm39)	R581*	probably null	Het
Actn1	A	T	12: 80,215,741 (GRCm39)	L799*	probably null	Het
Adam12	A	T	7: 133,518,192 (GRCm39)	N327K	probably damaging	Het
Adamts9	A	G	6: 92,763,849 (GRCm39)	V1314A	probably damaging	Het
Agbl4	G	T	4: 110,976,216 (GRCm39)	R191L	probably damaging	Het
Ano6	T	C	15: 95,847,786 (GRCm39)	I611T	probably damaging	Het
Arhgef26	T	A	3: 62,330,953 (GRCm39)	S556T	possibly damaging	Het
AW209491	A	G	13: 14,812,041 (GRCm39)	D298G	probably benign	Het
Cc2d1a	A	G	8: 84,861,258 (GRCm39)	M763T	probably benign	Het
Cep290	A	G	10: 100,336,127 (GRCm39)	D388G	probably benign	Het
Cept1	T	C	3: 106,440,706 (GRCm39)	E151G	probably damaging	Het
Chat	T	C	14: 32,174,526 (GRCm39)	K139E	probably damaging	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Enpep	T	A	3: 129,106,269 (GRCm39)	Q319L	probably benign	Het
F13a1	A	G	13: 37,082,054 (GRCm39)	I550T	probably benign	Het
Fbxw19	A	G	9: 109,324,038 (GRCm39)		probably null	Het
Frem3	T	G	8: 81,341,170 (GRCm39)	D1154E	probably damaging	Het
Frmpd1	G	T	4: 45,284,383 (GRCm39)	C1068F	probably benign	Het
Fsip2	C	A	2: 82,820,814 (GRCm39)	P5516T	probably benign	Het
Hyou1	G	A	9: 44,296,206 (GRCm39)	A429T	probably damaging	Het
Lrp1b	C	T	2: 41,000,790 (GRCm39)	E2145K	probably benign	Het
Map1b	A	T	13: 99,563,776 (GRCm39)	V2397D	unknown	Het
Mgst2	T	G	3: 51,571,933 (GRCm39)	S20R	possibly damaging	Het
Nr4a3	T	A	4: 48,070,987 (GRCm39)		probably null	Het
Nup93	T	A	8: 95,036,339 (GRCm39)		probably null	Het
Or1e1f	T	C	11: 73,856,388 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,795,381 (GRCm39)	T611S	probably benign	Het
Pik3ca	C	A	3: 32,491,963 (GRCm39)		probably null	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Prl7b1	A	G	13: 27,785,964 (GRCm39)	Y235H	probably benign	Het
Proc	T	C	18: 32,256,326 (GRCm39)	Y447C	possibly damaging	Het
Pum1	T	C	4: 130,470,992 (GRCm39)		probably benign	Het
Rimklb	A	T	6: 122,441,077 (GRCm39)	I32N	probably damaging	Het
Rrm1	T	A	7: 102,114,951 (GRCm39)	D644E	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shbg	A	G	11: 69,505,925 (GRCm39)	S361P	probably damaging	Het
Trmt9b	A	C	8: 36,972,823 (GRCm39)	D91A	probably damaging	Het
Zfp647	T	A	15: 76,795,568 (GRCm39)	H364L	probably damaging	Het
Zfp715	A	T	7: 42,949,160 (GRCm39)	S267T	probably benign	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
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
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

Posted On

2016-08-02