Mutagenetix > Incidental Mutation

Incidental Mutation 'R9706:Mcm3ap'

729810

Institutional Source

Beutler Lab

Gene Symbol

Mcm3ap

Ensembl Gene

ENSMUSG00000001150

Gene Name

minichromosome maintenance complex component 3 associated protein

Synonyms

GANP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9706 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76304761-76351691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76312352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 477 (S477L)

Ref Sequence

ENSEMBL: ENSMUSP00000125960 (fasta)

Gene Model

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

AlphaFold

Q9WUU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000170795
AA Change: S477L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150
AA Change: S477L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Atad3a	C	T	4: 155,834,929 (GRCm39)		probably null	Het
Atg16l1	T	C	1: 87,713,977 (GRCm39)	F463L	possibly damaging	Het
Camsap3	C	T	8: 3,658,689 (GRCm39)	T1209I	possibly damaging	Het
Cldn10	T	A	14: 119,099,189 (GRCm39)	M101K	probably damaging	Het
Crb2	G	A	2: 37,681,215 (GRCm39)	G686D	probably damaging	Het
Creb3	T	A	4: 43,565,520 (GRCm39)	L209*	probably null	Het
Crocc	C	A	4: 140,746,046 (GRCm39)	R1855L	possibly damaging	Het
Decr2	A	T	17: 26,302,869 (GRCm39)	M169K	probably benign	Het
Defb22	T	C	2: 152,327,820 (GRCm39)	T122A	unknown	Het
Dnaaf6rt	A	C	1: 31,262,252 (GRCm39)	E78A	possibly damaging	Het
Dnah17	A	T	11: 118,017,026 (GRCm39)	I238N	probably damaging	Het
Efcab14	T	A	4: 115,625,901 (GRCm39)	S457T	possibly damaging	Het
Ephb3	A	T	16: 21,039,193 (GRCm39)	I604F	probably damaging	Het
Fam184a	T	C	10: 53,575,249 (GRCm39)	D120G	probably damaging	Het
Fcrlb	T	A	1: 170,735,474 (GRCm39)	T267S	possibly damaging	Het
Gm15446	A	T	5: 110,091,161 (GRCm39)	Q471L	probably damaging	Het
H2-Q4	A	T	17: 35,599,129 (GRCm39)	Y133F	probably damaging	Het
H2-T24	A	T	17: 36,325,735 (GRCm39)	H285Q	probably benign	Het
Hc	A	C	2: 34,914,196 (GRCm39)	V837G	probably damaging	Het
Hmcn2	G	A	2: 31,305,279 (GRCm39)	V3151I	probably benign	Het
Inpp5e	T	A	2: 26,292,126 (GRCm39)	M311L	probably benign	Het
Inpp5j	A	G	11: 3,449,960 (GRCm39)	F644S	possibly damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lingo3	A	T	10: 80,670,288 (GRCm39)	F547L	probably damaging	Het
Lrrc47	T	G	4: 154,096,487 (GRCm39)	L94R	probably damaging	Het
Lrriq1	A	G	10: 102,881,902 (GRCm39)	F155S		Het
Masp2	A	G	4: 148,696,597 (GRCm39)	E398G	probably benign	Het
Mllt10	T	C	2: 18,151,655 (GRCm39)	V256A	possibly damaging	Het
Muc1	T	A	3: 89,138,888 (GRCm39)	I499K	probably benign	Het
Nup50	G	A	15: 84,811,648 (GRCm39)		probably null	Het
Or13a21	A	T	7: 139,999,266 (GRCm39)	I140N	probably damaging	Het
Or4p20	T	A	2: 88,253,779 (GRCm39)	M197L	probably benign	Het
Or52e18	A	G	7: 104,609,195 (GRCm39)	V248A	probably damaging	Het
Or5ar1	T	A	2: 85,671,658 (GRCm39)	H159L	probably damaging	Het
Pclo	A	T	5: 14,905,683 (GRCm39)	H4971L	unknown	Het
Pcsk1	G	T	13: 75,247,473 (GRCm39)		probably null	Het
Pik3r5	C	A	11: 68,381,426 (GRCm39)	T204N	probably benign	Het
Prrc2b	T	C	2: 32,107,300 (GRCm39)	V1621A	probably benign	Het
Ptchd4	A	G	17: 42,814,806 (GRCm39)	*902W	probably null	Het
R3hdm2	A	G	10: 127,334,298 (GRCm39)	D907G	probably benign	Het
R3hdm4	A	T	10: 79,752,655 (GRCm39)		probably null	Het
Rbpms2	C	T	9: 65,558,285 (GRCm39)	A107V	probably benign	Het
Rgs14	G	A	13: 55,531,934 (GRCm39)	E544K	probably benign	Het
Sacs	C	T	14: 61,445,822 (GRCm39)	Q2623*	probably null	Het
Sec16b	G	A	1: 157,378,695 (GRCm39)		probably null	Het
Spire1	C	T	18: 67,636,508 (GRCm39)	R386Q	probably benign	Het
Sqle	A	T	15: 59,201,625 (GRCm39)	Y492F	probably damaging	Het
Stk38l	C	T	6: 146,677,104 (GRCm39)	T427I	probably benign	Het
Tbx5	C	A	5: 119,979,909 (GRCm39)	L152I	probably benign	Het
Vmn2r101	T	C	17: 19,809,925 (GRCm39)	M237T	probably damaging	Het
Vmn2r58	A	T	7: 41,510,000 (GRCm39)	F526I	probably damaging	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		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
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
X0026:Mcm3ap	UTSW	10	76,318,619 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACATGTGCGTGTGTGCA -3'
(R):5'- ATGAGATCCGGGATGCAGCT -3'

Sequencing Primer
(F):5'- ACCTCGGTAATCATCTGGAGGTC -3'
(R):5'- ACTGCTGCTGCCCTTAGG -3'

Posted On

2022-10-06