Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00943:Mcm9'

28358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

9030408O17Rik, Mcmdc1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00943

Quality Score

Status

Chromosome

Chromosomal Location

53412411-53506535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53424685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 635 (L635P)

Ref Sequence

ENSEMBL: ENSMUSP00000074978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219547] [ENSMUST00000220007]

AlphaFold

Q2KHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075540
AA Change: L635P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: L635P

Domain	Start	End	E-Value	Type
low complexity region	22	44	N/A	INTRINSIC
low complexity region	62	79	N/A	INTRINSIC
low complexity region	81	111	N/A	INTRINSIC
MCM	268	761	9.44e-116	SMART
AAA	500	649	2.43e-6	SMART
coiled coil region	789	817	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	1004	1028	N/A	INTRINSIC
low complexity region	1045	1056	N/A	INTRINSIC
low complexity region	1199	1216	N/A	INTRINSIC
low complexity region	1219	1232	N/A	INTRINSIC
low complexity region	1246	1255	N/A	INTRINSIC
low complexity region	1262	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219547

Predicted Effect

probably benign
Transcript: ENSMUST00000220007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220260

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,680,824 (GRCm39)	Y372C	probably damaging	Het
Carmil1	C	T	13: 24,295,869 (GRCm39)	V382M	possibly damaging	Het
Chkb	A	T	15: 89,312,951 (GRCm39)	V138E	probably damaging	Het
Col7a1	G	T	9: 108,806,765 (GRCm39)	G2434*	probably null	Het
Cpa3	A	G	3: 20,282,979 (GRCm39)	V156A	possibly damaging	Het
Dicer1	A	C	12: 104,663,031 (GRCm39)	S1517A	possibly damaging	Het
Dnajc14	T	G	10: 128,652,675 (GRCm39)	S578A	possibly damaging	Het
Dse	A	G	10: 34,038,801 (GRCm39)	Y201H	probably damaging	Het
Fam114a2	A	T	11: 57,405,099 (GRCm39)	M1K	probably null	Het
Gm4847	A	T	1: 166,469,922 (GRCm39)	S50R	probably benign	Het
Gpr156	A	G	16: 37,808,938 (GRCm39)	Y220C	probably damaging	Het
Grxcr1	T	C	5: 68,189,638 (GRCm39)		probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Ino80b	A	T	6: 83,101,129 (GRCm39)	L116Q	probably damaging	Het
Inpp5e	A	G	2: 26,290,163 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,658 (GRCm39)	C628R	probably damaging	Het
Maml1	A	G	11: 50,149,541 (GRCm39)	V733A	probably damaging	Het
Myh15	A	T	16: 48,986,176 (GRCm39)	I1549F	probably damaging	Het
Myo1b	T	A	1: 51,823,646 (GRCm39)	I414F	probably damaging	Het
Nlrc3	T	A	16: 3,782,981 (GRCm39)	I159F	possibly damaging	Het
Nvl	A	T	1: 180,929,199 (GRCm39)	D727E	possibly damaging	Het
Or1l4	T	C	2: 37,092,183 (GRCm39)	V310A	probably benign	Het
Pgs1	A	G	11: 117,896,366 (GRCm39)	I348V	probably benign	Het
Pkp1	A	T	1: 135,805,922 (GRCm39)	V592E	probably damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Slc26a7	T	C	4: 14,506,477 (GRCm39)	D624G	probably benign	Het
Slc39a6	A	G	18: 24,722,802 (GRCm39)		probably null	Het
Sorbs1	T	C	19: 40,283,484 (GRCm39)		probably benign	Het
Tnfrsf19	A	T	14: 61,261,631 (GRCm39)	M56K	possibly damaging	Het
Togaram2	C	T	17: 72,031,999 (GRCm39)	R873C	probably damaging	Het
Tubgcp6	G	A	15: 89,006,600 (GRCm39)	R141*	probably null	Het
Vill	A	G	9: 118,892,380 (GRCm39)	E337G	probably damaging	Het
Vmn1r17	A	G	6: 57,338,185 (GRCm39)	L11S	possibly damaging	Het

Other mutations in Mcm9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mcm9	APN	10	53,499,069 (GRCm39)	missense	probably damaging	0.97
IGL00904:Mcm9	APN	10	53,499,017 (GRCm39)	missense	possibly damaging	0.89
IGL01019:Mcm9	APN	10	53,506,041 (GRCm39)	missense	probably damaging	1.00
IGL02452:Mcm9	APN	10	53,417,653 (GRCm39)	missense	probably damaging	1.00
IGL02481:Mcm9	APN	10	53,502,033 (GRCm39)	missense	probably damaging	1.00
IGL02982:Mcm9	APN	10	53,501,922 (GRCm39)	missense	probably damaging	0.99
IGL03300:Mcm9	APN	10	53,487,523 (GRCm39)	missense	probably damaging	1.00
R0021:Mcm9	UTSW	10	53,413,997 (GRCm39)	missense	possibly damaging	0.94
R0117:Mcm9	UTSW	10	53,413,832 (GRCm39)	missense	possibly damaging	0.49
R0137:Mcm9	UTSW	10	53,439,526 (GRCm39)	missense	possibly damaging	0.95
R0420:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R0499:Mcm9	UTSW	10	53,414,250 (GRCm39)	missense	probably benign	0.01
R0543:Mcm9	UTSW	10	53,417,694 (GRCm39)	missense	probably damaging	0.97
R0947:Mcm9	UTSW	10	53,413,597 (GRCm39)	small deletion	probably benign
R0975:Mcm9	UTSW	10	53,414,742 (GRCm39)	nonsense	probably null
R1573:Mcm9	UTSW	10	53,424,752 (GRCm39)	missense	probably damaging	0.97
R1726:Mcm9	UTSW	10	53,413,977 (GRCm39)	missense	possibly damaging	0.67
R1839:Mcm9	UTSW	10	53,417,649 (GRCm39)	missense	probably damaging	0.99
R2050:Mcm9	UTSW	10	53,488,921 (GRCm39)	critical splice donor site	probably null
R2113:Mcm9	UTSW	10	53,491,943 (GRCm39)	splice site	probably null
R2172:Mcm9	UTSW	10	53,424,670 (GRCm39)	missense	probably damaging	1.00
R3417:Mcm9	UTSW	10	53,413,503 (GRCm39)	missense	possibly damaging	0.83
R3755:Mcm9	UTSW	10	53,502,048 (GRCm39)	missense	probably benign	0.08
R3787:Mcm9	UTSW	10	53,492,076 (GRCm39)	missense	possibly damaging	0.78
R3789:Mcm9	UTSW	10	53,492,113 (GRCm39)	missense	probably damaging	1.00
R3953:Mcm9	UTSW	10	53,439,440 (GRCm39)	missense	probably damaging	1.00
R4291:Mcm9	UTSW	10	53,423,668 (GRCm39)	missense	probably benign	0.22
R4358:Mcm9	UTSW	10	53,413,749 (GRCm39)	missense	probably benign	0.03
R4660:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R4662:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R5082:Mcm9	UTSW	10	53,414,156 (GRCm39)	missense	possibly damaging	0.94
R5130:Mcm9	UTSW	10	53,506,495 (GRCm39)	missense	possibly damaging	0.90
R5193:Mcm9	UTSW	10	53,492,134 (GRCm39)	missense	probably damaging	0.99
R5238:Mcm9	UTSW	10	53,506,093 (GRCm39)	missense	possibly damaging	0.83
R5317:Mcm9	UTSW	10	53,414,330 (GRCm39)	missense	probably damaging	1.00
R5395:Mcm9	UTSW	10	53,414,788 (GRCm39)	missense	possibly damaging	0.93
R5524:Mcm9	UTSW	10	53,424,786 (GRCm39)	nonsense	probably null
R5593:Mcm9	UTSW	10	53,414,393 (GRCm39)	missense	probably damaging	0.99
R5748:Mcm9	UTSW	10	53,501,825 (GRCm39)	missense	probably damaging	1.00
R6025:Mcm9	UTSW	10	53,492,073 (GRCm39)	missense	possibly damaging	0.93
R6299:Mcm9	UTSW	10	53,413,777 (GRCm39)	missense	probably damaging	1.00
R6344:Mcm9	UTSW	10	53,414,033 (GRCm39)	missense	probably benign	0.03
R6502:Mcm9	UTSW	10	53,488,935 (GRCm39)	missense	probably damaging	1.00
R6621:Mcm9	UTSW	10	53,439,409 (GRCm39)	missense	probably damaging	1.00
R6883:Mcm9	UTSW	10	53,492,110 (GRCm39)	missense	probably damaging	1.00
R6932:Mcm9	UTSW	10	53,496,299 (GRCm39)	missense	probably benign	0.06
R6963:Mcm9	UTSW	10	53,424,713 (GRCm39)	missense	probably damaging	1.00
R7094:Mcm9	UTSW	10	53,496,253 (GRCm39)	missense	probably damaging	1.00
R7114:Mcm9	UTSW	10	53,414,669 (GRCm39)	missense	possibly damaging	0.55
R7200:Mcm9	UTSW	10	53,492,019 (GRCm39)	missense
R7593:Mcm9	UTSW	10	53,506,088 (GRCm39)	missense	probably benign	0.04
R7671:Mcm9	UTSW	10	53,413,665 (GRCm39)	missense	probably benign	0.01
R7697:Mcm9	UTSW	10	53,491,990 (GRCm39)	missense
R7997:Mcm9	UTSW	10	53,473,502 (GRCm39)	start gained	probably benign
R8136:Mcm9	UTSW	10	53,487,439 (GRCm39)	makesense	probably null
R8137:Mcm9	UTSW	10	53,499,076 (GRCm39)	missense
R8494:Mcm9	UTSW	10	53,501,856 (GRCm39)	missense	possibly damaging	0.48
R8526:Mcm9	UTSW	10	53,506,221 (GRCm39)	unclassified	probably benign
R8558:Mcm9	UTSW	10	53,492,068 (GRCm39)	missense	probably benign	0.07
R8703:Mcm9	UTSW	10	53,506,073 (GRCm39)	missense	probably damaging	0.96
R8836:Mcm9	UTSW	10	53,502,130 (GRCm39)	missense
R8994:Mcm9	UTSW	10	53,424,620 (GRCm39)	missense	probably benign	0.31
R9150:Mcm9	UTSW	10	53,502,110 (GRCm39)	missense
R9564:Mcm9	UTSW	10	53,506,104 (GRCm39)	missense	possibly damaging	0.90
Z1176:Mcm9	UTSW	10	53,505,884 (GRCm39)	frame shift	probably null
Z1176:Mcm9	UTSW	10	53,413,603 (GRCm39)	missense	unknown

Posted On

2013-04-17