Mutagenetix > Incidental Mutations

Incidental Mutation 'R2356:Mcmdc2'

246905

Institutional Source

Beutler Lab

Gene Symbol

Mcmdc2

Ensembl Gene

ENSMUSG00000046101

Gene Name

minichromosome maintenance domain containing 2

Synonyms

MMRRC Submission

040338-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9908638-9942085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9930801 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 434 (T434A)

Ref Sequence

ENSEMBL: ENSMUSP00000120858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125294
AA Change: T434A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: T434A

Domain	Start	End	E-Value	Type
Blast:MCM	115	236	3e-73	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140948
AA Change: T434A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: T434A

Domain	Start	End	E-Value	Type
Blast:MCM	115	358	1e-139	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171802
AA Change: T434A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: T434A

Domain	Start	End	E-Value	Type
Pfam:MCM	503	623	1.4e-9	PFAM
low complexity region	658	665	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183059

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout mice of both sexes are sterile as a result of abnormal meiosis. This in turn is caused by defective double-strand break DNA repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,955	V4407A	possibly damaging	Het
Abcf3	G	T	16: 20,560,499	R705L	probably benign	Het
Adcy6	A	T	15: 98,597,016		probably null	Het
Ank1	A	T	8: 23,085,672	T145S	probably damaging	Het
Aph1a	T	C	3: 95,894,232	F21S	probably benign	Het
Apoa5	T	A	9: 46,270,043	V139E	probably damaging	Het
Arhgap44	T	C	11: 65,010,025	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,519,147	P967L	probably benign	Het
Atp13a5	A	T	16: 29,281,069	I683N	probably damaging	Het
Cdc6	A	G	11: 98,919,292	T476A	probably benign	Het
Cdk10	T	C	8: 123,229,169	V199A	probably damaging	Het
Ces2h	G	A	8: 105,015,938	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,291,625	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,589,514	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,937,749	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,652,381	S276A	probably benign	Het
Dlg5	A	G	14: 24,170,428		probably null	Het
Dnaaf1	T	A	8: 119,588,287	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,198,218	F23S	probably benign	Het
En2	G	T	5: 28,166,332		probably benign	Het
Erbb4	T	A	1: 68,078,596	M887L	probably benign	Het
Exoc5	T	C	14: 49,016,281	M482V	probably benign	Het
Foxk1	A	G	5: 142,455,409	I571V	possibly damaging	Het
Fry	G	A	5: 150,471,432	G650D	probably benign	Het
Gm8225	T	C	17: 26,543,404	S190P	probably damaging	Het
Gm9573	A	G	17: 35,621,671		probably benign	Het
Gpx5	G	C	13: 21,291,368	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,406,817	S285T	probably benign	Het
Itga8	T	C	2: 12,200,141	H495R	probably benign	Het
Klf11	T	C	12: 24,653,583	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,487,901	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,487,902	Y2*	probably null	Het
Lama1	T	A	17: 67,810,114	L2468Q	probably damaging	Het
Lmo7	T	C	14: 101,886,945	L280S	probably damaging	Het
Matk	G	A	10: 81,261,543		probably null	Het
Mst1r	T	A	9: 107,917,870	L1283Q	probably damaging	Het
Nbn	T	A	4: 15,970,863	I282N	probably damaging	Het
Ncln	A	G	10: 81,492,922	V174A	probably benign	Het
Nipa2	G	A	7: 55,932,966	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306		noncoding transcript	Het
Olfr657	G	T	7: 104,636,627	E318*	probably null	Het
Olfr768	T	C	10: 129,093,892	I27M	probably benign	Het
Pik3r5	T	C	11: 68,492,917	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,533,019	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,222,701	D464A	probably damaging	Het
Ppp4r1	T	A	17: 65,833,050	Y648N	probably damaging	Het
Prkaa2	C	T	4: 105,039,721		probably null	Het
Prkdc	T	A	16: 15,684,204	H828Q	probably benign	Het
Prss40	A	T	1: 34,559,903	Y69*	probably null	Het
Prx	C	T	7: 27,507,859		probably benign	Het
Psmd11	T	A	11: 80,428,704	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,800,007	H287L	probably benign	Het
Rcor1	T	C	12: 111,109,792	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,591,576	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,217,367	E163*	probably null	Het
Setd4	G	A	16: 93,590,983	T205I	probably damaging	Het
Shroom1	A	T	11: 53,466,447	T646S	probably benign	Het
Smg8	G	C	11: 87,085,728	S342R	probably benign	Het
Trhde	T	C	10: 114,401,516	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,518,628	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 22,883,950	L71*	probably null	Het
Wnk2	A	T	13: 49,039,168	C2032*	probably null	Het
Zfp429	A	G	13: 67,390,627	Y233H	probably benign	Het
Zfp809	C	A	9: 22,243,040	T351K	probably benign	Het

Other mutations in Mcmdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02374:Mcmdc2	APN	1	9911982	missense	possibly damaging	0.85
IGL03087:Mcmdc2	APN	1	9930945	missense	possibly damaging	0.78
IGL03230:Mcmdc2	APN	1	9931996	unclassified	probably benign
R0313:Mcmdc2	UTSW	1	9932141	missense	probably damaging	1.00
R0448:Mcmdc2	UTSW	1	9940542	makesense	probably null
R0685:Mcmdc2	UTSW	1	9911814	critical splice donor site	probably null
R0926:Mcmdc2	UTSW	1	9920576	nonsense	probably null
R1590:Mcmdc2	UTSW	1	9916555	nonsense	probably null
R1867:Mcmdc2	UTSW	1	9930805	missense	probably damaging	1.00
R5199:Mcmdc2	UTSW	1	9920435	missense	probably benign	0.37
R5341:Mcmdc2	UTSW	1	9940917	frame shift	probably null
R5459:Mcmdc2	UTSW	1	9937084	missense	probably benign	0.06
R5748:Mcmdc2	UTSW	1	9911807	missense	probably damaging	1.00
R6808:Mcmdc2	UTSW	1	9934017	missense	probably damaging	1.00
R6908:Mcmdc2	UTSW	1	9930778	splice site	probably null
R7123:Mcmdc2	UTSW	1	9940418	missense	unknown
R7233:Mcmdc2	UTSW	1	9932183	critical splice donor site	probably null
R7498:Mcmdc2	UTSW	1	9919077	missense	probably benign
R7646:Mcmdc2	UTSW	1	9912135	missense	possibly damaging	0.53
R7834:Mcmdc2	UTSW	1	9912174	critical splice donor site	probably null
R7917:Mcmdc2	UTSW	1	9912174	critical splice donor site	probably null
R8118:Mcmdc2	UTSW	1	9916374	missense	possibly damaging	0.68
X0025:Mcmdc2	UTSW	1	9911966	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAGGATAAATCAGCCCACCCTG -3'
(R):5'- ACAGTAAAATAGTCAGAGCCCTTAC -3'

Sequencing Primer
(F):5'- CAGCATGGTCTACAGAGTGAGTTCC -3'
(R):5'- ATAGTCAGAGCCCTTACCATCTG -3'

Posted On

2014-10-30