Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Mcmdc2'

418126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcmdc2

Ensembl Gene

ENSMUSG00000046101

Gene Name

minichromosome maintenance domain containing 2

Synonyms

6030422M02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

9978863-10011179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10001170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 482 (M482V)

Ref Sequence

ENSEMBL: ENSMUSP00000120858 (fasta)

Gene Model

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

AlphaFold

E9Q956

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125294
AA Change: M482V

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: M482V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140948
AA Change: M482V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: M482V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171802
AA Change: M482V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: M482V

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	Het

Other mutations in Mcmdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02374:Mcmdc2	APN	1	9,982,207 (GRCm39)	missense	possibly damaging	0.85
IGL03230:Mcmdc2	APN	1	10,002,221 (GRCm39)	unclassified	probably benign
R0313:Mcmdc2	UTSW	1	10,002,366 (GRCm39)	missense	probably damaging	1.00
R0448:Mcmdc2	UTSW	1	10,010,767 (GRCm39)	makesense	probably null
R0685:Mcmdc2	UTSW	1	9,982,039 (GRCm39)	critical splice donor site	probably null
R0926:Mcmdc2	UTSW	1	9,990,801 (GRCm39)	nonsense	probably null
R1590:Mcmdc2	UTSW	1	9,986,780 (GRCm39)	nonsense	probably null
R1867:Mcmdc2	UTSW	1	10,001,030 (GRCm39)	missense	probably damaging	1.00
R2356:Mcmdc2	UTSW	1	10,001,026 (GRCm39)	missense	possibly damaging	0.76
R5199:Mcmdc2	UTSW	1	9,990,660 (GRCm39)	missense	probably benign	0.37
R5341:Mcmdc2	UTSW	1	10,011,142 (GRCm39)	frame shift	probably null
R5459:Mcmdc2	UTSW	1	10,007,309 (GRCm39)	missense	probably benign	0.06
R5748:Mcmdc2	UTSW	1	9,982,032 (GRCm39)	missense	probably damaging	1.00
R6808:Mcmdc2	UTSW	1	10,004,242 (GRCm39)	missense	probably damaging	1.00
R6908:Mcmdc2	UTSW	1	10,001,003 (GRCm39)	splice site	probably null
R7123:Mcmdc2	UTSW	1	10,010,643 (GRCm39)	missense	unknown
R7233:Mcmdc2	UTSW	1	10,002,408 (GRCm39)	critical splice donor site	probably null
R7498:Mcmdc2	UTSW	1	9,989,302 (GRCm39)	missense	probably benign
R7646:Mcmdc2	UTSW	1	9,982,360 (GRCm39)	missense	possibly damaging	0.53
R7834:Mcmdc2	UTSW	1	9,982,399 (GRCm39)	critical splice donor site	probably null
R8118:Mcmdc2	UTSW	1	9,986,599 (GRCm39)	missense	possibly damaging	0.68
R8194:Mcmdc2	UTSW	1	9,986,867 (GRCm39)	missense	probably benign
R8283:Mcmdc2	UTSW	1	10,004,263 (GRCm39)	missense	possibly damaging	0.85
R8434:Mcmdc2	UTSW	1	9,990,806 (GRCm39)	missense	possibly damaging	0.63
R8523:Mcmdc2	UTSW	1	9,981,946 (GRCm39)	start codon destroyed	probably null	0.87
R9244:Mcmdc2	UTSW	1	9,985,835 (GRCm39)	missense	probably damaging	1.00
R9281:Mcmdc2	UTSW	1	9,994,425 (GRCm39)	missense	probably damaging	1.00
X0025:Mcmdc2	UTSW	1	9,982,191 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02