Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Mcph1'

442260

Institutional Source

Beutler Lab

Gene Symbol

Mcph1

Ensembl Gene

ENSMUSG00000039842

Gene Name

microcephaly, primary autosomal recessive 1

Synonyms

5430437K10Rik, D030046N04Rik, BRIT1

MMRRC Submission

043301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18645147-18853205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18838326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 749 (M749I)

Ref Sequence

ENSEMBL: ENSMUSP00000037000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039412]

AlphaFold

Q7TT79

Predicted Effect

probably benign
Transcript: ENSMUST00000039412
AA Change: M749I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: M749I

Domain	Start	End	E-Value	Type
BRCT	13	89	2.64e-4	SMART
coiled coil region	128	155	N/A	INTRINSIC
Pfam:Microcephalin	224	597	1.2e-143	PFAM
BRCT	624	707	2.23e-2	SMART
BRCT	740	810	1.55e-1	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Actr3b	G	T	5: 26,053,366 (GRCm39)	V232F	probably damaging	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asns	A	C	6: 7,685,309 (GRCm39)	M116R	probably benign	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bckdha	A	G	7: 25,329,789 (GRCm39)	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gabra1	A	T	11: 42,073,750 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,847,032 (GRCm39)	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	Het

Other mutations in Mcph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Mcph1	APN	8	18,682,636 (GRCm39)	missense	possibly damaging	0.95
IGL00816:Mcph1	APN	8	18,682,413 (GRCm39)	missense	possibly damaging	0.59
IGL01432:Mcph1	APN	8	18,675,655 (GRCm39)	missense	probably damaging	0.99
IGL01674:Mcph1	APN	8	18,681,535 (GRCm39)	missense	probably damaging	1.00
IGL01746:Mcph1	APN	8	18,721,143 (GRCm39)	missense	probably damaging	1.00
IGL01788:Mcph1	APN	8	18,682,420 (GRCm39)	missense	probably damaging	1.00
IGL01788:Mcph1	APN	8	18,682,419 (GRCm39)	missense	probably damaging	1.00
IGL02185:Mcph1	APN	8	18,719,006 (GRCm39)	splice site	probably benign
IGL02677:Mcph1	APN	8	18,675,609 (GRCm39)	missense	probably damaging	1.00
IGL03376:Mcph1	APN	8	18,646,989 (GRCm39)	missense	probably damaging	0.99
PIT4514001:Mcph1	UTSW	8	18,681,906 (GRCm39)	missense	probably damaging	0.99
R0116:Mcph1	UTSW	8	18,838,264 (GRCm39)	missense	probably benign	0.06
R0189:Mcph1	UTSW	8	18,838,487 (GRCm39)	missense	probably damaging	0.96
R1510:Mcph1	UTSW	8	18,682,703 (GRCm39)	splice site	probably null
R1547:Mcph1	UTSW	8	18,672,702 (GRCm39)	missense	possibly damaging	0.65
R1574:Mcph1	UTSW	8	18,851,428 (GRCm39)	missense	probably damaging	0.99
R1574:Mcph1	UTSW	8	18,851,428 (GRCm39)	missense	probably damaging	0.99
R1733:Mcph1	UTSW	8	18,681,979 (GRCm39)	missense	probably benign	0.18
R1742:Mcph1	UTSW	8	18,657,379 (GRCm39)	missense	probably benign	0.03
R1975:Mcph1	UTSW	8	18,739,081 (GRCm39)	splice site	probably benign
R3836:Mcph1	UTSW	8	18,672,675 (GRCm39)	missense	possibly damaging	0.91
R4405:Mcph1	UTSW	8	18,682,557 (GRCm39)	missense	probably benign	0.00
R4493:Mcph1	UTSW	8	18,681,752 (GRCm39)	nonsense	probably null
R4824:Mcph1	UTSW	8	18,682,703 (GRCm39)	splice site	probably null
R4873:Mcph1	UTSW	8	18,675,574 (GRCm39)	critical splice acceptor site	probably null
R4875:Mcph1	UTSW	8	18,675,574 (GRCm39)	critical splice acceptor site	probably null
R5125:Mcph1	UTSW	8	18,657,342 (GRCm39)	missense	probably damaging	0.98
R5178:Mcph1	UTSW	8	18,657,342 (GRCm39)	missense	probably damaging	0.98
R5217:Mcph1	UTSW	8	18,838,489 (GRCm39)	missense	probably damaging	0.99
R5233:Mcph1	UTSW	8	18,721,254 (GRCm39)	missense	probably damaging	0.96
R5299:Mcph1	UTSW	8	18,702,596 (GRCm39)	intron	probably benign
R5335:Mcph1	UTSW	8	18,739,077 (GRCm39)	critical splice donor site	probably null
R5579:Mcph1	UTSW	8	18,682,309 (GRCm39)	missense	probably benign	0.18
R5621:Mcph1	UTSW	8	18,682,186 (GRCm39)	missense	probably damaging	1.00
R5721:Mcph1	UTSW	8	18,721,223 (GRCm39)	missense	probably damaging	0.99
R6076:Mcph1	UTSW	8	18,682,015 (GRCm39)	missense	probably benign	0.40
R6592:Mcph1	UTSW	8	18,718,983 (GRCm39)	missense	probably damaging	0.97
R7269:Mcph1	UTSW	8	18,657,288 (GRCm39)	splice site	probably null
R7446:Mcph1	UTSW	8	18,721,109 (GRCm39)	missense	probably benign	0.00
R7455:Mcph1	UTSW	8	18,681,775 (GRCm39)	missense	probably benign	0.26
R7542:Mcph1	UTSW	8	18,681,705 (GRCm39)	missense	probably benign	0.03
R7640:Mcph1	UTSW	8	18,682,342 (GRCm39)	missense	probably benign	0.00
R7703:Mcph1	UTSW	8	18,721,122 (GRCm39)	missense	possibly damaging	0.82
R9045:Mcph1	UTSW	8	18,682,443 (GRCm39)	missense	probably benign	0.00
R9287:Mcph1	UTSW	8	18,657,293 (GRCm39)	critical splice acceptor site	probably null
RF002:Mcph1	UTSW	8	18,702,545 (GRCm39)	small insertion	probably benign
RF035:Mcph1	UTSW	8	18,702,541 (GRCm39)	small insertion	probably benign
RF059:Mcph1	UTSW	8	18,702,541 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCATTATAGCTACCTTACCTTGAGTC -3'
(R):5'- TGATCAGCAAGACCCTTCCC -3'

Sequencing Primer
(F):5'- CTGTATTTTGAAAAGAGAAGCAAGC -3'
(R):5'- CACCATCTGGATTCCTACCTAAG -3'

Posted On

2016-11-09