Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Mcph1'

20803

Institutional Source

Beutler Lab

Gene Symbol

Mcph1

Ensembl Gene

ENSMUSG00000039842

Gene Name

microcephaly, primary autosomal recessive 1

Synonyms

5430437K10Rik, D030046N04Rik, BRIT1

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

18645147-18853205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18838264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 729 (L729F)

Ref Sequence

ENSEMBL: ENSMUSP00000037000 (fasta)

Gene Model

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

AlphaFold

Q7TT79

Predicted Effect

probably benign
Transcript: ENSMUST00000039412
AA Change: L729F

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: L729F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,770,656 (GRCm39)	V418I	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Heg1	A	G	16: 33,556,028 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Mus81	G	T	19: 5,536,552 (GRCm39)	A138D	probably damaging	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Prss12	T	C	3: 123,276,423 (GRCm39)	C351R	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,603,344 (GRCm39)	S165N	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	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
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
R5655:Mcph1	UTSW	8	18,838,326 (GRCm39)	missense	probably benign	0.02
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'- AACCATGAGCCAAGAGAAAGCTCTG -3'
(R):5'- TGATCAGCAAGACCCTTCCCTATCC -3'

Sequencing Primer
(F):5'- gagaaagctctggtggtatttaac -3'
(R):5'- GACCCATTTCTCTGACAGGTACTG -3'

Posted On

2013-04-11