Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Mcph1'

262823

Institutional Source

Beutler Lab

Gene Symbol

Mcph1

Ensembl Gene

ENSMUSG00000039842

Gene Name

microcephaly, primary autosomal recessive 1

Synonyms

5430437K10Rik, D030046N04Rik, BRIT1

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18645147-18853205 bp(+) (GRCm39)

Type of Mutation

splice site (44 bp from exon)

DNA Base Change (assembly)

T to A at 18682703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000141244] [ENSMUST00000146819]

AlphaFold

Q7TT79

Predicted Effect

probably null
Transcript: ENSMUST00000039412

SMART Domains

Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124910

SMART Domains

Protein: ENSMUSP00000131698
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
BRCT	13	89	2.64e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000133417

SMART Domains

Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
Pfam:Microcephalin	136	256	2.4e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141244

SMART Domains

Protein: ENSMUSP00000119267
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
Blast:BRCT	2	38	2e-9	BLAST
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141244

SMART Domains

Protein: ENSMUSP00000119267
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
Blast:BRCT	2	38	2e-9	BLAST
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146819

SMART Domains

Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
BRCT	13	89	2.64e-4	SMART
coiled coil region	128	155	N/A	INTRINSIC
Pfam:Microcephalin	224	598	1.4e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153133

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,073,181 (GRCm39)	L326S	probably damaging	Het
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Chst8	T	A	7: 34,374,693 (GRCm39)	H382L	probably benign	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,518,278 (GRCm39)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,700,963 (GRCm39)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Wbp2	A	G	11: 115,977,708 (GRCm39)	V15A	probably benign	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (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
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
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

Posted On

2015-02-04