Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01788:Mcph1'

155143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcph1

Ensembl Gene

ENSMUSG00000039842

Gene Name

microcephaly, primary autosomal recessive 1

Synonyms

BRIT1, D030046N04Rik, 5430437K10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

18595131-18803189 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18632403 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 519 (G519R)

Ref Sequence

ENSEMBL: ENSMUSP00000131616 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039412
AA Change: G519R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: G519R

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 benign
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 benign
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 damaging
Transcript: ENSMUST00000146819
AA Change: G519R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: G519R

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 51,091,715		noncoding transcript	Het
Acp6	A	G	3: 97,165,882	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,344,923	T102A	probably benign	Het
Adcy6	C	A	15: 98,596,519	E812*	probably null	Het
Apol6	G	A	15: 77,051,016	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,149,983	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,629,188	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,655,390	V869A	probably benign	Het
Dcaf5	A	T	12: 80,348,324	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,842,621	I165V	probably benign	Het
Dlgap2	T	A	8: 14,843,631	I982K	probably benign	Het
Dopey1	A	T	9: 86,531,719	H1891L	probably benign	Het
Fhad1	A	C	4: 141,932,802	S65R	probably benign	Het
Fn1	A	G	1: 71,613,837	I1331T	probably damaging	Het
Fto	A	T	8: 91,409,731	Y211F	probably benign	Het
Gm3278	A	C	14: 4,893,332	R60S	probably benign	Het
Ifna9	A	G	4: 88,591,860	S176P	probably damaging	Het
Klk1	T	C	7: 44,228,983	I189T	probably benign	Het
N4bp1	A	T	8: 86,860,996	V438E	probably benign	Het
Ncapg	T	A	5: 45,671,081	V58E	probably damaging	Het
Nid2	T	A	14: 19,807,979	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,454,067	Y681F	probably benign	Het
Olfr1308	T	C	2: 111,961,007	D22G	probably benign	Het
Olfr1442	G	A	19: 12,675,078	R291K	probably damaging	Het
Olfr603	C	A	7: 103,383,563	M146I	probably benign	Het
Olfr726	A	G	14: 50,084,502	Y60H	probably damaging	Het
Papln	A	T	12: 83,775,462	T364S	probably benign	Het
Pcdh18	C	A	3: 49,755,922	E315*	probably null	Het
Pmel	G	A	10: 128,717,832	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,893,507	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,900,987	T541A	probably damaging	Het
Rbl1	A	T	2: 157,163,656	N813K	probably benign	Het
Sash1	C	A	10: 8,733,646	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,372	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,826,001	E407D	probably damaging	Het
Slc2a6	G	A	2: 27,024,215	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,805,662	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,265,537	H122N	probably benign	Het
Wfs1	A	G	5: 36,968,636	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,588,763	S445P	possibly damaging	Het

Other mutations in Mcph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Mcph1	APN	8	18632620	missense	possibly damaging	0.95
IGL00816:Mcph1	APN	8	18632397	missense	possibly damaging	0.59
IGL01432:Mcph1	APN	8	18625639	missense	probably damaging	0.99
IGL01674:Mcph1	APN	8	18631519	missense	probably damaging	1.00
IGL01746:Mcph1	APN	8	18671127	missense	probably damaging	1.00
IGL01788:Mcph1	APN	8	18632404	missense	probably damaging	1.00
IGL02185:Mcph1	APN	8	18668990	splice site	probably benign
IGL02677:Mcph1	APN	8	18625593	missense	probably damaging	1.00
IGL03376:Mcph1	APN	8	18596973	missense	probably damaging	0.99
PIT4514001:Mcph1	UTSW	8	18631890	missense	probably damaging	0.99
R0116:Mcph1	UTSW	8	18788248	missense	probably benign	0.06
R0189:Mcph1	UTSW	8	18788471	missense	probably damaging	0.96
R1510:Mcph1	UTSW	8	18632687	intron	probably null
R1547:Mcph1	UTSW	8	18622686	missense	possibly damaging	0.65
R1574:Mcph1	UTSW	8	18801412	missense	probably damaging	0.99
R1574:Mcph1	UTSW	8	18801412	missense	probably damaging	0.99
R1733:Mcph1	UTSW	8	18631963	missense	probably benign	0.18
R1742:Mcph1	UTSW	8	18607363	missense	probably benign	0.03
R1975:Mcph1	UTSW	8	18689065	splice site	probably benign
R3836:Mcph1	UTSW	8	18622659	missense	possibly damaging	0.91
R4405:Mcph1	UTSW	8	18632541	missense	probably benign	0.00
R4493:Mcph1	UTSW	8	18631736	nonsense	probably null
R4824:Mcph1	UTSW	8	18632687	intron	probably null
R4873:Mcph1	UTSW	8	18625558	critical splice acceptor site	probably null
R4875:Mcph1	UTSW	8	18625558	critical splice acceptor site	probably null
R5125:Mcph1	UTSW	8	18607326	missense	probably damaging	0.98
R5178:Mcph1	UTSW	8	18607326	missense	probably damaging	0.98
R5217:Mcph1	UTSW	8	18788473	missense	probably damaging	0.99
R5233:Mcph1	UTSW	8	18671238	missense	probably damaging	0.96
R5299:Mcph1	UTSW	8	18652580	intron	probably benign
R5335:Mcph1	UTSW	8	18689061	critical splice donor site	probably null
R5579:Mcph1	UTSW	8	18632293	missense	probably benign	0.18
R5621:Mcph1	UTSW	8	18632170	missense	probably damaging	1.00
R5655:Mcph1	UTSW	8	18788310	missense	probably benign	0.02
R5721:Mcph1	UTSW	8	18671207	missense	probably damaging	0.99
R6076:Mcph1	UTSW	8	18631999	missense	probably benign	0.40
R6592:Mcph1	UTSW	8	18668967	missense	probably damaging	0.97
R7269:Mcph1	UTSW	8	18607272	splice site	probably null
R7446:Mcph1	UTSW	8	18671093	missense	probably benign	0.00
R7455:Mcph1	UTSW	8	18631759	missense	probably benign	0.26
R7542:Mcph1	UTSW	8	18631689	missense	probably benign	0.03
R7640:Mcph1	UTSW	8	18632326	missense	probably benign	0.00
R7703:Mcph1	UTSW	8	18671106	missense	possibly damaging	0.82
RF002:Mcph1	UTSW	8	18652529	small insertion	probably benign
RF035:Mcph1	UTSW	8	18652525	small insertion	probably benign
RF059:Mcph1	UTSW	8	18652525	small insertion	probably benign

Posted On

2014-02-04