Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Mcph1'

602563

Institutional Source

Beutler Lab

Gene Symbol

Mcph1

Ensembl Gene

ENSMUSG00000039842

Gene Name

microcephaly, primary autosomal recessive 1

Synonyms

BRIT1, D030046N04Rik, 5430437K10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

139.467

Status

Not validated

Chromosome

Chromosomal Location

18595131-18803189 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CCTG to CCTGCTG at 18652529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119267 (fasta)

Gene Model

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

AlphaFold

Q7TT79

Predicted Effect

probably benign
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 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably 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	18632403	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	splice site	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	splice site	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
R9045:Mcph1	UTSW	8	18632427	missense	probably benign	0.00
R9287:Mcph1	UTSW	8	18607277	critical splice acceptor site	probably null
RF035:Mcph1	UTSW	8	18652525	small insertion	probably benign
RF059:Mcph1	UTSW	8	18652525	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAATCTGGCTACGGGAAG -3'
(R):5'- AAGAGGTCTTGACTGCCATC -3'

Sequencing Primer
(F):5'- AGCCTGAATAGTACCCTGTGG -3'
(R):5'- TCAAGGGCCAAAGGACTTTAAC -3'

Posted On

2019-12-04