|Institutional Source||Beutler Lab|
|Gene Name||microcephaly, primary autosomal recessive 1|
|Synonyms||BRIT1, D030046N04Rik, 5430437K10Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1574 (G1)|
|Chromosomal Location||18595131-18803189 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 18801412 bp|
|Amino Acid Change||Isoleucine to Threonine at position 807 (I807T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037000 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039412]|
|Predicted Effect||probably damaging
AA Change: I807T
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: I807T
|Coding Region Coverage||
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||
|Other mutations in Mcph1||
(F):5'- TGAGACTATGGAGAGCTCTGAAAC -3'
(R):5'- TGCTGGTCAAGACTTCTCTG -3'
(F):5'- TCATAACAGAGCAGTGGTGGTGC -3'
(R):5'- GATGTAGTTCCACAGTACAGTGC -3'