Incidental Mutation 'R4493:Mcph1'
ID 330833
Institutional Source Beutler Lab
Gene Symbol Mcph1
Ensembl Gene ENSMUSG00000039842
Gene Name microcephaly, primary autosomal recessive 1
Synonyms 5430437K10Rik, D030046N04Rik, BRIT1
MMRRC Submission 041748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4493 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 18645147-18853205 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 18681752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 296 (C296*)
Ref Sequence ENSEMBL: ENSMUSP00000131616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000146819]
AlphaFold Q7TT79
Predicted Effect probably null
Transcript: ENSMUST00000039412
AA Change: C296*
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: C296*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BRCT 13 89 2.64e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000133417
AA Change: C208*
SMART Domains Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842
AA Change: C208*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:BRCT 2 38 2e-9 BLAST
low complexity region 39 51 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146819
AA Change: C296*
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: C296*

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 94% (45/48)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1b T C 2: 24,542,950 (GRCm39) T1301A probably damaging Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Ccdc146 T C 5: 21,508,191 (GRCm39) E619G possibly damaging Het
Cfap91 T C 16: 38,162,130 (GRCm39) T4A probably benign Het
Cmya5 T C 13: 93,230,573 (GRCm39) E1505G probably benign Het
Cngb3 C A 4: 19,367,778 (GRCm39) P229Q probably damaging Het
Ctnna2 A G 6: 76,958,831 (GRCm39) V461A probably damaging Het
D430041D05Rik T C 2: 104,086,684 (GRCm39) D764G probably benign Het
Dgki T C 6: 36,951,796 (GRCm39) probably benign Het
Dhx36 A T 3: 62,395,925 (GRCm39) probably benign Het
Gcn1 T C 5: 115,732,203 (GRCm39) I1006T probably benign Het
Glt8d2 T A 10: 82,500,547 (GRCm39) M20L possibly damaging Het
Greb1 C A 12: 16,748,611 (GRCm39) G1122V probably benign Het
Hmcn1 A T 1: 150,577,650 (GRCm39) I2037N probably damaging Het
Hspa4l A G 3: 40,722,434 (GRCm39) I340V possibly damaging Het
Itpr3 A G 17: 27,323,586 (GRCm39) K1204E probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naga A G 15: 82,216,715 (GRCm39) F259S probably damaging Het
Nes A G 3: 87,884,120 (GRCm39) E793G probably damaging Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Pcdha4 A T 18: 37,087,644 (GRCm39) Y609F possibly damaging Het
Pgam1 C T 19: 41,904,215 (GRCm39) A104V possibly damaging Het
Piezo2 T C 18: 63,247,134 (GRCm39) I525V probably damaging Het
Pold1 A G 7: 44,187,132 (GRCm39) V683A probably damaging Het
Poteg T C 8: 27,970,125 (GRCm39) V316A possibly damaging Het
Ppih A T 4: 119,168,042 (GRCm39) N156K probably damaging Het
Prep T C 10: 44,996,915 (GRCm39) F398L probably benign Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Rtp4 A T 16: 23,428,827 (GRCm39) H30L probably benign Het
Stkld1 A G 2: 26,836,638 (GRCm39) N268S probably benign Het
Syt6 A G 3: 103,492,946 (GRCm39) E66G probably damaging Het
Tas2r129 A G 6: 132,928,317 (GRCm39) I85V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tprn T C 2: 25,158,904 (GRCm39) S643P probably damaging Het
Trrap T C 5: 144,767,858 (GRCm39) V2605A probably benign Het
Vmn1r230 T A 17: 21,066,863 (GRCm39) N17K probably benign Het
Xkrx T C X: 133,051,745 (GRCm39) N302S possibly damaging Het
Zfp946 T A 17: 22,670,067 (GRCm39) probably null Het
Other mutations in Mcph1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCAGATGAATCCTTTGCCAG -3'
(R):5'- AGATGAACCCAAGTCCGCTG -3'

Sequencing Primer
(F):5'- CGGTGATTCCTGTGGAGATCAAG -3'
(R):5'- GCCCTTTTTCTCTTTGCAGAAG -3'
Posted On 2015-07-21