Incidental Mutation 'IGL02185:Mcph1'
ID283610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcph1
Ensembl Gene ENSMUSG00000039842
Gene Namemicrocephaly, primary autosomal recessive 1
SynonymsBRIT1, D030046N04Rik, 5430437K10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02185
Quality Score
Status
Chromosome8
Chromosomal Location18595131-18803189 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 18668990 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910]
Predicted Effect probably benign
Transcript: ENSMUST00000039412
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842

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 noncoding transcript
Transcript: ENSMUST00000138744
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,197,046 W340R probably damaging Het
Adh5 A G 3: 138,451,054 D167G probably benign Het
Cand2 G A 6: 115,789,510 A359T probably benign Het
Cnnm2 T C 19: 46,762,995 V408A probably benign Het
Eloa A G 4: 136,012,979 probably benign Het
Ern2 T C 7: 122,173,375 probably benign Het
Hs6st3 A G 14: 119,868,884 probably null Het
Hydin A T 8: 110,506,476 I1736F possibly damaging Het
Ifrd2 A T 9: 107,591,091 I253F probably benign Het
Kctd7 G A 5: 130,152,458 V241I possibly damaging Het
Lcp1 T C 14: 75,229,300 F616L possibly damaging Het
Lyst C T 13: 13,661,093 Q1787* probably null Het
Mapkbp1 A T 2: 120,014,663 T342S possibly damaging Het
Mctp2 T C 7: 72,080,823 H868R probably benign Het
Mefv T C 16: 3,715,850 T186A probably benign Het
Nol9 T A 4: 152,057,911 I666N probably damaging Het
Olfr145 A C 9: 37,898,235 Y277S probably damaging Het
Olfr574 T A 7: 102,948,514 N16K probably damaging Het
Olfr775 G T 10: 129,251,035 C167F possibly damaging Het
Pum2 T C 12: 8,748,955 probably null Het
Rpgrip1 A C 14: 52,112,228 K24N possibly damaging Het
Ryr3 T A 2: 112,967,203 T122S probably damaging Het
Sfn A G 4: 133,601,325 S149P probably benign Het
Slc27a2 T A 2: 126,567,816 V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 V81A probably benign Het
Trav21-dv12 A T 14: 53,876,498 D25V probably benign Het
Ttn T C 2: 76,768,534 H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 Y49N probably benign Het
Ulk2 C T 11: 61,782,060 A903T probably damaging Het
Vmn2r77 G A 7: 86,795,152 M4I unknown Het
Vmn2r85 G T 10: 130,418,692 L708I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vrk2 T A 11: 26,535,638 R117* probably null Het
Xpo6 A T 7: 126,113,808 probably benign Het
Zdhhc14 C A 17: 5,752,882 T420K probably benign Het
Zfp334 G T 2: 165,386,949 probably benign Het
Zfp958 T A 8: 4,628,990 C338* probably null Het
Other mutations in Mcph1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2015-04-16