Incidental Mutation 'IGL00816:Mcph1'
ID13607
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 #IGL00816
Quality Score
Status
Chromosome8
Chromosomal Location18595131-18803189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18632397 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 517 (P517S)
Ref Sequence ENSEMBL: ENSMUSP00000131616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000146819]
Predicted Effect probably benign
Transcript: ENSMUST00000039412
AA Change: P517S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: P517S

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 benign
Transcript: ENSMUST00000133417
SMART Domains Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842

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 possibly damaging
Transcript: ENSMUST00000146819
AA Change: P517S

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: P517S

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,397,203 D5654E probably benign Het
Alg6 A G 4: 99,742,361 S146G probably null Het
Anks1 T C 17: 28,059,393 probably null Het
Bcor T C X: 12,037,820 I1662V probably damaging Het
Bzw1 T C 1: 58,399,054 F98L probably damaging Het
Cdc14b A G 13: 64,205,403 V453A probably benign Het
Copg1 G T 6: 87,893,898 A228S possibly damaging Het
D1Pas1 A G 1: 186,969,412 I513V possibly damaging Het
Efemp1 G A 11: 28,926,223 V463M probably benign Het
Ep400 T A 5: 110,735,490 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fgd3 A G 13: 49,264,786 probably benign Het
Furin C A 7: 80,392,567 G427W probably damaging Het
Glycam1 T G 15: 103,564,232 D25A probably damaging Het
Gpr119 A G X: 48,674,170 L30P probably damaging Het
Gria1 T A 11: 57,317,742 M752K possibly damaging Het
Mug1 T A 6: 121,882,638 Y1199N probably damaging Het
Myt1 A G 2: 181,807,515 D663G probably damaging Het
Ppp1r1c A T 2: 79,709,897 probably null Het
Rab1a C T 11: 20,224,727 T100M possibly damaging Het
Rfx6 A G 10: 51,678,405 K114R probably benign Het
Rmdn1 T C 4: 19,595,119 V177A probably benign Het
Setd5 T G 6: 113,111,414 L168V probably damaging Het
Slc25a10 A T 11: 120,495,150 probably benign Het
Slc38a7 A T 8: 95,844,120 I252N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Taar8c A T 10: 24,101,275 I213N probably damaging Het
Tagln3 A T 16: 45,724,193 C38* probably null Het
Tmcc2 C A 1: 132,380,698 A153S probably benign Het
Tuft1 A T 3: 94,615,831 I291N probably damaging Het
Vmn2r10 T A 5: 109,002,585 M198L possibly damaging Het
Vps13d T A 4: 145,155,994 M1004L probably benign Het
Wfdc3 T C 2: 164,743,025 probably benign Het
Wfikkn2 G A 11: 94,238,095 Q407* probably null Het
Zfp106 T C 2: 120,526,848 I1189V probably benign Het
Zic2 T A 14: 122,478,559 C364* probably null Het
Other mutations in Mcph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Mcph1 APN 8 18632620 missense possibly damaging 0.95
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
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
R6590:Mcph1 UTSW 8 18668967 missense probably damaging 0.97
Posted On2012-12-06