Incidental Mutation 'IGL01674:Mcph1'
ID103595
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 #IGL01674
Quality Score
Status
Chromosome8
Chromosomal Location18595131-18803189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18631519 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 224 (E224G)
Ref Sequence ENSEMBL: ENSMUSP00000037000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000146819]
Predicted Effect probably damaging
Transcript: ENSMUST00000039412
AA Change: E224G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: E224G

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 damaging
Transcript: ENSMUST00000133417
AA Change: E136G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842
AA Change: E136G

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 damaging
Transcript: ENSMUST00000146819
AA Change: E224G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: E224G

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
Arhgef39 A G 4: 43,497,590 L222P probably damaging Het
Art3 T A 5: 92,403,614 Y17* probably null Het
Cadps2 A G 6: 23,355,852 L859P probably damaging Het
Celsr2 A G 3: 108,414,843 Y218H probably damaging Het
Ces5a A G 8: 93,502,219 V461A probably damaging Het
Clic4 C A 4: 135,238,893 V51L probably benign Het
Col6a3 A G 1: 90,802,514 L1083P probably damaging Het
Cul5 T C 9: 53,635,007 E328G probably damaging Het
Erap1 T C 13: 74,664,231 probably benign Het
Fn1 G A 1: 71,606,741 P1527L probably damaging Het
Gm20547 T A 17: 34,881,655 Q63L probably benign Het
Gm5089 T C 14: 122,436,163 T49A unknown Het
Ippk T C 13: 49,449,264 L362S probably damaging Het
Krt23 T C 11: 99,486,767 M138V probably benign Het
Magi3 A G 3: 104,105,721 probably benign Het
Mcc T A 18: 44,491,156 I266F probably benign Het
Neurod4 A T 10: 130,271,018 L129H probably damaging Het
Olfr1097 T C 2: 86,890,749 Y142C probably benign Het
Olfr1230 T A 2: 89,296,670 N200I probably damaging Het
Olfr126 T A 17: 37,609,962 D263V probably damaging Het
Olfr1449 T C 19: 12,935,562 S275P probably damaging Het
Piezo2 A T 18: 63,027,559 I2342N probably damaging Het
Pnpt1 A G 11: 29,155,787 Q632R probably benign Het
Ppp2r2c T C 5: 36,940,226 M252T possibly damaging Het
Ppp4r2 A G 6: 100,864,683 N142D possibly damaging Het
Prex2 G T 1: 11,170,741 K1024N probably damaging Het
Rimklb T A 6: 122,459,170 I150F probably damaging Het
Slco4c1 T C 1: 96,842,493 Q282R probably damaging Het
Tmem92 T C 11: 94,778,693 E148G probably damaging Het
Traf7 T C 17: 24,510,375 probably benign Het
Ubr5 G A 15: 37,998,379 T1622M probably damaging Het
Vmn1r5 T A 6: 56,985,926 S195R probably damaging Het
Vmn2r67 C T 7: 85,136,443 V785I probably damaging Het
Ythdc2 G A 18: 44,860,404 D839N probably benign Het
Zfp184 T C 13: 21,950,225 probably benign Het
Zfp654 T C 16: 64,784,641 N525S probably benign 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
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 On2014-01-21