Incidental Mutation 'R5125:Mcph1'
ID 393501
Institutional Source Beutler Lab
Gene Symbol Mcph1
Ensembl Gene ENSMUSG00000039842
Gene Name microcephaly, primary autosomal recessive 1
Synonyms 5430437K10Rik, D030046N04Rik, BRIT1
MMRRC Submission 042713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5125 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 18645147-18853205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18657342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
Ref Sequence ENSEMBL: ENSMUSP00000131698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000146819]
AlphaFold Q7TT79
Predicted Effect probably damaging
Transcript: ENSMUST00000039412
AA Change: D60E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: D60E

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 damaging
Transcript: ENSMUST00000124910
AA Change: D60E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131698
Gene: ENSMUSG00000039842
AA Change: D60E

DomainStartEndE-ValueType
BRCT 13 89 2.64e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146819
AA Change: D60E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: D60E

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 0.2379 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 96% (49/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G T 13: 23,606,819 (GRCm39) A94E possibly damaging Het
Carmil2 G T 8: 106,423,521 (GRCm39) G1207V probably damaging Het
Cyp2c66 A G 19: 39,159,473 (GRCm39) Y308C probably damaging Het
Dcc A G 18: 71,589,948 (GRCm39) F683L probably benign Het
Denr A T 5: 124,065,144 (GRCm39) I166F probably damaging Het
Dhx29 T G 13: 113,069,134 (GRCm39) S155A possibly damaging Het
Dsg1b G A 18: 20,530,560 (GRCm39) G405E probably damaging Het
Ei24 T A 9: 36,693,742 (GRCm39) probably benign Het
Exo5 A T 4: 120,778,734 (GRCm39) probably null Het
Gm7356 T C 17: 14,221,576 (GRCm39) D151G probably damaging Het
Grin1 T C 2: 25,186,839 (GRCm39) probably benign Het
Grin2b C T 6: 135,900,297 (GRCm39) V195M possibly damaging Het
Hephl1 T A 9: 14,997,468 (GRCm39) K399N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kmt2c A G 5: 25,489,379 (GRCm39) V4520A probably damaging Het
Lair1 G A 7: 4,013,488 (GRCm39) T82I possibly damaging Het
Lmx1a C T 1: 167,658,256 (GRCm39) S213L possibly damaging Het
Ly6g6d A G 17: 35,293,418 (GRCm39) I8T possibly damaging Het
Mcm4 T A 16: 15,453,167 (GRCm39) D174V probably benign Het
Med12l G A 3: 59,174,635 (GRCm39) G1851D possibly damaging Het
Or13c7b T A 4: 43,820,480 (GRCm39) I294F probably benign Het
Or7e174 T A 9: 20,012,488 (GRCm39) C144* probably null Het
P2rx2 G A 5: 110,490,517 (GRCm39) T66I possibly damaging Het
Pcdh15 A G 10: 74,419,912 (GRCm39) E1197G probably damaging Het
Pira1 T A 7: 3,742,396 (GRCm39) K44* probably null Het
Ppwd1 A T 13: 104,356,943 (GRCm39) S191T probably benign Het
Rbm39 A T 2: 156,004,785 (GRCm39) M184K probably damaging Het
Reln A G 5: 22,118,239 (GRCm39) V2935A possibly damaging Het
Robo4 T C 9: 37,319,256 (GRCm39) W535R probably damaging Het
Rsf1 A G 7: 97,311,079 (GRCm39) D603G possibly damaging Het
Sh3rf3 C G 10: 58,967,012 (GRCm39) P785A probably benign Het
Slc22a26 T C 19: 7,767,540 (GRCm39) T289A possibly damaging Het
Slc24a3 T C 2: 145,360,767 (GRCm39) V120A possibly damaging Het
Sost C T 11: 101,854,767 (GRCm39) G181R probably damaging Het
Sp2 A G 11: 96,846,664 (GRCm39) F554L probably benign Het
Stim2 T C 5: 54,267,939 (GRCm39) S87P probably damaging Het
Tecta T C 9: 42,286,481 (GRCm39) D725G probably damaging Het
Trgc4 A G 13: 19,528,932 (GRCm39) probably benign Het
Ube4b T C 4: 149,427,449 (GRCm39) M900V probably damaging Het
Ugt2b38 A G 5: 87,559,671 (GRCm39) M407T probably damaging Het
Vmn1r87 G T 7: 12,865,792 (GRCm39) A165E possibly damaging Het
Zc3h6 A G 2: 128,856,399 (GRCm39) H493R possibly damaging Het
Zfhx2 A T 14: 55,312,232 (GRCm39) F154Y probably benign Het
Zfp729a A G 13: 67,785,764 (GRCm39) probably null Het
Zfp976 A G 7: 42,261,925 (GRCm39) probably null Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Znfx1 A T 2: 166,888,859 (GRCm39) V783E possibly damaging 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
R4493:Mcph1 UTSW 8 18,681,752 (GRCm39) nonsense probably null
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
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'- ACTGCAGCAGCTCTACTTGG -3'
(R):5'- TTCCTGCACGGCAAGTCTAC -3'

Sequencing Primer
(F):5'- TGAAACAGGCTCTCACTGTG -3'
(R):5'- CACGGCAAGTCTACTGAATGTTG -3'
Posted On 2016-06-15