Incidental Mutation 'R5621:Mcph1'
ID 441566
Institutional Source Beutler Lab
Gene Symbol Mcph1
Ensembl Gene ENSMUSG00000039842
Gene Name microcephaly, primary autosomal recessive 1
Synonyms 5430437K10Rik, D030046N04Rik, BRIT1
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 18645147-18853205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18682186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 441 (E441G)
Ref Sequence ENSEMBL: ENSMUSP00000037000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000146819]
AlphaFold Q7TT79
Predicted Effect probably damaging
Transcript: ENSMUST00000039412
AA Change: E441G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: E441G

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 probably damaging
Transcript: ENSMUST00000146819
AA Change: E441G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: E441G

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 0.1035 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably 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
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
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'- TACAAGAGAAAGTCTGCTCTGG -3'
(R):5'- TGTCGTTAGCAGAGGTCTCC -3'

Sequencing Primer
(F):5'- GTTATTCAAGTCCGACCAGAGC -3'
(R):5'- GTTAGCAGAGGTCTCCACCAAAAG -3'
Posted On 2016-11-08