Incidental Mutation 'R4824:Mcph1'
ID 374565
Institutional Source Beutler Lab
Gene Symbol Mcph1
Ensembl Gene ENSMUSG00000039842
Gene Name microcephaly, primary autosomal recessive 1
Synonyms 5430437K10Rik, D030046N04Rik, BRIT1
MMRRC Submission 042440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4824 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 18645147-18853205 bp(+) (GRCm39)
Type of Mutation splice site (44 bp from exon)
DNA Base Change (assembly) T to A at 18682703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000133417] [ENSMUST00000141244] [ENSMUST00000141244] [ENSMUST00000146819]
AlphaFold Q7TT79
Predicted Effect probably null
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 probably null
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 null
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 null
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 benign
Transcript: ENSMUST00000146819
SMART Domains Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (123/126)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,437 (GRCm39) T209A probably benign Het
1700086D15Rik T C 11: 65,043,441 (GRCm39) probably benign Het
A130010J15Rik G A 1: 192,856,965 (GRCm39) V106I probably benign Het
Abca16 C A 7: 120,074,702 (GRCm39) N580K possibly damaging Het
Actrt2 A T 4: 154,751,344 (GRCm39) F264Y probably damaging Het
Adh4 G A 3: 138,134,807 (GRCm39) S327N possibly damaging Het
Alkbh5 T C 11: 60,444,697 (GRCm39) probably null Het
Anapc1 T A 2: 128,470,610 (GRCm39) T1507S possibly damaging Het
Anapc2 A G 2: 25,167,764 (GRCm39) R444G probably damaging Het
Apoh G T 11: 108,305,087 (GRCm39) W335L probably benign Het
B4galt7 A T 13: 55,752,162 (GRCm39) H71L possibly damaging Het
Bicd2 A G 13: 49,532,488 (GRCm39) E358G probably damaging Het
Bmper T A 9: 23,134,956 (GRCm39) V7D possibly damaging Het
Brca2 T C 5: 150,463,200 (GRCm39) F988S probably damaging Het
Brix1 A G 15: 10,485,828 (GRCm39) V49A possibly damaging Het
Brpf3 T C 17: 29,025,460 (GRCm39) S178P probably benign Het
Btaf1 A G 19: 36,958,448 (GRCm39) Y655C possibly damaging Het
C1rl C G 6: 124,486,040 (GRCm39) Y470* probably null Het
Cacnb4 A G 2: 52,565,822 (GRCm39) V21A probably benign Het
Caskin1 C A 17: 24,720,103 (GRCm39) P437T probably benign Het
Casz1 C A 4: 149,029,028 (GRCm39) P1158T probably damaging Het
Ccdc141 T A 2: 76,954,680 (GRCm39) Q189L probably damaging Het
Ccr3 T C 9: 123,828,809 (GRCm39) V48A probably damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cert1 C T 13: 96,752,995 (GRCm39) P350S probably benign Het
Cfap20dc A T 14: 8,665,997 (GRCm38) M1K probably null Het
Chd1 C A 17: 15,953,386 (GRCm39) S440R probably damaging Het
Clip1 T A 5: 123,769,086 (GRCm39) E504D probably damaging Het
Cmya5 T C 13: 93,230,082 (GRCm39) R1669G probably benign Het
Col11a2 T A 17: 34,269,937 (GRCm39) F456I probably damaging Het
Ctnna2 A T 6: 76,957,764 (GRCm39) M130K probably damaging Het
Elmo2 A T 2: 165,133,922 (GRCm39) probably benign Het
F11 T C 8: 45,708,379 (GRCm39) D27G probably damaging Het
Faap100 A T 11: 120,266,412 (GRCm39) probably null Het
Fat1 A G 8: 45,442,151 (GRCm39) E1151G probably damaging Het
Fbll1 T A 11: 35,688,652 (GRCm39) I204F probably damaging Het
Gle1 T A 2: 29,830,215 (GRCm39) V257D possibly damaging Het
Hoxc9 T A 15: 102,890,225 (GRCm39) C47* probably null Het
Hsd17b6 A G 10: 127,829,524 (GRCm39) V226A probably benign Het
Hsd17b7 C T 1: 169,788,764 (GRCm39) R151Q probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ido2 A G 8: 25,023,875 (GRCm39) I321T probably benign Het
Irf2bp2 T C 8: 127,318,172 (GRCm39) T465A probably benign Het
Kdm2a A G 19: 4,412,815 (GRCm39) M34T probably damaging Het
Klhl6 C T 16: 19,775,778 (GRCm39) R260H probably damaging Het
Kntc1 T A 5: 123,928,196 (GRCm39) L1231* probably null Het
Lca5l A C 16: 95,963,229 (GRCm39) Y412* probably null Het
Lipt1 T C 1: 37,914,513 (GRCm39) S190P possibly damaging Het
Ly6f T A 15: 75,143,569 (GRCm39) V92D probably damaging Het
Matn4 T A 2: 164,235,151 (GRCm39) M433L probably benign Het
Mbtd1 C A 11: 93,816,528 (GRCm39) P370T probably benign Het
Muc5b T A 7: 141,417,922 (GRCm39) C3623S probably damaging Het
Myt1l C A 12: 29,899,399 (GRCm39) H134N probably benign Het
Nav2 A T 7: 49,058,749 (GRCm39) probably benign Het
Ndufaf8 T C 11: 119,989,992 (GRCm39) C35R probably damaging Het
Neb G A 2: 52,094,891 (GRCm39) T5130I possibly damaging Het
Nlrp9c T C 7: 26,079,989 (GRCm39) N624S possibly damaging Het
Nr0b2 C A 4: 133,283,334 (GRCm39) H190Q probably damaging Het
Nrg4 A G 9: 55,156,405 (GRCm39) probably benign Het
Nup88 A T 11: 70,852,450 (GRCm39) V215E probably benign Het
Oas2 T G 5: 120,876,411 (GRCm39) T511P probably benign Het
Or1e25 A G 11: 73,493,426 (GRCm39) T7A possibly damaging Het
Or2t6 A G 14: 14,175,885 (GRCm38) S66P probably damaging Het
Or5d14 A C 2: 87,880,432 (GRCm39) F179V probably damaging Het
Or5w8 T C 2: 87,687,621 (GRCm39) V34A probably benign Het
Or8g26 A G 9: 39,095,501 (GRCm39) N9S probably benign Het
Or9q1 A C 19: 13,805,718 (GRCm39) L14R probably damaging Het
Pcdhgb2 T A 18: 37,823,502 (GRCm39) N164K probably damaging Het
Pde4d C G 13: 109,253,400 (GRCm39) P76A probably benign Het
Phlda1 T C 10: 111,343,516 (GRCm39) probably benign Het
Plekhh1 A G 12: 79,101,577 (GRCm39) T216A probably benign Het
Plppr3 T A 10: 79,701,507 (GRCm39) E445V possibly damaging Het
Prom1 A G 5: 44,191,732 (GRCm39) V337A probably damaging Het
Prr14l T C 5: 33,001,743 (GRCm39) probably benign Het
Psmd1 A G 1: 86,064,820 (GRCm39) I951V probably benign Het
Rab35 T G 5: 115,781,454 (GRCm39) I85M possibly damaging Het
Rad9a A T 19: 4,250,536 (GRCm39) S93T probably benign Het
Ric1 G A 19: 29,563,242 (GRCm39) C555Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror2 T A 13: 53,264,719 (GRCm39) Q791L probably benign Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Sdr16c5 C T 4: 4,016,216 (GRCm39) W70* probably null Het
Senp3 A G 11: 69,568,821 (GRCm39) V408A probably benign Het
Sh2d4b C A 14: 40,562,301 (GRCm39) W288L probably benign Het
Slc38a9 A T 13: 112,859,832 (GRCm39) D422V probably damaging Het
Slc4a2 T C 5: 24,645,141 (GRCm39) F1104L probably damaging Het
Slc4a3 A G 1: 75,527,267 (GRCm39) K113E possibly damaging Het
Spata3 G A 1: 85,952,048 (GRCm39) probably null Het
Spata31d1d A T 13: 59,877,055 (GRCm39) V160E possibly damaging Het
Sprr2f A G 3: 92,273,203 (GRCm39) M1V probably null Het
Sptbn1 A G 11: 30,068,295 (GRCm39) V1733A possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tardbp A G 4: 148,702,050 (GRCm39) I295T probably benign Het
Tmem212 A G 3: 27,939,157 (GRCm39) S110P probably damaging Het
Tnc G A 4: 63,935,857 (GRCm39) Q360* probably null Het
Tnrc6c C A 11: 117,613,731 (GRCm39) Q630K probably damaging Het
Ttc19 G A 11: 62,199,922 (GRCm39) R235H probably benign Het
Ube3b T A 5: 114,553,787 (GRCm39) probably null Het
Vmn2r31 C T 7: 7,390,062 (GRCm39) probably null Het
Vmn2r92 T A 17: 18,372,183 (GRCm39) probably benign Het
Washc5 A T 15: 59,205,485 (GRCm39) Y685* probably null Het
Wdr93 T A 7: 79,399,817 (GRCm39) Y135* probably null Het
Wdr95 T A 5: 149,518,797 (GRCm39) I546K probably damaging Het
Zbtb38 T A 9: 96,570,254 (GRCm39) T277S probably benign Het
Zfp13 T C 17: 23,795,797 (GRCm39) D258G possibly damaging Het
Zfp397 T A 18: 24,093,249 (GRCm39) S245T probably benign Het
Zfp646 T C 7: 127,482,907 (GRCm39) Y1695H probably benign 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
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
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'- AACCAGAGACCCAGGTGATG -3'
(R):5'- TCCACTAGGACAAAGCCTGG -3'

Sequencing Primer
(F):5'- TGATGGAAAAGGCTCCCCC -3'
(R):5'- ACAAAGCCTGGGGAGGTATTTTC -3'
Posted On 2016-03-16