Incidental Mutation 'R5821:M1ap'
ID 449936
Institutional Source Beutler Lab
Gene Symbol M1ap
Ensembl Gene ENSMUSG00000030041
Gene Name meiosis 1 associated protein
Synonyms D6Mm5e
MMRRC Submission 043401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5821 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 82923889-83007290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82945083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 126 (Y126H)
Ref Sequence ENSEMBL: ENSMUSP00000109613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113980]
AlphaFold Q9Z0E1
Predicted Effect probably benign
Transcript: ENSMUST00000113980
AA Change: Y126H

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: Y126H

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 239 250 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 482 500 N/A INTRINSIC
low complexity region 504 512 N/A INTRINSIC
Meta Mutation Damage Score 0.1334 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility with oligospermia, globozooaspermiam decreased testies weight and size, degeneration of seminiferous tubules, male germ cell apoptosis and arrested male meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,686,458 (GRCm39) V278D possibly damaging Het
Acacb A G 5: 114,322,167 (GRCm39) D227G possibly damaging Het
Akap9 A G 5: 4,096,064 (GRCm39) E2313G probably benign Het
Cchcr1 A T 17: 35,839,745 (GRCm39) E564D probably damaging Het
Cers2 G A 3: 95,229,008 (GRCm39) probably benign Het
Cfap161 A G 7: 83,425,188 (GRCm39) I301T probably benign Het
Ciita A T 16: 10,329,669 (GRCm39) E648V possibly damaging Het
Cir1 C T 2: 73,142,804 (GRCm39) C10Y probably damaging Het
Clasp1 T A 1: 118,518,214 (GRCm39) F1087I probably damaging Het
Cped1 C A 6: 22,138,681 (GRCm39) F415L probably benign Het
Dnah7b A G 1: 46,181,292 (GRCm39) T1060A possibly damaging Het
Epha5 G T 5: 84,232,587 (GRCm39) P809H probably damaging Het
Fuca1 T A 4: 135,650,273 (GRCm39) probably null Het
Galnt2l A T 8: 123,627,372 (GRCm39) *98R probably null Het
Gm26796 G A 12: 80,805,564 (GRCm39) R237C unknown Het
Idua A G 5: 108,827,600 (GRCm39) Y138C probably benign Het
Ighd A T 12: 113,373,253 (GRCm39) L240H probably benign Het
Ing2 C G 8: 48,121,861 (GRCm39) C229S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kctd8 A T 5: 69,267,828 (GRCm39) N427K probably benign Het
Kif16b T C 2: 142,544,586 (GRCm39) E1147G probably damaging Het
Kif18a G A 2: 109,120,190 (GRCm39) probably benign Het
Krt82 T A 15: 101,456,820 (GRCm39) R187* probably null Het
Lrrk2 T C 15: 91,593,593 (GRCm39) probably null Het
Mmel1 A G 4: 154,970,044 (GRCm39) N226D possibly damaging Het
Mtmr11 A G 3: 96,075,185 (GRCm39) D353G possibly damaging Het
Nfkbia A T 12: 55,538,005 (GRCm39) H149Q probably damaging Het
Nr5a1 A T 2: 38,598,511 (GRCm39) F95L probably damaging Het
Nutm2 A G 13: 50,623,891 (GRCm39) Y196C probably benign Het
Oxtr A G 6: 112,466,457 (GRCm39) I101T probably damaging Het
Pcsk2 T A 2: 143,591,035 (GRCm39) probably null Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Pign A G 1: 105,516,788 (GRCm39) W585R possibly damaging Het
Pomgnt1 A G 4: 116,012,933 (GRCm39) S407G probably benign Het
Ppfia3 G A 7: 45,003,040 (GRCm39) T372I probably damaging Het
Prrc2b A T 2: 32,102,144 (GRCm39) E739V probably damaging Het
Ro60 A G 1: 143,642,503 (GRCm39) V209A probably benign Het
Scn7a T C 2: 66,574,047 (GRCm39) E192G probably damaging Het
Slmap T C 14: 26,183,435 (GRCm39) D316G probably damaging Het
Smim8 GGTTTAATGAAGAG GG 4: 34,771,259 (GRCm39) probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tgm2 T A 2: 157,984,974 (GRCm39) Y44F possibly damaging Het
Tmc8 C A 11: 117,683,455 (GRCm39) S670* probably null Het
Tmem145 A G 7: 25,014,946 (GRCm39) D523G probably benign Het
Vmn2r115 G A 17: 23,566,937 (GRCm39) G483E probably damaging Het
Other mutations in M1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:M1ap APN 6 82,933,646 (GRCm39) missense probably damaging 1.00
IGL01511:M1ap APN 6 83,005,393 (GRCm39) missense probably benign 0.00
IGL01803:M1ap APN 6 82,982,565 (GRCm39) missense probably benign 0.01
IGL02243:M1ap APN 6 83,003,269 (GRCm39) missense probably damaging 1.00
R1799:M1ap UTSW 6 82,982,491 (GRCm39) nonsense probably null
R2073:M1ap UTSW 6 82,958,863 (GRCm39) missense probably benign 0.05
R2074:M1ap UTSW 6 82,958,863 (GRCm39) missense probably benign 0.05
R2355:M1ap UTSW 6 82,933,484 (GRCm39) missense probably benign 0.00
R4063:M1ap UTSW 6 82,980,756 (GRCm39) missense probably damaging 1.00
R5024:M1ap UTSW 6 83,005,339 (GRCm39) unclassified probably benign
R5029:M1ap UTSW 6 82,980,813 (GRCm39) missense probably damaging 1.00
R5564:M1ap UTSW 6 82,958,798 (GRCm39) missense probably damaging 1.00
R5740:M1ap UTSW 6 82,958,903 (GRCm39) missense probably damaging 0.96
R5860:M1ap UTSW 6 82,980,795 (GRCm39) missense probably damaging 1.00
R6190:M1ap UTSW 6 82,980,877 (GRCm39) missense possibly damaging 0.60
R6773:M1ap UTSW 6 82,945,061 (GRCm39) missense probably damaging 1.00
R7350:M1ap UTSW 6 82,958,930 (GRCm39) missense probably benign 0.38
R7736:M1ap UTSW 6 82,982,565 (GRCm39) missense probably benign 0.00
R9684:M1ap UTSW 6 82,945,094 (GRCm39) missense probably benign 0.28
Z1176:M1ap UTSW 6 82,945,023 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAAAGCCTGAGTGTTTCGTAGTT -3'
(R):5'- TGTTAGCTGAACATCTCATCTTAAAA -3'

Sequencing Primer
(F):5'- GAAAGATCCTCACTGGCTTGC -3'
(R):5'- GTAACACTACAGAGATGGGG -3'
Posted On 2016-12-20