Incidental Mutation 'IGL00666:M1ap'
ID 10038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol M1ap
Ensembl Gene ENSMUSG00000030041
Gene Name meiosis 1 associated protein
Synonyms D6Mm5e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00666
Quality Score
Status
Chromosome 6
Chromosomal Location 82923889-83007290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82933646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 67 (Y67D)
Ref Sequence ENSEMBL: ENSMUSP00000109613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113980]
AlphaFold Q9Z0E1
Predicted Effect probably damaging
Transcript: ENSMUST00000113980
AA Change: Y67D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: Y67D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203190
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 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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,465,080 (GRCm39) V640A possibly damaging Het
Csmd1 G T 8: 16,240,004 (GRCm39) T1136K probably damaging Het
Heatr1 T A 13: 12,425,331 (GRCm39) S590R probably benign Het
Knl1 T A 2: 118,900,945 (GRCm39) I882K probably damaging Het
Prkdc G A 16: 15,554,699 (GRCm39) R2140H probably damaging Het
Ralgapa2 T C 2: 146,327,056 (GRCm39) S68G possibly damaging Het
Robo2 T A 16: 73,758,588 (GRCm39) T732S probably benign Het
Tmem161b A G 13: 84,442,715 (GRCm39) probably benign Het
Other mutations in M1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5821:M1ap UTSW 6 82,945,083 (GRCm39) missense probably benign 0.11
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
Posted On 2012-12-06