Incidental Mutation 'IGL02243:M1ap'
ID 286069
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: 0.068) question?
Stock # IGL02243
Quality Score
Status
Chromosome 6
Chromosomal Location 82946902-83030309 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83026288 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 389 (P389S)
Ref Sequence ENSEMBL: ENSMUSP00000109613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089651] [ENSMUST00000113980] [ENSMUST00000149918]
AlphaFold Q9Z0E1
Predicted Effect probably benign
Transcript: ENSMUST00000089651
SMART Domains Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335

DomainStartEndE-ValueType
PH 4 121 1.31e-8 SMART
IRS 151 254 1.21e-45 SMART
PTBI 152 254 3.84e-59 SMART
low complexity region 411 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113980
AA Change: P389S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: P389S

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: ENSMUST00000144906
Predicted Effect probably benign
Transcript: ENSMUST00000149918
Predicted Effect probably benign
Transcript: ENSMUST00000204891
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,302,341 Y87C probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Brsk2 T C 7: 141,993,299 F493S probably damaging Het
Cd19 T C 7: 126,410,793 probably null Het
Chd2 T C 7: 73,497,708 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ddx19a T G 8: 110,976,456 I450L probably benign Het
Edn2 G A 4: 120,162,032 probably null Het
Elp2 G A 18: 24,622,606 R470Q probably benign Het
Fhdc1 T G 3: 84,474,640 M1L possibly damaging Het
Gba2 A T 4: 43,568,719 I619N probably benign Het
Glce A G 9: 62,070,140 F154S probably damaging Het
Gm3476 A T 14: 6,122,811 C195* probably null Het
Hsp90aa1 A G 12: 110,695,091 S164P probably damaging Het
Iqcg T C 16: 33,045,592 D127G probably damaging Het
Jag2 G A 12: 112,916,345 T381I possibly damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lhx2 T A 2: 38,353,519 probably benign Het
Lrrc2 A T 9: 110,970,057 N158I probably damaging Het
Maats1 T C 16: 38,341,780 probably benign Het
Masp2 A T 4: 148,603,068 D104V probably benign Het
Met G A 6: 17,549,094 V982I probably damaging Het
Msh2 T A 17: 87,678,368 probably benign Het
Myh9 A G 15: 77,767,482 L1509P probably damaging Het
Mylk2 A G 2: 152,920,553 H554R probably damaging Het
Oxr1 T G 15: 41,535,701 probably benign Het
Pdp1 A T 4: 11,961,873 V146D probably benign Het
Pdzrn4 A T 15: 92,770,696 M910L probably benign Het
Prl2a1 T C 13: 27,807,417 probably benign Het
Rapgef6 C T 11: 54,676,400 P1136S probably damaging Het
Rasgef1c A T 11: 49,957,390 S69C possibly damaging Het
Rnaseh1 C T 12: 28,655,632 R152W probably damaging Het
Sele T C 1: 164,052,968 V373A probably benign Het
Tmem67 G A 4: 12,070,584 S314L possibly damaging Het
Traf4 T C 11: 78,160,517 E271G probably benign Het
Trim39 T C 17: 36,260,384 D494G probably damaging Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Other mutations in M1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:M1ap APN 6 82956665 missense probably damaging 1.00
IGL01511:M1ap APN 6 83028412 missense probably benign 0.00
IGL01803:M1ap APN 6 83005584 missense probably benign 0.01
R1799:M1ap UTSW 6 83005510 nonsense probably null
R2073:M1ap UTSW 6 82981882 missense probably benign 0.05
R2074:M1ap UTSW 6 82981882 missense probably benign 0.05
R2355:M1ap UTSW 6 82956503 missense probably benign 0.00
R4063:M1ap UTSW 6 83003775 missense probably damaging 1.00
R5024:M1ap UTSW 6 83028358 unclassified probably benign
R5029:M1ap UTSW 6 83003832 missense probably damaging 1.00
R5564:M1ap UTSW 6 82981817 missense probably damaging 1.00
R5740:M1ap UTSW 6 82981922 missense probably damaging 0.96
R5821:M1ap UTSW 6 82968102 missense probably benign 0.11
R5860:M1ap UTSW 6 83003814 missense probably damaging 1.00
R6190:M1ap UTSW 6 83003896 missense possibly damaging 0.60
R6773:M1ap UTSW 6 82968080 missense probably damaging 1.00
R7350:M1ap UTSW 6 82981949 missense probably benign 0.38
R7736:M1ap UTSW 6 83005584 missense probably benign 0.00
R9684:M1ap UTSW 6 82968113 missense probably benign 0.28
Z1176:M1ap UTSW 6 82968042 nonsense probably null
Posted On 2015-04-16