Incidental Mutation 'IGL01511:M1ap'
ID 89232
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 # IGL01511
Quality Score
Status
Chromosome 6
Chromosomal Location 82923889-83007290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83005393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 434 (D434E)
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 benign
Transcript: ENSMUST00000113980
AA Change: D434E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: D434E

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
Predicted Effect probably benign
Transcript: ENSMUST00000204900
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign Het
Other mutations in M1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:M1ap APN 6 82,933,646 (GRCm39) missense probably damaging 1.00
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 2013-12-03