Incidental Mutation 'IGL02006:Meioc'
ID183198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meioc
Ensembl Gene ENSMUSG00000051455
Gene Namemeiosis specific with coiled-coil domain
SynonymsGm1564, LOC380729, LOC268491
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL02006
Quality Score
Status
Chromosome11
Chromosomal Location102663716-102682237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102674266 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 180 (D180V)
Ref Sequence ENSEMBL: ENSMUSP00000116246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100378] [ENSMUST00000156590]
Predicted Effect probably damaging
Transcript: ENSMUST00000100378
AA Change: D236V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: D236V

DomainStartEndE-ValueType
low complexity region 526 537 N/A INTRINSIC
low complexity region 712 728 N/A INTRINSIC
Pfam:DUF4582 757 922 5.1e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155813
Predicted Effect probably damaging
Transcript: ENSMUST00000156590
AA Change: D180V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: D180V

DomainStartEndE-ValueType
low complexity region 470 481 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility with small gonads, absent germ cells and arrested meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,199,345 G182S probably damaging Het
Akr1b7 A T 6: 34,415,450 N66I probably benign Het
Arrdc3 T A 13: 80,883,774 I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 A316E probably damaging Het
Atp8a2 A G 14: 59,857,048 V847A possibly damaging Het
Ccdc171 A G 4: 83,795,242 N1173D possibly damaging Het
Crb2 A C 2: 37,786,463 D152A probably damaging Het
Ecm1 T C 3: 95,734,244 E559G probably damaging Het
Ephb1 A G 9: 102,194,772 probably null Het
Fndc11 C A 2: 181,222,091 R230S probably damaging Het
Frem1 A G 4: 82,992,800 probably null Het
Fyco1 G A 9: 123,829,831 Q427* probably null Het
Gm17541 A G 12: 4,689,619 probably benign Het
Gm5431 C T 11: 48,888,503 V809M probably damaging Het
Gm7293 A G 9: 51,622,743 noncoding transcript Het
Ift52 T C 2: 163,023,369 S47P probably benign Het
Iqcf6 A G 9: 106,627,311 D58G probably benign Het
Itm2b T C 14: 73,363,048 probably benign Het
Jakmip1 T C 5: 37,120,987 I536T probably damaging Het
Kcnh1 T G 1: 192,191,015 M3R possibly damaging Het
Kcnh5 G T 12: 74,897,548 P976T probably damaging Het
Layn G A 9: 51,057,291 probably benign Het
Lrrc37a T A 11: 103,456,491 Q3126L probably damaging Het
Myo15 T A 11: 60,511,128 C3066S probably damaging Het
Nbeal1 T C 1: 60,272,259 probably null Het
Negr1 T C 3: 157,016,173 probably benign Het
Nek1 T A 8: 61,104,192 N940K probably benign Het
Nfkbib A T 7: 28,766,242 probably null Het
Nol4 T A 18: 22,921,918 T152S probably damaging Het
Oas3 G T 5: 120,769,235 R446S probably benign Het
Olfr225 T C 11: 59,613,159 L65P probably damaging Het
Olfr457 A G 6: 42,472,091 V29A probably benign Het
Oosp3 C T 19: 11,699,420 L48F probably damaging Het
Pik3ap1 C A 19: 41,302,593 W500L probably benign Het
Ppih A G 4: 119,311,582 probably benign Het
Slc7a15 T C 12: 8,535,508 probably null Het
Srl T C 16: 4,497,286 E164G probably benign Het
Tbx10 C A 19: 3,998,186 T237K probably damaging Het
Trove2 G T 1: 143,760,346 probably benign Het
Vwa5b2 T C 16: 20,597,093 V392A probably damaging Het
Wfdc5 A T 2: 164,182,563 probably benign Het
Xirp2 T C 2: 67,511,962 F1516L possibly damaging Het
Znfx1 A G 2: 167,055,763 C414R probably damaging Het
Other mutations in Meioc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Meioc APN 11 102674287 missense probably benign 0.33
IGL01952:Meioc APN 11 102672185 missense possibly damaging 0.79
IGL02195:Meioc APN 11 102674857 missense possibly damaging 0.91
IGL02339:Meioc APN 11 102668448 missense probably benign 0.18
IGL02935:Meioc APN 11 102672191 missense probably benign 0.06
IGL03294:Meioc APN 11 102680669 missense probably damaging 1.00
PIT4519001:Meioc UTSW 11 102679957 missense probably damaging 1.00
R0285:Meioc UTSW 11 102672191 missense probably benign 0.06
R0964:Meioc UTSW 11 102680031 missense probably damaging 1.00
R1074:Meioc UTSW 11 102675393 missense probably damaging 1.00
R2024:Meioc UTSW 11 102675358 missense probably benign 0.00
R4012:Meioc UTSW 11 102675828 missense probably damaging 0.99
R4429:Meioc UTSW 11 102675720 missense probably damaging 1.00
R4491:Meioc UTSW 11 102674920 missense possibly damaging 0.84
R4594:Meioc UTSW 11 102674166 missense probably damaging 1.00
R4752:Meioc UTSW 11 102674433 missense probably benign 0.00
R5301:Meioc UTSW 11 102680045 missense probably damaging 1.00
R5352:Meioc UTSW 11 102675313 missense probably benign 0.03
R5646:Meioc UTSW 11 102675257 missense possibly damaging 0.94
R5958:Meioc UTSW 11 102675153 missense probably benign 0.41
R5968:Meioc UTSW 11 102675831 missense probably damaging 0.99
R6157:Meioc UTSW 11 102668401 missense probably damaging 1.00
R6410:Meioc UTSW 11 102675034 missense probably benign 0.00
R6644:Meioc UTSW 11 102668460 critical splice donor site probably null
R7285:Meioc UTSW 11 102666342 missense probably benign 0.00
R7440:Meioc UTSW 11 102674237 missense possibly damaging 0.67
R7815:Meioc UTSW 11 102675588 missense probably damaging 1.00
R8009:Meioc UTSW 11 102676743 missense probably damaging 1.00
Z1177:Meioc UTSW 11 102666364 frame shift probably null
Posted On2014-05-07