Incidental Mutation 'IGL03294:Meioc'
ID416021
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: 0.157) question?
Stock #IGL03294
Quality Score
Status
Chromosome11
Chromosomal Location102663716-102682237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102680669 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 943 (E943V)
Ref Sequence ENSEMBL: ENSMUSP00000097947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092569] [ENSMUST00000100378] [ENSMUST00000164506]
Predicted Effect probably benign
Transcript: ENSMUST00000092569
SMART Domains Protein: ENSMUSP00000090230
Gene: ENSMUSG00000020925

DomainStartEndE-ValueType
low complexity region 138 149 N/A INTRINSIC
coiled coil region 172 217 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100378
AA Change: E943V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: E943V

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 probably benign
Transcript: ENSMUST00000164506
SMART Domains Protein: ENSMUSP00000127494
Gene: ENSMUSG00000020925

DomainStartEndE-ValueType
low complexity region 134 149 N/A INTRINSIC
coiled coil region 172 217 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,958,438 M119L probably benign Het
Akap10 A T 11: 61,877,353 V646D probably damaging Het
Aldh3a1 A G 11: 61,214,722 Y218C probably damaging Het
Arfgef3 T A 10: 18,664,912 L174F probably damaging Het
Arhgef6 T C X: 57,336,978 K99E possibly damaging Het
Atp9a T C 2: 168,689,305 K163E probably benign Het
Birc6 C T 17: 74,649,886 A3605V probably benign Het
C8b G A 4: 104,780,691 R120Q probably benign Het
Ccr1l1 A C 9: 123,978,407 M1R probably null Het
Clca2 A G 3: 145,097,769 S105P probably damaging Het
Cntnap1 A G 11: 101,181,682 T502A possibly damaging Het
Ddx10 C T 9: 53,117,152 probably null Het
Dnah5 G A 15: 28,233,295 probably null Het
Dock9 A T 14: 121,641,623 probably benign Het
Gli2 A G 1: 118,837,436 V995A probably benign Het
Gpr34 T C X: 13,639,549 Y106H probably damaging Het
Kmt2a A T 9: 44,820,565 probably benign Het
Lamc1 C A 1: 153,262,646 R154L probably damaging Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Nav2 C T 7: 49,491,457 R917* probably null Het
Olfr1317 T C 2: 112,142,173 I76T probably benign Het
Olfr850 T C 9: 19,477,989 N87S possibly damaging Het
Pcsk9 T A 4: 106,446,770 I506L probably benign Het
Phf14 T A 6: 11,953,367 D368E probably damaging Het
Phka1 C A X: 102,537,213 S964I probably damaging Het
Pikfyve G A 1: 65,247,067 R1155Q probably damaging Het
Plin2 C T 4: 86,662,078 V60M probably damaging Het
Ptpn9 A G 9: 57,027,387 Q145R possibly damaging Het
Sap30 A G 8: 57,487,301 I89T probably damaging Het
Sec61a2 T C 2: 5,876,465 probably null Het
Slc34a2 A C 5: 53,063,998 D262A probably benign Het
Slc6a3 G A 13: 73,557,181 probably null Het
Slfn4 A T 11: 83,186,574 T63S probably benign Het
Tbx10 A T 19: 3,998,571 probably benign Het
Tie1 A T 4: 118,480,223 N501K probably damaging Het
Tmprss11f A T 5: 86,538,107 Y134N probably damaging Het
Uevld A T 7: 46,931,030 D361E possibly damaging Het
Ugt1a5 A C 1: 88,166,815 D255A probably damaging Het
Vmn2r11 A G 5: 109,054,069 F190L probably benign Het
Wfs1 G A 5: 36,975,597 R113C probably damaging Het
Yipf5 T G 18: 40,206,396 M206L probably benign Het
Zbtb10 A G 3: 9,280,987 D847G probably benign Het
Zfp786 T A 6: 47,821,324 K227* probably null 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
IGL02006:Meioc APN 11 102674266 missense probably damaging 1.00
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
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
Posted On2016-08-02