Incidental Mutation 'IGL02195:Meioc'
ID284020
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: 0.120) question?
Stock #IGL02195
Quality Score
Status
Chromosome11
Chromosomal Location102663716-102682237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 102674857 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 433 (T433K)
Ref Sequence ENSEMBL: ENSMUSP00000097947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100378] [ENSMUST00000156590]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100378
AA Change: T433K

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: T433K

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 possibly damaging
Transcript: ENSMUST00000156590
AA Change: T377K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: T377K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Gatb A T 3: 85,604,448 Y170F probably benign Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Kif4 T C X: 100,726,216 F1154S probably damaging Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Mtmr7 A G 8: 40,560,905 V204A probably damaging Het
Nus1 A G 10: 52,433,369 D91G probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Trim72 A T 7: 128,007,964 M222L 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
IGL02006:Meioc APN 11 102674266 missense probably damaging 1.00
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 On2015-04-16