Incidental Mutation 'IGL02893:Meikin'
ID363300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meikin
Ensembl Gene ENSMUSG00000020332
Gene Namemeiotic kinetochore factor
Synonyms4930404A10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02893
Quality Score
Status
Chromosome11
Chromosomal Location54370652-54426790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 54417758 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 394 (C394Y)
Ref Sequence ENSEMBL: ENSMUSP00000091745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094193]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094193
AA Change: C394Y

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: C394Y

DomainStartEndE-ValueType
low complexity region 91 104 N/A INTRINSIC
low complexity region 361 386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143919
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with defects in sister kinetochore pairing in meiosis I. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,290,543 V802A probably damaging Het
Acsl6 G A 11: 54,345,899 V540M probably damaging Het
Ahctf1 A C 1: 179,776,011 Y823* probably null Het
Bbs1 T A 19: 4,897,576 K317* probably null Het
Cand2 T C 6: 115,791,960 L577P probably damaging Het
Cfap44 A T 16: 44,416,817 D449V probably damaging Het
Col28a1 C T 6: 8,103,534 G421S probably damaging Het
Dgkd A G 1: 87,915,208 probably benign Het
Entpd1 T C 19: 40,727,517 V347A probably damaging Het
Etl4 T A 2: 20,760,210 probably benign Het
Fam20a G A 11: 109,721,588 A43V probably benign Het
Fbxo9 A G 9: 78,082,095 probably benign Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gale T C 4: 135,967,602 V295A probably benign Het
Gpr139 A T 7: 119,145,143 V73D probably damaging Het
Hpca A T 4: 129,118,422 M107K probably damaging Het
Igdcc4 G T 9: 65,133,071 V1002F probably damaging Het
Irx4 T A 13: 73,268,778 L431H probably damaging Het
Lca5l T C 16: 96,178,913 T6A probably benign Het
Lrp4 C T 2: 91,474,816 R263C possibly damaging Het
Mmp25 T C 17: 23,644,051 T129A probably damaging Het
Mmp9 A G 2: 164,949,068 probably null Het
Mtmr3 A T 11: 4,507,632 M171K possibly damaging Het
Muc4 C T 16: 32,751,648 H509Y possibly damaging Het
Nwd1 A T 8: 72,667,501 H464L probably damaging Het
Olfr173 A G 16: 58,797,657 L63P probably damaging Het
Paqr5 G A 9: 61,968,868 A128V probably benign Het
Pcdhb10 G A 18: 37,413,634 V588M probably damaging Het
Pip A G 6: 41,847,662 D28G probably damaging Het
Rnf31 T A 14: 55,599,109 F800Y probably damaging Het
Sag T G 1: 87,834,593 S327A probably benign Het
Sdf4 T C 4: 155,996,528 probably benign Het
Slc10a6 A T 5: 103,628,873 D120E probably benign Het
Spata31d1d T A 13: 59,725,979 K1247N possibly damaging Het
Stam2 A G 2: 52,714,902 V207A probably damaging Het
Sytl3 T C 17: 6,732,974 L181P probably damaging Het
Tbc1d32 T C 10: 56,017,703 E1258G probably damaging Het
Tmem63b T G 17: 45,661,900 H656P probably damaging Het
Tmem69 T A 4: 116,553,729 M15L probably benign Het
Tmprss7 T A 16: 45,669,528 I444F possibly damaging Het
Ttbk2 C A 2: 120,783,729 R168L probably damaging Het
Ttc28 A G 5: 111,285,385 Y2095C possibly damaging Het
Ube3c A G 5: 29,632,763 Y643C probably damaging Het
Ywhaq G A 12: 21,396,409 A152V probably damaging Het
Zeb2 T A 2: 44,996,607 I813F probably benign Het
Other mutations in Meikin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Meikin APN 11 54398494 missense probably damaging 0.96
IGL03224:Meikin APN 11 54398460 missense probably benign 0.01
R0153:Meikin UTSW 11 54409642 splice site probably benign
R0634:Meikin UTSW 11 54390483 missense probably benign 0.22
R1374:Meikin UTSW 11 54398444 splice site probably benign
R1457:Meikin UTSW 11 54370941 nonsense probably null
R1659:Meikin UTSW 11 54390566 nonsense probably null
R1799:Meikin UTSW 11 54417787 missense probably benign 0.27
R2869:Meikin UTSW 11 54373507 missense possibly damaging 0.46
R2869:Meikin UTSW 11 54373507 missense possibly damaging 0.46
R3801:Meikin UTSW 11 54399871 synonymous probably null
R4384:Meikin UTSW 11 54417787 nonsense probably null
R6343:Meikin UTSW 11 54370766 missense probably damaging 0.97
R6523:Meikin UTSW 11 54398501 nonsense probably null
R6878:Meikin UTSW 11 54411886 missense possibly damaging 0.83
R7214:Meikin UTSW 11 54411912 missense probably benign 0.40
Posted On2015-12-18