Incidental Mutation 'IGL03224:Meikin'
ID413726
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 #IGL03224
Quality Score
Status
Chromosome11
Chromosomal Location54370652-54426790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54398460 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 220 (M220V)
Ref Sequence ENSEMBL: ENSMUSP00000091745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094193]
Predicted Effect probably benign
Transcript: ENSMUST00000094193
AA Change: M220V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: M220V

DomainStartEndE-ValueType
low complexity region 91 104 N/A INTRINSIC
low complexity region 361 386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144172
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A G 7: 118,792,553 probably benign Het
Ash1l T C 3: 89,035,268 probably benign Het
Capn10 T G 1: 92,939,324 V92G probably damaging Het
Cntn2 A G 1: 132,523,042 C532R probably damaging Het
Csf1r T C 18: 61,112,062 F233L probably damaging Het
Cts6 T C 13: 61,201,733 D82G probably damaging Het
Cym T C 3: 107,218,732 S72G possibly damaging Het
Cyp4a29 T A 4: 115,247,050 M105K probably damaging Het
Dhx35 T C 2: 158,857,132 probably benign Het
Dnah5 C A 15: 28,459,154 D4506E probably damaging Het
Dok5 T C 2: 170,832,887 F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 D2974G probably benign Het
Frem3 C T 8: 80,613,463 T795I probably damaging Het
Ints6l A G X: 56,497,927 T525A probably damaging Het
Lrp1b T C 2: 41,471,031 T587A possibly damaging Het
Mmp12 T A 9: 7,350,002 probably benign Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Myo3b A G 2: 70,349,939 Y1190C probably benign Het
Myo5c A G 9: 75,278,243 K963E probably benign Het
Nipbl T C 15: 8,293,085 D2614G probably damaging Het
Ppp1r3f A G X: 7,560,582 V480A probably benign Het
Prkcb A T 7: 122,516,924 K209* probably null Het
Rasgef1a A G 6: 118,089,806 probably benign Het
Ryr3 A T 2: 112,954,336 C233* probably null Het
Scn8a A G 15: 101,035,639 R1534G probably damaging Het
Slitrk3 A T 3: 73,049,930 L503H possibly damaging Het
Spag17 A G 3: 100,010,840 K380E possibly damaging Het
Spata31d1a A G 13: 59,701,026 V1096A possibly damaging Het
Synrg C T 11: 84,039,666 T1278M possibly damaging Het
Teddm1a G T 1: 153,892,017 V76F possibly damaging Het
Troap A G 15: 99,081,877 T365A probably benign Het
Other mutations in Meikin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Meikin APN 11 54398494 missense probably damaging 0.96
IGL02893:Meikin APN 11 54417758 missense possibly damaging 0.83
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
Posted On2016-08-02