Incidental Mutation 'IGL00493:Meikin'
ID 6059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meikin
Ensembl Gene ENSMUSG00000020332
Gene Name meiotic kinetochore factor
Synonyms 4930404A10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # IGL00493
Quality Score
Status
Chromosome 11
Chromosomal Location 54261478-54317616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54289320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 231 (P231L)
Ref Sequence ENSEMBL: ENSMUSP00000091745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094193]
AlphaFold Q5F2C3
Predicted Effect probably damaging
Transcript: ENSMUST00000094193
AA Change: P231L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: P231L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Clhc1 T A 11: 29,521,745 (GRCm39) I426N probably damaging Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Ift70a1 C A 2: 75,812,085 (GRCm39) probably benign Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Pde6c T C 19: 38,151,324 (GRCm39) probably benign Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Sel1l A G 12: 91,781,387 (GRCm39) probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Ugt2b1 A G 5: 87,073,817 (GRCm39) C181R probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Meikin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02893:Meikin APN 11 54,308,584 (GRCm39) missense possibly damaging 0.83
IGL03224:Meikin APN 11 54,289,286 (GRCm39) missense probably benign 0.01
R0153:Meikin UTSW 11 54,300,468 (GRCm39) splice site probably benign
R0634:Meikin UTSW 11 54,281,309 (GRCm39) missense probably benign 0.22
R1374:Meikin UTSW 11 54,289,270 (GRCm39) splice site probably benign
R1457:Meikin UTSW 11 54,261,767 (GRCm39) nonsense probably null
R1659:Meikin UTSW 11 54,281,392 (GRCm39) nonsense probably null
R1799:Meikin UTSW 11 54,308,613 (GRCm39) missense probably benign 0.27
R2869:Meikin UTSW 11 54,264,333 (GRCm39) missense possibly damaging 0.46
R2869:Meikin UTSW 11 54,264,333 (GRCm39) missense possibly damaging 0.46
R3801:Meikin UTSW 11 54,290,697 (GRCm39) splice site probably null
R4384:Meikin UTSW 11 54,308,613 (GRCm39) nonsense probably null
R6343:Meikin UTSW 11 54,261,592 (GRCm39) missense probably damaging 0.97
R6523:Meikin UTSW 11 54,289,327 (GRCm39) nonsense probably null
R6878:Meikin UTSW 11 54,302,712 (GRCm39) missense possibly damaging 0.83
R7214:Meikin UTSW 11 54,302,738 (GRCm39) missense probably benign 0.40
R7969:Meikin UTSW 11 54,300,536 (GRCm39) missense possibly damaging 0.83
R8462:Meikin UTSW 11 54,290,666 (GRCm39) missense probably benign 0.01
R8680:Meikin UTSW 11 54,317,477 (GRCm39) missense possibly damaging 0.46
R9136:Meikin UTSW 11 54,285,464 (GRCm39) missense possibly damaging 0.82
R9169:Meikin UTSW 11 54,285,517 (GRCm39) missense possibly damaging 0.66
Posted On 2012-04-20