Incidental Mutation 'R6698:Mis12'
ID 528658
Institutional Source Beutler Lab
Gene Symbol Mis12
Ensembl Gene ENSMUSG00000040599
Gene Name MIS12 kinetochore complex component
Synonyms 2510025F08Rik
MMRRC Submission 044816-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R6698 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70910437-70918197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70916012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 15 (F15S)
Ref Sequence ENSEMBL: ENSMUSP00000127782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048807] [ENSMUST00000133413] [ENSMUST00000136137] [ENSMUST00000143762] [ENSMUST00000155236] [ENSMUST00000164220]
AlphaFold Q9CY25
Predicted Effect probably damaging
Transcript: ENSMUST00000048807
AA Change: F15S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039500
Gene: ENSMUSG00000040599
AA Change: F15S

DomainStartEndE-ValueType
Pfam:Mis12 8 141 4.2e-31 PFAM
coiled coil region 179 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133413
Predicted Effect unknown
Transcript: ENSMUST00000136137
AA Change: F15S
Predicted Effect probably benign
Transcript: ENSMUST00000143762
Predicted Effect probably benign
Transcript: ENSMUST00000155236
Predicted Effect probably damaging
Transcript: ENSMUST00000164220
AA Change: F15S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127782
Gene: ENSMUSG00000040599
AA Change: F15S

DomainStartEndE-ValueType
Pfam:Mis12 8 156 2.5e-47 PFAM
coiled coil region 179 206 N/A INTRINSIC
Meta Mutation Damage Score 0.9312 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brca2 T C 5: 150,455,859 (GRCm39) V200A probably damaging Het
Camk2g T A 14: 20,792,776 (GRCm39) K393* probably null Het
Catsperb T A 12: 101,475,466 (GRCm39) F337I probably damaging Het
Cdk17 T C 10: 93,064,540 (GRCm39) Y270H probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Col6a5 T A 9: 105,811,374 (GRCm39) N715I unknown Het
Fancg A G 4: 43,007,034 (GRCm39) S248P probably benign Het
Flvcr1 T C 1: 190,757,929 (GRCm39) Y79C probably damaging Het
Gabrp A G 11: 33,507,017 (GRCm39) S198P probably damaging Het
Gask1b A G 3: 79,843,902 (GRCm39) I10V probably damaging Het
Glp1r A G 17: 31,155,375 (GRCm39) Y454C probably damaging Het
Gpr158 A C 2: 21,831,921 (GRCm39) D1007A probably damaging Het
Gsdmc3 A G 15: 63,732,120 (GRCm39) F302S possibly damaging Het
Gsdmc4 T A 15: 63,765,613 (GRCm39) D312V probably benign Het
Itga5 T C 15: 103,259,808 (GRCm39) Y663C probably benign Het
Kif1b A T 4: 149,359,413 (GRCm39) M108K probably damaging Het
Klf11 T G 12: 24,703,618 (GRCm39) S18A probably damaging Het
Lmtk2 T C 5: 144,111,737 (GRCm39) V819A probably benign Het
Lrba A G 3: 86,211,732 (GRCm39) M451V probably damaging Het
Lrp1b T C 2: 41,192,958 (GRCm39) D488G probably damaging Het
Mark4 T C 7: 19,163,362 (GRCm39) N589S probably benign Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Nlrx1 A G 9: 44,177,104 (GRCm39) W3R probably damaging Het
Nup210l G A 3: 90,089,815 (GRCm39) S1194N possibly damaging Het
Or13m2-ps1 A T 6: 42,778,136 (GRCm39) T154S probably benign Het
Or5d20-ps1 A G 2: 87,931,561 (GRCm39) F257L unknown Het
Pnkd T A 1: 74,389,836 (GRCm39) L320Q probably damaging Het
Prkn A G 17: 11,286,183 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Homo
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rpn2 T C 2: 157,139,330 (GRCm39) I208T possibly damaging Het
Skint4 G T 4: 111,977,096 (GRCm39) C170F probably damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tcp11 A T 17: 28,290,804 (GRCm39) I106N possibly damaging Het
Tg A G 15: 66,711,211 (GRCm39) Y991C probably damaging Het
Trib3 A G 2: 152,180,339 (GRCm39) S285P probably damaging Het
Wdr49 A T 3: 75,336,673 (GRCm39) W345R probably benign Het
Wnt5a A G 14: 28,240,420 (GRCm39) Y190C possibly damaging Het
Xpo1 A G 11: 23,244,040 (GRCm39) E955G probably benign Het
Other mutations in Mis12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02653:Mis12 APN 11 70,916,357 (GRCm39) missense probably damaging 1.00
R2041:Mis12 UTSW 11 70,916,132 (GRCm39) missense probably damaging 0.99
R4077:Mis12 UTSW 11 70,916,134 (GRCm39) missense probably benign 0.00
R4163:Mis12 UTSW 11 70,916,482 (GRCm39) missense probably benign 0.00
R4697:Mis12 UTSW 11 70,916,152 (GRCm39) missense possibly damaging 0.95
R4951:Mis12 UTSW 11 70,916,473 (GRCm39) missense probably benign
R8675:Mis12 UTSW 11 70,916,500 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGTGGACAGTTAAGGCTGG -3'
(R):5'- CGTCCTTTCATGAAGCAAAGAAAC -3'

Sequencing Primer
(F):5'- GACTTAAGGTATCAAAGGAACACTC -3'
(R):5'- AGAAACTTCTCTGTGCATTTCCGAG -3'
Posted On 2018-07-24