Incidental Mutation 'R2041:Mis12'
ID 224962
Institutional Source Beutler Lab
Gene Symbol Mis12
Ensembl Gene ENSMUSG00000040599
Gene Name MIS12 kinetochore complex component
Synonyms 2510025F08Rik
MMRRC Submission 040048-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R2041 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70910437-70918197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70916132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 55 (I55N)
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: I55N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039500
Gene: ENSMUSG00000040599
AA Change: I55N

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 probably benign
Transcript: ENSMUST00000136137
Predicted Effect probably benign
Transcript: ENSMUST00000143762
Predicted Effect probably benign
Transcript: ENSMUST00000155236
Predicted Effect probably damaging
Transcript: ENSMUST00000164220
AA Change: I55N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127782
Gene: ENSMUSG00000040599
AA Change: I55N

DomainStartEndE-ValueType
Pfam:Mis12 8 156 2.5e-47 PFAM
coiled coil region 179 206 N/A INTRINSIC
Meta Mutation Damage Score 0.2790 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,211 (GRCm39) D265E probably damaging Het
2610021A01Rik A G 7: 41,275,403 (GRCm39) R369G possibly damaging Het
Actr3b T C 5: 25,965,128 (GRCm39) probably null Het
Adamts12 A T 15: 11,215,821 (GRCm39) M281L probably damaging Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Akap12 C T 10: 4,306,489 (GRCm39) P1100S probably benign Het
Alox8 T A 11: 69,088,517 (GRCm39) H40L possibly damaging Het
Anks1 T A 17: 28,227,388 (GRCm39) F659L probably damaging Het
Asxl3 G T 18: 22,656,508 (GRCm39) R1506L probably benign Het
Bicd2 A G 13: 49,495,252 (GRCm39) T36A probably benign Het
Ccar1 A T 10: 62,601,827 (GRCm39) L448Q probably damaging Het
Ccdc17 T G 4: 116,456,789 (GRCm39) N497K probably damaging Het
Chek2 T C 5: 110,996,530 (GRCm39) I164T probably damaging Het
Cntnap5c T C 17: 58,411,765 (GRCm39) probably null Het
Cntnap5c T A 17: 58,505,984 (GRCm39) D669E probably benign Het
Cpsf6 A G 10: 117,195,033 (GRCm39) I482T probably damaging Het
Csf3 C T 11: 98,592,483 (GRCm39) S65L possibly damaging Het
Dlc1 A G 8: 37,049,922 (GRCm39) Y1049H probably damaging Het
Dnah6 T C 6: 73,050,422 (GRCm39) D3048G probably damaging Het
Eif4g3 T A 4: 137,832,617 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,084,070 (GRCm39) K195R probably damaging Het
Epn1 T C 7: 5,086,874 (GRCm39) S41P probably damaging Het
Fam120a C A 13: 49,051,243 (GRCm39) V721L probably benign Het
Fchsd1 T A 18: 38,100,729 (GRCm39) probably null Het
Fer1l6 G A 15: 58,430,155 (GRCm39) G194D probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fyb1 A C 15: 6,674,268 (GRCm39) T635P possibly damaging Het
Gpr153 A G 4: 152,367,810 (GRCm39) S554G probably benign Het
Grm1 A G 10: 10,622,347 (GRCm39) F459L probably damaging Het
H60c C T 10: 3,209,972 (GRCm39) G105D probably damaging Het
Ifnlr1 T A 4: 135,433,148 (GRCm39) M528K possibly damaging Het
Lama4 A T 10: 38,945,987 (GRCm39) D790V probably damaging Het
Mfsd13b T C 7: 120,591,139 (GRCm39) probably benign Het
Morn1 T C 4: 155,175,399 (GRCm39) Y103H probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Ndst3 C A 3: 123,465,864 (GRCm39) G36V probably benign Het
Nlrp4a T A 7: 26,149,611 (GRCm39) M406K probably damaging Het
Or4p18 T C 2: 88,232,568 (GRCm39) T237A probably damaging Het
Or51t4 T A 7: 102,598,170 (GRCm39) V156E probably damaging Het
Or5b106 A T 19: 13,124,041 (GRCm39) probably benign Het
Or7g32 A T 9: 19,408,131 (GRCm39) D29V probably benign Het
Or9m1 T C 2: 87,733,141 (GRCm39) N293S probably damaging Het
Pars2 A G 4: 106,510,814 (GRCm39) T199A probably damaging Het
Plcb4 C T 2: 135,780,191 (GRCm39) T172I probably damaging Het
Pomgnt2 A T 9: 121,811,354 (GRCm39) W476R probably benign Het
Psg23 T A 7: 18,348,703 (GRCm39) S35C possibly damaging Het
Pycr3 T A 15: 75,791,144 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rgs2 A G 1: 143,877,960 (GRCm39) F80S probably damaging Het
Sall1 A G 8: 89,759,429 (GRCm39) L225P probably benign Het
Setd3 A G 12: 108,079,651 (GRCm39) I284T possibly damaging Het
Slc4a9 C T 18: 36,663,846 (GRCm39) T290I possibly damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Ube3b T C 5: 114,525,294 (GRCm39) L39P probably damaging Het
Ubr2 C A 17: 47,296,973 (GRCm39) R269L probably damaging Het
Vrk2 A T 11: 26,497,914 (GRCm39) I90K probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp984 A T 4: 147,839,796 (GRCm39) C352S probably damaging Het
Other mutations in Mis12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02653:Mis12 APN 11 70,916,357 (GRCm39) missense probably damaging 1.00
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
R6698:Mis12 UTSW 11 70,916,012 (GRCm39) missense probably damaging 1.00
R8675:Mis12 UTSW 11 70,916,500 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTTGCAGATTTTCACAGCTGAG -3'
(R):5'- CTGTTGGAGAAGCTCGAGTTTC -3'

Sequencing Primer
(F):5'- CAGATTTTCACAGCTGAGAGTGC -3'
(R):5'- AGCTCGAGTTTCTCTTCACTGAAAGG -3'
Posted On 2014-08-25