Incidental Mutation 'R3737:Ska3'
ID 270194
Institutional Source Beutler Lab
Gene Symbol Ska3
Ensembl Gene ENSMUSG00000021965
Gene Name spindle and kinetochore associated complex subunit 3
Synonyms F630043A04Rik
MMRRC Submission 040724-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R3737 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 58044018-58063642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58049053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 306 (M306K)
Ref Sequence ENSEMBL: ENSMUSP00000022536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000128764]
AlphaFold Q8C263
Predicted Effect probably benign
Transcript: ENSMUST00000022536
AA Change: M306K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: M306K

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000128764
SMART Domains Protein: ENSMUSP00000120071
Gene: ENSMUSG00000021963

DomainStartEndE-ValueType
Pfam:SAP18 38 156 2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225646
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Bicral A T 17: 47,136,836 (GRCm39) Y125N probably damaging Het
Brd2 A G 17: 34,336,054 (GRCm39) L53S probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Clca3a1 A G 3: 144,436,482 (GRCm39) V867A probably benign Het
Dchs1 T A 7: 105,411,523 (GRCm39) D1531V possibly damaging Het
Dnah9 G A 11: 66,047,734 (GRCm39) Q29* probably null Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Fgfbp1 T C 5: 44,136,938 (GRCm39) Y118C probably damaging Het
Gal3st2c A G 1: 93,937,050 (GRCm39) I332V possibly damaging Het
Gprc6a A C 10: 51,503,007 (GRCm39) N285K probably benign Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Il36rn T C 2: 24,171,215 (GRCm39) F101S probably damaging Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Mon2 A G 10: 122,849,280 (GRCm39) L1340P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 C CAGT 19: 46,069,816 (GRCm39) probably benign Het
Nolc1 CAG CAGTAG 19: 46,069,792 (GRCm39) probably benign Het
Nolc1 GCA GCAACA 19: 46,069,809 (GRCm39) probably benign Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pcm1 T A 8: 41,714,080 (GRCm39) Y215* probably null Het
Pde6c T A 19: 38,128,672 (GRCm39) V212D probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
R3hcc1 C T 14: 69,935,042 (GRCm39) R262Q probably benign Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tprg1l T C 4: 154,244,585 (GRCm39) I137V probably benign Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Ubr3 G A 2: 69,801,578 (GRCm39) probably null Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Usp49 G A 17: 47,983,243 (GRCm39) V83M probably damaging Het
Usp6nl C A 2: 6,445,728 (GRCm39) N568K probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r55 T G 7: 5,150,195 (GRCm39) D76A probably damaging Het
Xrcc6 T C 15: 81,913,832 (GRCm39) Y53H probably damaging Het
Zbtb7c T G 18: 76,270,011 (GRCm39) L33R probably damaging Het
Other mutations in Ska3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Ska3 APN 14 58,059,581 (GRCm39) missense possibly damaging 0.95
IGL01969:Ska3 APN 14 58,049,119 (GRCm39) missense probably benign 0.00
IGL02539:Ska3 APN 14 58,057,968 (GRCm39) missense possibly damaging 0.86
IGL02665:Ska3 APN 14 58,059,529 (GRCm39) missense probably damaging 1.00
R1276:Ska3 UTSW 14 58,057,726 (GRCm39) missense probably damaging 1.00
R3738:Ska3 UTSW 14 58,049,053 (GRCm39) missense probably benign 0.00
R3771:Ska3 UTSW 14 58,047,534 (GRCm39) missense probably benign 0.06
R3772:Ska3 UTSW 14 58,047,534 (GRCm39) missense probably benign 0.06
R3773:Ska3 UTSW 14 58,047,534 (GRCm39) missense probably benign 0.06
R5269:Ska3 UTSW 14 58,059,573 (GRCm39) missense possibly damaging 0.87
R6088:Ska3 UTSW 14 58,054,151 (GRCm39) missense probably benign 0.01
R6320:Ska3 UTSW 14 58,054,148 (GRCm39) missense probably benign 0.04
R7792:Ska3 UTSW 14 58,047,512 (GRCm39) missense probably damaging 0.97
R8108:Ska3 UTSW 14 58,063,559 (GRCm39) missense probably damaging 1.00
R8362:Ska3 UTSW 14 58,054,105 (GRCm39) missense probably benign 0.27
R8976:Ska3 UTSW 14 58,057,851 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCTGAGAAAGATACTGGCTCC -3'
(R):5'- AGATTGCATTCCCAGCAACC -3'

Sequencing Primer
(F):5'- GAAAGATACTGGCTCCTTATTTCCGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
Posted On 2015-03-18