Incidental Mutation 'IGL00961:Ska3'
ID28976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ska3
Ensembl Gene ENSMUSG00000021965
Gene Namespindle and kinetochore associated complex subunit 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #IGL00961
Quality Score
Status
Chromosome14
Chromosomal Location57806561-57826185 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57822124 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 81 (I81M)
Ref Sequence ENSEMBL: ENSMUSP00000022536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000022538]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022536
AA Change: I81M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: I81M

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000022538
SMART Domains Protein: ENSMUSP00000022538
Gene: ENSMUSG00000021967

DomainStartEndE-ValueType
Pfam:MRP-63 13 101 9e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225753
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921522P10Rik C A 8: 8,663,425 probably benign Het
Arfgef3 T A 10: 18,611,237 I1350F probably damaging Het
Arfip1 A G 3: 84,497,788 V236A probably benign Het
Bicc1 A G 10: 70,961,157 I124T probably damaging Het
Cacnb4 T A 2: 52,477,712 I82F possibly damaging Het
Card11 A T 5: 140,899,709 M365K probably damaging Het
Chd2 A G 7: 73,444,249 S1560P probably damaging Het
Depdc1a T A 3: 159,523,814 N594K possibly damaging Het
Dmbx1 A T 4: 115,920,006 V215E probably benign Het
Farp2 A T 1: 93,621,313 E1047V possibly damaging Het
Gm21759 A T 5: 8,179,731 probably benign Het
Gpr182 C T 10: 127,750,690 V131I probably benign Het
Irx1 T C 13: 71,959,957 D202G probably damaging Het
Lrp6 T C 6: 134,507,646 D338G probably damaging Het
Nrxn3 A T 12: 90,204,546 I241L possibly damaging Het
Parp6 A G 9: 59,632,959 Y265C probably damaging Het
Prex1 G T 2: 166,585,736 Q999K probably damaging Het
Rad54b T C 4: 11,599,699 I301T probably damaging Het
Rnf213 A T 11: 119,440,843 I2294F possibly damaging Het
Smap1 T C 1: 23,848,274 N308S probably benign Het
Stag3 A G 5: 138,298,349 K490E probably benign Het
Stk11ip C T 1: 75,530,266 R664C probably damaging Het
Tmem176b T A 6: 48,834,070 I259F possibly damaging Het
Usp37 T C 1: 74,490,155 T122A probably benign Het
Vmn2r7 T C 3: 64,715,813 E453G possibly damaging Het
Other mutations in Ska3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Ska3 APN 14 57811662 missense probably benign 0.00
IGL02539:Ska3 APN 14 57820511 missense possibly damaging 0.86
IGL02665:Ska3 APN 14 57822072 missense probably damaging 1.00
R1276:Ska3 UTSW 14 57820269 missense probably damaging 1.00
R3737:Ska3 UTSW 14 57811596 missense probably benign 0.00
R3738:Ska3 UTSW 14 57811596 missense probably benign 0.00
R3771:Ska3 UTSW 14 57810077 missense probably benign 0.06
R3772:Ska3 UTSW 14 57810077 missense probably benign 0.06
R3773:Ska3 UTSW 14 57810077 missense probably benign 0.06
R5269:Ska3 UTSW 14 57822116 missense possibly damaging 0.87
R6088:Ska3 UTSW 14 57816694 missense probably benign 0.01
R6320:Ska3 UTSW 14 57816691 missense probably benign 0.04
R7792:Ska3 UTSW 14 57810055 missense probably damaging 0.97
R8108:Ska3 UTSW 14 57826102 missense probably damaging 1.00
R8362:Ska3 UTSW 14 57816648 missense probably benign 0.27
Posted On2013-04-17