Incidental Mutation 'IGL02539:Ska3'
ID 297625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ska3
Ensembl Gene ENSMUSG00000021965
Gene Name spindle and kinetochore associated complex subunit 3
Synonyms F630043A04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL02539
Quality Score
Status
Chromosome 14
Chromosomal Location 58044018-58063642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58057968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 128 (D128G)
Ref Sequence ENSEMBL: ENSMUSP00000022536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536]
AlphaFold Q8C263
Predicted Effect possibly damaging
Transcript: ENSMUST00000022536
AA Change: D128G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: D128G

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223726
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,229 (GRCm39) Y479* probably null Het
Btnl6 T C 17: 34,727,288 (GRCm39) N414S probably benign Het
Ccdc180 A G 4: 45,921,005 (GRCm39) N984D probably damaging Het
Cfc1 A T 1: 34,576,203 (GRCm39) probably benign Het
Chrm1 G A 19: 8,655,675 (GRCm39) V127M probably damaging Het
Dicer1 A G 12: 104,663,294 (GRCm39) L1429P probably damaging Het
Erbb3 A G 10: 128,420,174 (GRCm39) probably null Het
Evi5 T C 5: 107,963,531 (GRCm39) E348G probably benign Het
Fat2 G A 11: 55,172,619 (GRCm39) T2698I probably damaging Het
Gas2 A G 7: 51,547,038 (GRCm39) D63G possibly damaging Het
Gm28042 A G 2: 119,865,702 (GRCm39) D313G probably damaging Het
Hivep2 T A 10: 14,007,622 (GRCm39) S1407T probably damaging Het
Ibsp T A 5: 104,450,149 (GRCm39) M19K probably damaging Het
Itih3 C T 14: 30,634,621 (GRCm39) D129N probably benign Het
Krtap4-8 A T 11: 99,671,196 (GRCm39) probably benign Het
Mertk A G 2: 128,643,210 (GRCm39) T870A probably damaging Het
Mtmr11 C A 3: 96,072,308 (GRCm39) probably benign Het
Nbas C A 12: 13,322,704 (GRCm39) probably benign Het
Nlrp4b A G 7: 10,448,355 (GRCm39) D186G probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or10a5 T A 7: 106,635,641 (GRCm39) I93N probably damaging Het
Pdk2 T C 11: 94,923,321 (GRCm39) K101R probably benign Het
Pds5a C T 5: 65,823,462 (GRCm39) D110N probably damaging Het
Pex5 A T 6: 124,380,183 (GRCm39) D288E probably benign Het
Pitrm1 A G 13: 6,618,792 (GRCm39) D655G probably benign Het
Plcz1 T C 6: 139,938,690 (GRCm39) N554S probably benign Het
Plin4 T C 17: 56,413,680 (GRCm39) Q315R probably damaging Het
Plpp5 A G 8: 26,214,215 (GRCm39) H244R probably benign Het
Ppp1r3a C T 6: 14,718,458 (GRCm39) V819I probably benign Het
Rap1b T A 10: 117,658,709 (GRCm39) R41S possibly damaging Het
Rc3h2 T A 2: 37,279,727 (GRCm39) S501C probably benign Het
Sel1l2 G T 2: 140,072,778 (GRCm39) A619D probably damaging Het
Specc1l A T 10: 75,103,342 (GRCm39) I889L probably benign Het
Ssxb5 T A X: 8,675,087 (GRCm39) N130K probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tet1 T C 10: 62,648,798 (GRCm39) Q267R possibly damaging Het
Tlr8 T A X: 166,027,152 (GRCm39) H566L possibly damaging Het
Tmem132d T A 5: 127,861,043 (GRCm39) Q1026L probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trp53bp2 C A 1: 182,276,256 (GRCm39) P746T probably damaging Het
Uso1 A T 5: 92,335,632 (GRCm39) I547F probably damaging Het
Zfp687 A C 3: 94,918,373 (GRCm39) N466K 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
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
R3737:Ska3 UTSW 14 58,049,053 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16