Incidental Mutation 'IGL01969:Ska3'
ID 181638
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 # IGL01969
Quality Score
Status
Chromosome 14
Chromosomal Location 58044018-58063642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58049119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000022536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536]
AlphaFold Q8C263
Predicted Effect probably benign
Transcript: ENSMUST00000022536
AA Change: V284A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: V284A

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225646
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 124,207,170 (GRCm39) P74H probably damaging Het
Aire T A 10: 77,878,816 (GRCm39) D77V probably damaging Het
Ank2 T A 3: 126,746,872 (GRCm39) H571L possibly damaging Het
Apol10b T C 15: 77,472,885 (GRCm39) probably null Het
Cacna2d2 A T 9: 107,386,415 (GRCm39) M181L probably benign Het
Ccnl1 T C 3: 65,855,908 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,138 (GRCm39) E1961G possibly damaging Het
Dnajc12 C A 10: 63,231,609 (GRCm39) H42N probably damaging Het
Eml4 T C 17: 83,753,409 (GRCm39) V248A possibly damaging Het
Epha10 A C 4: 124,779,670 (GRCm39) K172T probably damaging Het
Fat1 T C 8: 45,405,636 (GRCm39) Y796H probably damaging Het
Gpr176 A C 2: 118,110,118 (GRCm39) F380L probably damaging Het
Guca1a A T 17: 47,711,268 (GRCm39) M26K probably damaging Het
Gucy2g T G 19: 55,215,870 (GRCm39) M501L probably benign Het
Herc2 T C 7: 55,835,579 (GRCm39) probably benign Het
Itgav A G 2: 83,633,627 (GRCm39) E1028G probably damaging Het
Itpr1 A G 6: 108,354,652 (GRCm39) T179A probably damaging Het
Lpin2 A G 17: 71,538,502 (GRCm39) T383A probably benign Het
Midn A G 10: 79,991,093 (GRCm39) T325A probably benign Het
Mpdz A G 4: 81,276,961 (GRCm39) Y788H probably damaging Het
Muc1 A T 3: 89,139,313 (GRCm39) D571V probably damaging Het
Myo3a A T 2: 22,302,499 (GRCm39) H316L probably benign Het
Nagpa T C 16: 5,013,753 (GRCm39) K362E probably benign Het
Ola1 G A 2: 72,930,490 (GRCm39) A266V probably benign Het
Or1e33 T C 11: 73,738,435 (GRCm39) N172S possibly damaging Het
Or4a47 A G 2: 89,666,064 (GRCm39) I75T probably benign Het
Or5b97 C A 19: 12,878,416 (GRCm39) A243S possibly damaging Het
Otof A G 5: 30,539,827 (GRCm39) probably benign Het
Pi4ka A C 16: 17,196,347 (GRCm39) V105G probably benign Het
Plppr4 G T 3: 117,122,008 (GRCm39) T190K probably damaging Het
Pnpla3 G A 15: 84,063,425 (GRCm39) A268T probably benign Het
Ppp6r2 C T 15: 89,159,713 (GRCm39) H467Y probably damaging Het
Prkd2 C T 7: 16,599,682 (GRCm39) T715M probably damaging Het
Rusc2 A G 4: 43,415,738 (GRCm39) N348S probably benign Het
Slc23a1 A T 18: 35,757,807 (GRCm39) V199D possibly damaging Het
Slc6a13 T C 6: 121,312,601 (GRCm39) L445P probably damaging Het
Smo A T 6: 29,755,171 (GRCm39) probably null Het
Tmem131 A G 1: 36,864,541 (GRCm39) L564S possibly damaging Het
Ttc23l G A 15: 10,551,520 (GRCm39) Q69* probably null Het
Other mutations in Ska3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Ska3 APN 14 58,059,581 (GRCm39) missense possibly damaging 0.95
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
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 2014-05-07