Incidental Mutation 'IGL01969:Ska3'
ID181638
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: 0.914) question?
Stock #IGL01969
Quality Score
Status
Chromosome14
Chromosomal Location57806561-57826185 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57811662 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000022536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536]
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: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Epha10 A C 4: 124,885,877 K172T probably damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Guca1a A T 17: 47,400,343 M26K probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Nagpa T C 16: 5,195,889 K362E probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr1447 C A 19: 12,901,052 A243S possibly damaging Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Pnpla3 G A 15: 84,179,224 A268T probably benign Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Ska3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Ska3 APN 14 57822124 missense possibly damaging 0.95
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 On2014-05-07