Incidental Mutation 'IGL03344:Ska2'
ID417392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ska2
Ensembl Gene ENSMUSG00000020492
Gene Namespindle and kinetochore associated complex subunit 2
Synonyms1110001A07Rik, Ska2
Accession Numbers

Genbank: NM_025377; MGI: 1913390

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03344
Quality Score
Status
Chromosome11
Chromosomal Location87109234-87124635 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 87109313 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020794] [ENSMUST00000051395]
Predicted Effect probably benign
Transcript: ENSMUST00000020794
SMART Domains Protein: ENSMUSP00000020794
Gene: ENSMUSG00000020492

DomainStartEndE-ValueType
Pfam:SKA2 2 115 3.4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051395
SMART Domains Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
low complexity region 135 152 N/A INTRINSIC
low complexity region 184 212 N/A INTRINSIC
low complexity region 350 363 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142263
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Ska2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ska2 APN 11 87109265 unclassified probably benign
IGL01727:Ska2 APN 11 87116147 missense probably damaging 1.00
IGL03341:Ska2 APN 11 87116164 missense probably benign 0.01
N/A - 535:Ska2 UTSW 11 87117854 splice site probably benign
R0313:Ska2 UTSW 11 87117814 missense possibly damaging 0.46
R1537:Ska2 UTSW 11 87116119 missense probably damaging 1.00
Posted On2016-08-02