Incidental Mutation 'IGL00978:Os9'
ID28426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Os9
Ensembl Gene ENSMUSG00000040462
Gene Nameamplified in osteosarcoma
Synonyms4632413K17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00978
Quality Score
Status
Chromosome10
Chromosomal Location127095650-127121131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127120509 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 66 (Y66N)
Ref Sequence ENSEMBL: ENSMUSP00000151466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000218798]
Predicted Effect probably damaging
Transcript: ENSMUST00000080975
AA Change: Y67N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: Y67N

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 2.3e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 533 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164259
AA Change: Y67N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: Y67N

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:PRKCSH 108 181 8.6e-19 PFAM
low complexity region 317 331 N/A INTRINSIC
low complexity region 337 346 N/A INTRINSIC
coiled coil region 418 449 N/A INTRINSIC
low complexity region 518 551 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218798
AA Change: Y66N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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 protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Gmeb2 A T 2: 181,259,043 V187E probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mcm8 A G 2: 132,821,406 N148S probably benign Het
Mylk3 A T 8: 85,355,526 L211* probably null Het
Nras T C 3: 103,058,916 probably benign Het
Olfr135 A T 17: 38,208,982 I246F probably damaging Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Reg3a A T 6: 78,382,301 R95* probably null Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging Het
Other mutations in Os9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Os9 APN 10 127097976 missense probably benign
IGL01683:Os9 APN 10 127100103 missense probably damaging 1.00
IGL01862:Os9 APN 10 127099704 missense probably benign 0.00
IGL01997:Os9 APN 10 127119443 missense probably benign 0.00
IGL02035:Os9 APN 10 127096291 missense possibly damaging 0.60
IGL02039:Os9 APN 10 127096291 missense possibly damaging 0.60
IGL02134:Os9 APN 10 127120992 missense possibly damaging 0.91
IGL02851:Os9 APN 10 127099393 intron probably benign
IGL03169:Os9 APN 10 127098594 missense probably benign 0.08
R0211:Os9 UTSW 10 127121036 missense probably damaging 0.97
R0514:Os9 UTSW 10 127119639 missense probably damaging 1.00
R0619:Os9 UTSW 10 127120991 missense probably damaging 1.00
R0930:Os9 UTSW 10 127097055 missense probably damaging 1.00
R1532:Os9 UTSW 10 127098902 missense probably damaging 1.00
R2364:Os9 UTSW 10 127119138 missense possibly damaging 0.90
R4600:Os9 UTSW 10 127098354 missense probably benign 0.06
R4982:Os9 UTSW 10 127121051 missense possibly damaging 0.92
R5850:Os9 UTSW 10 127098479 utr 3 prime probably benign
R6148:Os9 UTSW 10 127099943 missense probably benign 0.05
R6257:Os9 UTSW 10 127119137 missense probably damaging 1.00
R6650:Os9 UTSW 10 127100084 critical splice donor site probably null
R6731:Os9 UTSW 10 127098543 missense probably benign
R7090:Os9 UTSW 10 127099678 missense probably benign 0.06
Posted On2013-04-17