Incidental Mutation 'IGL02134:Os9'
ID281213
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 #IGL02134
Quality Score
Status
Chromosome10
Chromosomal Location127095650-127121131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127120992 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 42 (I42V)
Ref Sequence ENSEMBL: ENSMUSP00000151466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000218798]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080975
AA Change: I43V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: I43V

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 possibly damaging
Transcript: ENSMUST00000164259
AA Change: I43V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: I43V

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 possibly damaging
Transcript: ENSMUST00000218798
AA Change: I42V

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Os9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Os9 APN 10 127097976 missense probably benign
IGL00978:Os9 APN 10 127120509 missense probably damaging 1.00
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
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 On2015-04-16