Incidental Mutation 'R1532:Os9'
ID 166676
Institutional Source Beutler Lab
Gene Symbol Os9
Ensembl Gene ENSMUSG00000040462
Gene Name amplified in osteosarcoma
Synonyms 4632413K17Rik
MMRRC Submission 039571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1532 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126931519-126957000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126934771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 353 (V353M)
Ref Sequence ENSEMBL: ENSMUSP00000128914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000218798]
AlphaFold Q8K2C7
Predicted Effect probably damaging
Transcript: ENSMUST00000080975
AA Change: V353M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: V353M

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: V353M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: V353M

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 benign
Transcript: ENSMUST00000218798
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,166,302 (GRCm39) H394N probably benign Het
Ahrr A G 13: 74,361,826 (GRCm39) S558P probably benign Het
Ankrd26 T C 6: 118,499,919 (GRCm39) N1184S probably damaging Het
Anpep A T 7: 79,476,696 (GRCm39) C14* probably null Het
Arhgap18 A G 10: 26,736,718 (GRCm39) D187G possibly damaging Het
Arhgef5 A G 6: 43,250,337 (GRCm39) T363A probably benign Het
Atxn1 A T 13: 45,720,386 (GRCm39) L503Q possibly damaging Het
Babam1 A G 8: 71,852,277 (GRCm39) D155G possibly damaging Het
Bbs9 A G 9: 22,798,945 (GRCm39) T858A probably benign Het
Cacna1g C A 11: 94,334,157 (GRCm39) G828V probably damaging Het
Ccar2 T C 14: 70,380,405 (GRCm39) T392A probably benign Het
Cd163 T C 6: 124,289,689 (GRCm39) V469A possibly damaging Het
Cdh23 G T 10: 60,150,110 (GRCm39) N2576K probably damaging Het
Coro2b A G 9: 62,396,705 (GRCm39) Y18H probably damaging Het
Crispld2 G T 8: 120,750,311 (GRCm39) K238N probably benign Het
Ctnnd2 T C 15: 30,922,014 (GRCm39) I880T probably damaging Het
Cubn C A 2: 13,292,472 (GRCm39) C3237F probably damaging Het
Ddx31 A G 2: 28,771,171 (GRCm39) M519V probably benign Het
Dhx32 A T 7: 133,350,753 (GRCm39) C106S possibly damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnaaf1 T C 8: 120,304,162 (GRCm39) F67L probably benign Het
Duox1 T G 2: 122,175,204 (GRCm39) L1334R probably damaging Het
Dync1li2 A T 8: 105,152,667 (GRCm39) I322N probably damaging Het
Eml6 T C 11: 29,742,256 (GRCm39) probably null Het
Entpd6 A G 2: 150,600,670 (GRCm39) Q126R probably benign Het
Entpd7 C G 19: 43,679,516 (GRCm39) P23R possibly damaging Het
Epha3 T C 16: 63,366,541 (GRCm39) I970V probably benign Het
Fras1 A T 5: 96,861,855 (GRCm39) H2163L probably damaging Het
Gse1 C G 8: 121,294,949 (GRCm39) probably benign Het
Heatr5a A G 12: 51,999,301 (GRCm39) V300A probably damaging Het
Hsd3b1 T A 3: 98,760,214 (GRCm39) D259V probably damaging Het
Hspbap1 T C 16: 35,645,673 (GRCm39) S453P probably damaging Het
Ifnl3 A G 7: 28,223,652 (GRCm39) T163A probably benign Het
Igbp1b T A 6: 138,635,442 (GRCm39) M1L possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lpxn T C 19: 12,781,456 (GRCm39) probably null Het
Mast1 G A 8: 85,655,238 (GRCm39) Q249* probably null Het
Mink1 A G 11: 70,492,833 (GRCm39) D153G probably null Het
Mllt10 G A 2: 18,097,646 (GRCm39) probably null Het
Mpl C T 4: 118,305,765 (GRCm39) G420E possibly damaging Het
Ms4a1 T A 19: 11,230,557 (GRCm39) T215S probably benign Het
Ncapd3 C T 9: 26,994,656 (GRCm39) Q1179* probably null Het
Nr3c2 A G 8: 77,635,733 (GRCm39) H278R probably damaging Het
Or10v5 T C 19: 11,805,983 (GRCm39) I136V probably benign Het
Or52e18 T C 7: 104,609,472 (GRCm39) I156V probably benign Het
Or5b102 A G 19: 13,041,639 (GRCm39) Y288C probably damaging Het
Osbpl5 A T 7: 143,248,817 (GRCm39) M589K probably benign Het
Phf20 G T 2: 156,144,969 (GRCm39) G859V possibly damaging Het
Pkhd1 G A 1: 20,187,625 (GRCm39) T3561I probably benign Het
Prss46 G A 9: 110,679,236 (GRCm39) V146I probably benign Het
Ptprk G A 10: 28,461,626 (GRCm39) V1139M probably damaging Het
Ranbp10 A G 8: 106,500,963 (GRCm39) L396P probably benign Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Rbl2 G A 8: 91,833,045 (GRCm39) A659T probably benign Het
Rdm1 T C 11: 101,524,643 (GRCm39) L192P probably damaging Het
Reln A C 5: 22,239,742 (GRCm39) W842G probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sele A G 1: 163,881,420 (GRCm39) K509R probably benign Het
Slc15a1 A T 14: 121,713,396 (GRCm39) I377N possibly damaging Het
Slc17a3 G A 13: 24,040,483 (GRCm39) G269D probably damaging Het
Slc35a5 T C 16: 44,971,920 (GRCm39) T115A probably benign Het
Slc5a12 T G 2: 110,440,483 (GRCm39) N157K possibly damaging Het
Sphkap A G 1: 83,234,924 (GRCm39) V1634A probably damaging Het
Spta1 T C 1: 174,074,919 (GRCm39) S2382P probably damaging Het
Synj2 C A 17: 6,084,194 (GRCm39) S1100R probably benign Het
Tcf23 A G 5: 31,130,901 (GRCm39) T180A probably benign Het
Tnxb T C 17: 34,929,804 (GRCm39) V2846A probably damaging Het
Tpr T A 1: 150,293,751 (GRCm39) I915K probably damaging Het
Uba1y C T Y: 828,862 (GRCm39) H557Y probably benign Het
Unc45b T A 11: 82,827,700 (GRCm39) D730E probably benign Het
Unc5b A T 10: 60,605,011 (GRCm39) L734Q probably damaging Het
Vmn1r167 G T 7: 23,204,204 (GRCm39) H271N probably benign Het
Vmn2r76 A G 7: 85,879,454 (GRCm39) V282A probably benign Het
Xirp2 A G 2: 67,344,283 (GRCm39) K2175E probably benign Het
Other mutations in Os9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Os9 APN 10 126,933,845 (GRCm39) missense probably benign
IGL00978:Os9 APN 10 126,956,378 (GRCm39) missense probably damaging 1.00
IGL01683:Os9 APN 10 126,935,972 (GRCm39) missense probably damaging 1.00
IGL01862:Os9 APN 10 126,935,573 (GRCm39) missense probably benign 0.00
IGL01997:Os9 APN 10 126,955,312 (GRCm39) missense probably benign 0.00
IGL02035:Os9 APN 10 126,932,160 (GRCm39) missense possibly damaging 0.60
IGL02039:Os9 APN 10 126,932,160 (GRCm39) missense possibly damaging 0.60
IGL02134:Os9 APN 10 126,956,861 (GRCm39) missense possibly damaging 0.91
IGL02851:Os9 APN 10 126,935,262 (GRCm39) intron probably benign
IGL03169:Os9 APN 10 126,934,463 (GRCm39) missense probably benign 0.08
R0211:Os9 UTSW 10 126,956,905 (GRCm39) missense probably damaging 0.97
R0514:Os9 UTSW 10 126,955,508 (GRCm39) missense probably damaging 1.00
R0619:Os9 UTSW 10 126,956,860 (GRCm39) missense probably damaging 1.00
R0930:Os9 UTSW 10 126,932,924 (GRCm39) missense probably damaging 1.00
R2364:Os9 UTSW 10 126,955,007 (GRCm39) missense possibly damaging 0.90
R4600:Os9 UTSW 10 126,934,223 (GRCm39) missense probably benign 0.06
R4982:Os9 UTSW 10 126,956,920 (GRCm39) missense possibly damaging 0.92
R5850:Os9 UTSW 10 126,934,348 (GRCm39) utr 3 prime probably benign
R6148:Os9 UTSW 10 126,935,812 (GRCm39) missense probably benign 0.05
R6257:Os9 UTSW 10 126,955,006 (GRCm39) missense probably damaging 1.00
R6650:Os9 UTSW 10 126,935,953 (GRCm39) critical splice donor site probably null
R6731:Os9 UTSW 10 126,934,412 (GRCm39) missense probably benign
R7090:Os9 UTSW 10 126,935,547 (GRCm39) missense probably benign 0.06
R8909:Os9 UTSW 10 126,956,825 (GRCm39) critical splice donor site probably null
R9149:Os9 UTSW 10 126,933,918 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ATGCAGTTTGAAGGAGTCCGCC -3'
(R):5'- TGTCAGTTTGCCCACCTGTAGAATG -3'

Sequencing Primer
(F):5'- TTGAAGGAGTCCGCCGTAATATG -3'
(R):5'- CACCTGTAGAATGTGGCTGAAG -3'
Posted On 2014-04-13