Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Os9'

28426

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Os9

Ensembl Gene

ENSMUSG00000040462

Gene Name

amplified in osteosarcoma

Synonyms

4632413K17Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

127095650-127121131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127120509 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2013-04-17