Mutagenetix > Incidental Mutations

Incidental Mutation 'R2364:Os9'

247278

Institutional Source

Beutler Lab

Gene Symbol

Os9

Ensembl Gene

ENSMUSG00000040462

Gene Name

amplified in osteosarcoma

Synonyms

4632413K17Rik

MMRRC Submission

040345-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2364 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127095650-127121131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127119138 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 180 (K180N)

Ref Sequence

ENSEMBL: ENSMUSP00000128914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000218798]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080975
AA Change: K180N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: K180N

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

possibly damaging
Transcript: ENSMUST00000164259
AA Change: K180N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: K180N

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 benign
Transcript: ENSMUST00000218798

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 138,165,823	S268P	probably benign	Het
Adam6a	A	G	12: 113,544,630	K208E	probably benign	Het
Anks6	A	G	4: 47,027,248	S725P	possibly damaging	Het
Asb3	A	G	11: 31,101,192	I549V	probably benign	Het
Blvrb	A	G	7: 27,448,133	I6V	possibly damaging	Het
Cabs1	A	T	5: 87,980,233	T248S	probably benign	Het
Cdk5rap2	A	G	4: 70,360,809		probably null	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Fpr1	A	T	17: 17,877,610	L39*	probably null	Het
Gstm5	A	G	3: 107,896,371	E40G	probably benign	Het
Hnrnpr	A	G	4: 136,327,329	M97V	possibly damaging	Het
Hs6st1	T	C	1: 36,068,719	V21A	probably benign	Het
Hsp90aa1	A	T	12: 110,692,753	F537I	probably damaging	Het
Insr	T	C	8: 3,174,820	D216G	probably benign	Het
Kif2a	A	T	13: 106,976,836	N428K	probably damaging	Het
Mapk10	G	T	5: 103,038,641	N38K	possibly damaging	Het
Myh8	A	G	11: 67,294,518	E865G	probably benign	Het
Olfr1328	C	T	4: 118,934,033	E272K	probably benign	Het
Olfr1457	A	G	19: 13,094,754	V298A	probably damaging	Het
Olfr357	T	C	2: 36,997,565	Y252H	probably damaging	Het
Olfr731	A	T	14: 50,238,155	H243Q	probably damaging	Het
Pcdhb20	A	T	18: 37,505,938	I506F	probably damaging	Het
Pros1	T	G	16: 62,913,848	L339R	probably damaging	Het
Srp72	A	G	5: 76,984,362	I266V	probably benign	Het
Tmem245	A	G	4: 56,899,391	V632A	probably damaging	Het
Tpcn1	G	T	5: 120,553,494	C298*	probably null	Het
Ubfd1	T	A	7: 122,068,944	D232E	probably benign	Het
Vamp1	A	T	6: 125,240,343	I117L	probably benign	Het
Wwtr1	T	C	3: 57,462,603	T364A	possibly damaging	Het
Zfp143	C	A	7: 110,083,242	T339K	probably damaging	Het
Zfp317	A	G	9: 19,647,735	D415G	probably benign	Het
Zfp628	A	G	7: 4,920,687	H636R	probably damaging	Het
Zfp651	C	T	9: 121,767,594	P672L	probably damaging	Het

Other mutations in Os9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAGGGTAGCCTGTGGTAAAC -3'
(R):5'- GTCACATTGAGCTGGTGTGC -3'

Sequencing Primer
(F):5'- TGTGGTAAACGAAGAGTTAAATTACC -3'
(R):5'- CATTGAGCTGGTGTGCCTCTTG -3'

Posted On

2014-10-30