Mutagenetix > Incidental Mutation

Incidental Mutation 'R0619:Os9'

58547

Institutional Source

Beutler Lab

Gene Symbol

Os9

Ensembl Gene

ENSMUSG00000040462

Gene Name

amplified in osteosarcoma

Synonyms

4632413K17Rik

MMRRC Submission

038808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0619 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

126931519-126957000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126956860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 43 (I43T)

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: I43T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: I43T

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: I43T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: I43T

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: I42T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,339,739 (GRCm39)	D74N	probably benign	Het
Adgre4	T	A	17: 56,127,679 (GRCm39)	V573D	possibly damaging	Het
Ak7	A	G	12: 105,699,770 (GRCm39)	K230E	probably damaging	Het
Amdhd2	T	C	17: 24,375,562 (GRCm39)	D375G	possibly damaging	Het
Anpep	T	C	7: 79,490,757 (GRCm39)	E253G	probably benign	Het
Bbs7	A	G	3: 36,661,725 (GRCm39)	L158S	probably benign	Het
Bdp1	T	C	13: 100,174,366 (GRCm39)	T2057A	probably benign	Het
C2	G	T	17: 35,091,479 (GRCm39)	H61Q	probably damaging	Het
Ccdc18	A	G	5: 108,328,282 (GRCm39)	K661E	probably benign	Het
Cdh23	C	T	10: 60,269,556 (GRCm39)	V655I	probably damaging	Het
Cep78	T	C	19: 15,956,226 (GRCm39)	T238A	probably damaging	Het
Ces2a	T	A	8: 105,462,742 (GRCm39)	N110K	probably benign	Het
Crat	T	C	2: 30,299,996 (GRCm39)	D128G	probably benign	Het
Dclre1a	A	T	19: 56,533,841 (GRCm39)	M233K	probably benign	Het
Dsg4	T	C	18: 20,594,416 (GRCm39)	V515A	probably benign	Het
Fer1l6	T	C	15: 58,534,784 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,226,074 (GRCm39)	D1863G	probably benign	Het
Fsip2	T	A	2: 82,774,484 (GRCm39)	L57Q	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Iqsec1	T	C	6: 90,647,388 (GRCm39)		probably null	Het
Kcnn3	A	C	3: 89,559,337 (GRCm39)	T536P	probably damaging	Het
Kctd3	T	C	1: 188,710,840 (GRCm39)	D441G	probably damaging	Het
Kifc3	G	A	8: 95,829,293 (GRCm39)	T528M	probably benign	Het
Kmt2c	G	A	5: 25,503,914 (GRCm39)	T3798I	probably benign	Het
Map1a	T	A	2: 121,135,736 (GRCm39)	M1946K	probably damaging	Het
Mfhas1	T	A	8: 36,057,829 (GRCm39)	V768E	probably benign	Het
Mroh8	C	A	2: 157,107,001 (GRCm39)	V223F	possibly damaging	Het
Mss51	A	T	14: 20,537,641 (GRCm39)	V30E	probably benign	Het
Mtmr10	G	A	7: 63,970,961 (GRCm39)	R392H	probably benign	Het
Mup3	T	C	4: 62,004,198 (GRCm39)	N105S	probably benign	Het
Myh7b	T	C	2: 155,453,642 (GRCm39)	M22T	probably benign	Het
Or1o2	T	A	17: 37,543,046 (GRCm39)	I72F	possibly damaging	Het
Or2aj5	T	A	16: 19,425,022 (GRCm39)	Y132F	probably damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Pkhd1l1	T	C	15: 44,347,234 (GRCm39)	L200P	probably damaging	Het
Ptpru	C	T	4: 131,548,198 (GRCm39)	V100M	possibly damaging	Het
Rnf6	G	A	5: 146,147,531 (GRCm39)	R496C	possibly damaging	Het
Rsad1	C	T	11: 94,433,465 (GRCm39)	R407Q	probably damaging	Het
Rspo3	T	C	10: 29,380,633 (GRCm39)	D127G	probably damaging	Het
Sbf2	T	A	7: 109,909,469 (GRCm39)	T1760S	possibly damaging	Het
Sh2d3c	T	A	2: 32,643,037 (GRCm39)	V588E	probably damaging	Het
Siglech	A	T	7: 55,418,910 (GRCm39)	T238S	probably benign	Het
Slc15a2	T	A	16: 36,579,669 (GRCm39)	N328I	probably damaging	Het
Slc16a11	G	T	11: 70,105,858 (GRCm39)	G94C	probably damaging	Het
Stub1	T	C	17: 26,050,296 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,318,483 (GRCm39)	V40D	probably damaging	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Trappc14	A	G	5: 138,262,088 (GRCm39)		probably benign	Het
Tsen54	A	G	11: 115,705,890 (GRCm39)	E69G	probably damaging	Het
Tsks	A	G	7: 44,600,258 (GRCm39)	E150G	probably damaging	Het
Ubap2l	A	C	3: 89,924,527 (GRCm39)	V680G	probably benign	Het
Usp16	A	T	16: 87,269,052 (GRCm39)	H315L	probably benign	Het
Vav2	A	G	2: 27,186,133 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,256,715 (GRCm39)	F1562L	possibly damaging	Het
Zfp764	C	A	7: 127,005,713 (GRCm39)	V22L	probably benign	Het

Other mutations in Os9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0930:Os9	UTSW	10	126,932,924 (GRCm39)	missense	probably damaging	1.00
R1532:Os9	UTSW	10	126,934,771 (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'- ACGACCTGGGGAACTAAGGTCTAC -3'
(R):5'- CAATGAAAGCTTGGGGCGCTAATG -3'

Sequencing Primer
(F):5'- CTAAGGTCTACAGTGGGGAGC -3'
(R):5'- CTAATGGGCGGGTGAGGC -3'

Posted On

2013-07-11