Mutagenetix > Incidental Mutation

Incidental Mutation 'R6731:Os9'

530070

Institutional Source

Beutler Lab

Gene Symbol

Os9

Ensembl Gene

ENSMUSG00000040462

Gene Name

amplified in osteosarcoma

Synonyms

4632413K17Rik

MMRRC Submission

044849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126931519-126957000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126934412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 408 (G408D)

Ref Sequence

ENSEMBL: ENSMUSP00000128914 (fasta)

Gene Model

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

AlphaFold

Q8K2C7

Predicted Effect

probably benign
Transcript: ENSMUST00000080975
AA Change: G408D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: G408D

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 benign
Transcript: ENSMUST00000164259
AA Change: G408D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: G408D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	G	A	8: 124,619,956 (GRCm39)	T128I	probably damaging	Het
Ahnak	T	A	19: 8,988,926 (GRCm39)	D3403E	possibly damaging	Het
Aldoc	T	A	11: 78,216,918 (GRCm39)	D319E	probably benign	Het
Ank3	T	A	10: 69,849,858 (GRCm39)	D1108E	possibly damaging	Het
Ankrd7	G	A	6: 18,866,653 (GRCm39)	G58S	probably damaging	Het
Ass1	A	T	2: 31,404,796 (GRCm39)	Y359F	probably damaging	Het
B3gnt2	G	T	11: 22,786,888 (GRCm39)	S100*	probably null	Het
Cd46	T	C	1: 194,765,775 (GRCm39)		probably null	Het
Chst5	G	T	8: 112,616,676 (GRCm39)	R315S	probably benign	Het
Cps1	T	C	1: 67,200,030 (GRCm39)	S393P	probably damaging	Het
Dis3l	T	C	9: 64,217,720 (GRCm39)		probably null	Het
Fgg	T	C	3: 82,920,208 (GRCm39)	F329S	probably damaging	Het
Hsp90b1	T	C	10: 86,537,769 (GRCm39)	T179A	probably benign	Het
Kat2a	A	T	11: 100,599,099 (GRCm39)	M559K	probably damaging	Het
Klhl41	T	C	2: 69,505,044 (GRCm39)	I449T	probably damaging	Het
Lama5	A	T	2: 179,830,367 (GRCm39)	I1880N	probably benign	Het
Lcp1	A	G	14: 75,443,629 (GRCm39)	D215G	probably damaging	Het
Lrch3	A	G	16: 32,770,790 (GRCm39)	T131A	probably damaging	Het
Mroh6	T	C	15: 75,760,341 (GRCm39)	T78A	probably benign	Het
Naa15	T	G	3: 51,363,294 (GRCm39)	V326G	probably damaging	Het
Nalcn	T	A	14: 123,837,346 (GRCm39)	Q6L	probably benign	Het
Nipbl	T	A	15: 8,352,074 (GRCm39)	I1863L	probably damaging	Het
Obi1	C	T	14: 104,716,910 (GRCm39)	V488I	probably benign	Het
Pcbp2	T	C	15: 102,397,225 (GRCm39)	S237P	probably damaging	Het
Pcdhb10	G	A	18: 37,546,529 (GRCm39)	R535H	probably benign	Het
Pex5l	A	T	3: 33,012,947 (GRCm39)	I320K	probably damaging	Het
Pgm2	T	C	5: 64,258,318 (GRCm39)	F101S	probably benign	Het
Phf8-ps	A	G	17: 33,285,200 (GRCm39)	V534A	probably benign	Het
Poc1b	T	A	10: 98,988,733 (GRCm39)	D207E	probably null	Het
Pou6f1	T	C	15: 100,477,764 (GRCm39)	I460V	possibly damaging	Het
Rnf17	A	T	14: 56,761,807 (GRCm39)	Q1623H	possibly damaging	Het
Rpap1	T	C	2: 119,608,777 (GRCm39)	N195S	probably benign	Het
Sacs	C	A	14: 61,418,149 (GRCm39)		probably null	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Sele	C	T	1: 163,881,242 (GRCm39)	L481F	probably damaging	Het
Stk32a	A	G	18: 43,438,143 (GRCm39)	Y214C	probably damaging	Het
Tex44	T	A	1: 86,354,207 (GRCm39)	S39T	probably benign	Het
Tmem135	A	T	7: 88,893,172 (GRCm39)	M140K	possibly damaging	Het
Tox2	A	G	2: 163,162,297 (GRCm39)	Y354C	probably damaging	Het
Trim21	A	T	7: 102,208,419 (GRCm39)	F433L	probably damaging	Het
Trim24	T	C	6: 37,920,420 (GRCm39)	F406L	probably damaging	Het
Ubr1	G	C	2: 120,786,121 (GRCm39)	H166Q	probably null	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp141	T	C	7: 42,138,924 (GRCm39)	D36G	probably damaging	Het
Zfp729a	C	T	13: 67,768,265 (GRCm39)	V655I	probably benign	Het
Zfp974	A	T	7: 27,611,074 (GRCm39)	V217E	possibly damaging	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
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
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
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'- CATGCCAGCCTTAACCTCAG -3'
(R):5'- GCTTTGCCTGGGATAAACTG -3'

Sequencing Primer
(F):5'- AGCCTTAACCTCAGAGCGGAG -3'
(R):5'- CTGGGATAAACTGGCGCC -3'

Posted On

2018-08-01