Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Os9'

184660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Os9

Ensembl Gene

ENSMUSG00000040462

Gene Name

amplified in osteosarcoma

Synonyms

4632413K17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

126931519-126957000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126932160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 604 (P604S)

Ref Sequence

ENSEMBL: ENSMUSP00000079770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941] [ENSMUST00000218798]

AlphaFold

Q8K2C7

Predicted Effect

probably benign
Transcript: ENSMUST00000039259

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	86	111	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
low complexity region	137	149	N/A	INTRINSIC
low complexity region	151	176	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
low complexity region	197	207	N/A	INTRINSIC
low complexity region	222	257	N/A	INTRINSIC
low complexity region	306	322	N/A	INTRINSIC
low complexity region	349	376	N/A	INTRINSIC
Pfam:Ras	402	562	3.6e-16	PFAM
low complexity region	575	590	N/A	INTRINSIC
low complexity region	600	609	N/A	INTRINSIC
PH	671	906	4.35e-14	SMART
ArfGap	925	1045	8.8e-62	SMART
low complexity region	1052	1071	N/A	INTRINSIC
ANK	1084	1113	1.15e0	SMART
ANK	1117	1145	3.69e2	SMART
low complexity region	1148	1175	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080975
AA Change: P604S

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: P604S

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: P659S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: P659S

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: ENSMUST00000217941

Predicted Effect

probably benign
Transcript: ENSMUST00000218798

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	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
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
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

Posted On

2014-05-07