Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Os9'

411776

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 #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

126931519-126957000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126934463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 391 (T391M)

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: T391M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: T391M

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: T391M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: T391M

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,658,624 (GRCm39)	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,652,019 (GRCm39)	Q2995L	probably damaging	Het
Capn9	T	C	8: 125,332,616 (GRCm39)	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,454,957 (GRCm39)	I197N	probably damaging	Het
Chl1	T	A	6: 103,642,928 (GRCm39)	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,953,764 (GRCm39)		probably benign	Het
Cyp2d12	T	C	15: 82,443,492 (GRCm39)	S485P	probably benign	Het
Ddx50	A	T	10: 62,457,166 (GRCm39)		probably null	Het
Dlgap4	C	A	2: 156,552,938 (GRCm39)		probably null	Het
Dpysl4	G	A	7: 138,679,826 (GRCm39)		probably null	Het
Erbin	T	C	13: 103,977,740 (GRCm39)	M606V	possibly damaging	Het
Fat4	T	G	3: 39,011,547 (GRCm39)	S2216A	probably benign	Het
Frem2	T	C	3: 53,429,713 (GRCm39)	N2779S	probably benign	Het
Fut1	T	C	7: 45,268,457 (GRCm39)	V82A	probably benign	Het
Gnb1l	C	T	16: 18,359,205 (GRCm39)	A2V	probably damaging	Het
Hdac1	C	T	4: 129,412,624 (GRCm39)	E327K	probably null	Het
Hdlbp	A	G	1: 93,344,309 (GRCm39)	V819A	possibly damaging	Het
Ift122	T	C	6: 115,882,922 (GRCm39)		probably benign	Het
Iqgap2	T	C	13: 95,867,785 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,913,884 (GRCm39)	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,373,645 (GRCm39)	V1458A	probably damaging	Het
Lef1	A	G	3: 130,988,312 (GRCm39)	K265R	probably damaging	Het
Lrp2	T	C	2: 69,353,538 (GRCm39)	D574G	probably damaging	Het
Mterf2	C	T	10: 84,956,324 (GRCm39)	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703 (GRCm38)	R155Q	probably damaging	Het
Obscn	T	C	11: 58,964,122 (GRCm39)	T3304A	probably damaging	Het
Or2j3	G	T	17: 38,615,992 (GRCm39)	S120Y	probably damaging	Het
Or4a78	A	G	2: 89,497,831 (GRCm39)	I133T	possibly damaging	Het
Parp6	C	A	9: 59,557,300 (GRCm39)	Y131*	probably null	Het
Plxdc1	T	C	11: 97,823,146 (GRCm39)	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Ptprc	A	T	1: 138,041,357 (GRCm39)	S167R	probably benign	Het
Rad54l2	T	C	9: 106,596,263 (GRCm39)	D225G	probably benign	Het
Rgs7	T	C	1: 175,098,401 (GRCm39)	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,192,183 (GRCm39)	D607G	probably damaging	Het
Shisa5	T	A	9: 108,885,560 (GRCm39)	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,338,496 (GRCm39)		probably benign	Het
Taf4b	T	G	18: 14,954,592 (GRCm39)	V556G	probably damaging	Het
Tgif1	A	C	17: 71,151,836 (GRCm39)	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,481,284 (GRCm39)		probably benign	Het
Vmn1r113	A	T	7: 20,522,012 (GRCm39)	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,692,005 (GRCm39)	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,913,821 (GRCm39)	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,882,426 (GRCm39)	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,553,022 (GRCm39)	Y713C	probably 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
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

2016-08-02