Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Osgin1'

443575

Institutional Source

Beutler Lab

Gene Symbol

Osgin1

Ensembl Gene

ENSMUSG00000074063

Gene Name

oxidative stress induced growth inhibitor 1

Synonyms

1700012B18Rik

MMRRC Submission

043322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120160874-120172996 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 120171728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 173 (*173W)

Ref Sequence

ENSEMBL: ENSMUSP00000095968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098363] [ENSMUST00000098365] [ENSMUST00000131448] [ENSMUST00000152420] [ENSMUST00000212112]

AlphaFold

Q8VC10

Predicted Effect

probably benign
Transcript: ENSMUST00000098363

SMART Domains

Protein: ENSMUSP00000095966
Gene: ENSMUSG00000031837

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
EFh	67	95	4.06e-2	SMART
EFh	101	129	3.21e0	SMART
low complexity region	185	196	N/A	INTRINSIC
Pfam:ABM	289	363	2.1e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098365
AA Change: *173W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126414

Predicted Effect

probably benign
Transcript: ENSMUST00000131448

SMART Domains

Protein: ENSMUSP00000120477
Gene: ENSMUSG00000074063

Domain	Start	End	E-Value	Type
SCOP:d1foha5	12	38	9e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145604

Predicted Effect

probably damaging
Transcript: ENSMUST00000152420
AA Change: D174G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: D174G

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	205	465	3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212112

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gcnt1	T	A	19: 17,306,768 (GRCm39)	D319V	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Gstm5	T	C	3: 107,803,981 (GRCm39)	F54S	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rev3l	T	C	10: 39,670,954 (GRCm39)	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc5a10	C	T	11: 61,598,710 (GRCm39)	M223I	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Smg8	A	G	11: 86,975,949 (GRCm39)	F544S	probably damaging	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	probably damaging	Het

Other mutations in Osgin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Osgin1	APN	8	120,171,785 (GRCm39)	missense	probably damaging	0.97
IGL02347:Osgin1	APN	8	120,172,277 (GRCm39)	missense	probably benign	0.02
IGL02803:Osgin1	APN	8	120,170,006 (GRCm39)	missense	probably benign	0.00
IGL03111:Osgin1	APN	8	120,169,788 (GRCm39)	missense	probably damaging	0.96
R0137:Osgin1	UTSW	8	120,169,219 (GRCm39)	missense	possibly damaging	0.73
R0265:Osgin1	UTSW	8	120,172,396 (GRCm39)	missense	possibly damaging	0.94
R0520:Osgin1	UTSW	8	120,169,247 (GRCm39)	missense	probably damaging	1.00
R0650:Osgin1	UTSW	8	120,172,211 (GRCm39)	missense	probably damaging	1.00
R0652:Osgin1	UTSW	8	120,172,211 (GRCm39)	missense	probably damaging	1.00
R0687:Osgin1	UTSW	8	120,172,571 (GRCm39)	missense	probably damaging	1.00
R1439:Osgin1	UTSW	8	120,169,852 (GRCm39)	splice site	probably null
R1469:Osgin1	UTSW	8	120,172,124 (GRCm39)	missense	possibly damaging	0.95
R1469:Osgin1	UTSW	8	120,172,124 (GRCm39)	missense	possibly damaging	0.95
R1470:Osgin1	UTSW	8	120,171,704 (GRCm39)	missense	probably damaging	1.00
R1470:Osgin1	UTSW	8	120,171,704 (GRCm39)	missense	probably damaging	1.00
R2058:Osgin1	UTSW	8	120,172,412 (GRCm39)	missense	possibly damaging	0.87
R2982:Osgin1	UTSW	8	120,169,274 (GRCm39)	missense	probably damaging	1.00
R3880:Osgin1	UTSW	8	120,168,191 (GRCm39)	missense	probably benign
R4076:Osgin1	UTSW	8	120,171,772 (GRCm39)	missense	possibly damaging	0.64
R4594:Osgin1	UTSW	8	120,171,992 (GRCm39)	missense	possibly damaging	0.49
R4914:Osgin1	UTSW	8	120,169,283 (GRCm39)	missense	possibly damaging	0.91
R4991:Osgin1	UTSW	8	120,172,028 (GRCm39)	missense	probably damaging	1.00
R6215:Osgin1	UTSW	8	120,172,183 (GRCm39)	missense	probably benign	0.01
R7008:Osgin1	UTSW	8	120,168,233 (GRCm39)	missense	possibly damaging	0.92
R7136:Osgin1	UTSW	8	120,168,176 (GRCm39)	start codon destroyed	probably null	0.51
R7380:Osgin1	UTSW	8	120,172,170 (GRCm39)	missense	probably benign	0.44
R7840:Osgin1	UTSW	8	120,171,773 (GRCm39)	missense	possibly damaging	0.78
R9674:Osgin1	UTSW	8	120,172,499 (GRCm39)	missense	possibly damaging	0.94
R9689:Osgin1	UTSW	8	120,172,247 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TTTCAGGCTTTGGATGGTACCC -3'
(R):5'- TGTGGCCAGGACCACATTAC -3'

Sequencing Primer
(F):5'- ATGGTACCCTTGTTAGTTCTGC -3'
(R):5'- ATTACGGGCCCGCAGTGAG -3'

Posted On

2016-11-09