Mutagenetix > Incidental Mutation

Incidental Mutation 'R9689:Osgin1'

729048

Institutional Source

Beutler Lab

Gene Symbol

Osgin1

Ensembl Gene

ENSMUSG00000074063

Gene Name

oxidative stress induced growth inhibitor 1

Synonyms

1700012B18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120160874-120172996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120172247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 347 (D347G)

Ref Sequence

ENSEMBL: ENSMUSP00000114467 (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 benign
Transcript: ENSMUST00000098365

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

possibly damaging
Transcript: ENSMUST00000152420
AA Change: D347G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: D347G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212112

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,780 (GRCm39)	V1538E	probably damaging	Het
Ank1	T	C	8: 23,631,253 (GRCm39)	V1833A	probably benign	Het
Apc2	G	A	10: 80,150,733 (GRCm39)	R1929Q	probably damaging	Het
Asb1	A	G	1: 91,474,708 (GRCm39)	I85V	probably damaging	Het
Bco2	A	T	9: 50,445,938 (GRCm39)	I486K	probably damaging	Het
Braf	T	A	6: 39,591,084 (GRCm39)	I792F	probably damaging	Het
Cacng2	T	C	15: 77,879,399 (GRCm39)	K308E	possibly damaging	Het
Ccr6	G	T	17: 8,475,821 (GRCm39)	R342L	possibly damaging	Het
Cdh16	T	A	8: 105,341,108 (GRCm39)	I802F	probably benign	Het
Cftr	T	C	6: 18,313,649 (GRCm39)	I1291T	probably damaging	Het
CN725425	T	A	15: 91,120,030 (GRCm39)	D50E	possibly damaging	Het
Cnga1	T	C	5: 72,762,170 (GRCm39)	Y448C	probably benign	Het
Cntnap1	T	C	11: 101,072,178 (GRCm39)	I477T	probably damaging	Het
Col18a1	G	A	10: 76,916,578 (GRCm39)	Q366*	probably null	Het
Csf3	C	A	11: 98,592,949 (GRCm39)	A104D	probably benign	Het
Dmbt1	A	G	7: 130,660,015 (GRCm39)	H422R	unknown	Het
Dnah12	A	G	14: 26,590,871 (GRCm39)	D3325G	probably null	Het
Dnah17	T	C	11: 117,963,731 (GRCm39)	D2514G	probably damaging	Het
Fgf9	T	A	14: 58,310,680 (GRCm39)	H56Q	probably damaging	Het
Fgfr3	A	T	5: 33,892,248 (GRCm39)	Y689F	probably damaging	Het
Fhip2a	G	A	19: 57,369,710 (GRCm39)	V418I	probably benign	Het
Gar1	A	T	3: 129,624,269 (GRCm39)	D74E	probably damaging	Het
Helq	T	C	5: 100,934,927 (GRCm39)	K488E	possibly damaging	Het
Hmg20a	A	G	9: 56,381,823 (GRCm39)	H33R	possibly damaging	Het
Igsf10	T	C	3: 59,233,624 (GRCm39)	D1703G	probably damaging	Het
Jph3	A	T	8: 122,480,377 (GRCm39)	I352F	probably benign	Het
Kng1	T	C	16: 22,879,224 (GRCm39)	F96S	probably damaging	Het
Krtap5-2	C	A	7: 141,729,029 (GRCm39)	S217I	unknown	Het
Lamp3	T	C	16: 19,518,455 (GRCm39)	S261G	possibly damaging	Het
Macf1	A	G	4: 123,365,654 (GRCm39)	F3036L	probably benign	Het
Map4k4	G	A	1: 40,058,722 (GRCm39)	R972H	possibly damaging	Het
Mccc1	C	T	3: 36,030,903 (GRCm39)	D388N	probably benign	Het
Mcoln1	T	A	8: 3,557,436 (GRCm39)	Y147*	probably null	Het
Mei1	T	C	15: 81,997,129 (GRCm39)	S622P		Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Nav3	A	G	10: 109,605,034 (GRCm39)	L1013P	probably damaging	Het
Ndrg2	T	C	14: 52,146,071 (GRCm39)	N170S	probably damaging	Het
Ndufa12	G	A	10: 94,035,832 (GRCm39)	G40D	probably damaging	Het
Ogdhl	T	A	14: 32,059,523 (GRCm39)	V390E	probably damaging	Het
Or10ak12	A	C	4: 118,666,999 (GRCm39)	S21A	probably benign	Het
Or1e26	T	C	11: 73,479,686 (GRCm39)	R293G	probably damaging	Het
Or4d10	A	T	19: 12,051,567 (GRCm39)	I143K	possibly damaging	Het
Or4f6	T	A	2: 111,839,124 (GRCm39)	M136L	probably benign	Het
Or8g37	A	T	9: 39,731,801 (GRCm39)	I289F	possibly damaging	Het
Oxct2a	A	T	4: 123,216,687 (GRCm39)	N231K	probably damaging	Het
Pak6	C	T	2: 118,520,243 (GRCm39)	T78M	probably benign	Het
Pde4dip	T	C	3: 97,649,841 (GRCm39)	Y1006C	probably damaging	Het
Psg18	A	G	7: 18,084,880 (GRCm39)	I193T	probably benign	Het
Psmd2	C	A	16: 20,479,173 (GRCm39)	H677Q	probably benign	Het
Resf1	T	A	6: 149,229,766 (GRCm39)	C937*	probably null	Het
Scaf11	C	T	15: 96,316,195 (GRCm39)	R1123H	probably damaging	Het
Setx	A	T	2: 29,051,555 (GRCm39)	S2036C	probably damaging	Het
Skint6	A	G	4: 113,093,546 (GRCm39)	F199S	probably damaging	Het
Slc3a2	A	T	19: 8,686,594 (GRCm39)	S367R	probably damaging	Het
Spidr	T	C	16: 15,871,304 (GRCm39)	D222G	probably damaging	Het
Styxl1	T	C	5: 135,799,190 (GRCm39)	E8G	probably null	Het
Sycp2l	T	A	13: 41,295,256 (GRCm39)	F308I	probably damaging	Het
Syk	A	C	13: 52,778,808 (GRCm39)	K298T	probably benign	Het
Tcp11	T	A	17: 28,286,028 (GRCm39)	Q529L	possibly damaging	Het
Tgfbi	A	G	13: 56,762,100 (GRCm39)	Y61C	probably damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Top2a	A	C	11: 98,914,883 (GRCm39)	S4A	probably benign	Het
Ttc4	G	T	4: 106,528,919 (GRCm39)	H166N	probably benign	Het
Ube2o	C	A	11: 116,435,639 (GRCm39)	R383L	possibly damaging	Het
Umod	A	G	7: 119,076,517 (GRCm39)	V83A	possibly 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
R5689:Osgin1	UTSW	8	120,171,728 (GRCm39)	makesense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ATTGTGGGAGCAGGGCTATC -3'
(R):5'- AATGGGGTTCCTCTTGGGAC -3'

Sequencing Primer
(F):5'- CCTGGTATTCAACCAGCT -3'
(R):5'- GTCTATGACCAAGTCAGCACCTG -3'

Posted On

2022-10-06