Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Osgin1'

48458

Institutional Source

Beutler Lab

Gene Symbol

Osgin1

Ensembl Gene

ENSMUSG00000074063

Gene Name

oxidative stress induced growth inhibitor 1

Synonyms

1700012B18Rik

MMRRC Submission

038713-MU

Accession Numbers

Essential gene?

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

Stock #

R0520 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120160874-120172996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120169247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 48 (H48R)

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 damaging
Transcript: ENSMUST00000098365
AA Change: H48R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126414

Predicted Effect

probably damaging
Transcript: ENSMUST00000131448
AA Change: H48R

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

SMART Domains

Protein: ENSMUSP00000120477
Gene: ENSMUSG00000074063
AA Change: H48R

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: H48R

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

SMART Domains

Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: H48R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212112
AA Change: H26R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.7912

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Dclre1c	A	G	2: 3,437,512 (GRCm39)	H115R	probably damaging	Het
Ddx20	T	C	3: 105,594,692 (GRCm39)	T18A	probably benign	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
H2-K2	A	T	17: 34,216,390 (GRCm39)	V272E	probably damaging	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Inpp5k	C	A	11: 75,530,356 (GRCm39)	Y265*	probably null	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
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
R9689:Osgin1	UTSW	8	120,172,247 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- ATGGCATCTGTCGCAGAGTAAGGG -3'
(R):5'- CTGAGAAGCACGGGTCTAATGTGAG -3'

Sequencing Primer
(F):5'- GTAAGGGCTTAGTGAACGATTC -3'
(R):5'- ACATGGCATCAGTGGGTC -3'

Posted On

2013-06-12