Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Oxsr1'

360411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oxsr1

Ensembl Gene

ENSMUSG00000036737

Gene Name

oxidative-stress responsive 1

Synonyms

2210022N24Rik, Osr1, 2810422B09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

119067498-119151493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119070260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 511 (D511G)

Ref Sequence

ENSEMBL: ENSMUSP00000042155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040853] [ENSMUST00000128880] [ENSMUST00000143728] [ENSMUST00000170400]

AlphaFold

Q6P9R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040853
AA Change: D511G

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: D511G

Domain	Start	End	E-Value	Type
S_TKc	17	291	1.45e-84	SMART
low complexity region	332	350	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC
Pfam:OSR1_C	434	465	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128880

SMART Domains

Protein: ENSMUSP00000122692
Gene: ENSMUSG00000036737

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	100	6.3e-13	PFAM
Pfam:Pkinase	17	111	1.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136902

Predicted Effect

probably benign
Transcript: ENSMUST00000143728

SMART Domains

Protein: ENSMUSP00000117327
Gene: ENSMUSG00000036737

Domain	Start	End	E-Value	Type
PDB:2VWI\|D	1	32	2e-14	PDB
SCOP:d1f3mc_	1	33	1e-7	SMART
low complexity region	61	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Duox2	T	C	2: 122,115,147 (GRCm39)	H1110R	probably damaging	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hnrnpab	A	G	11: 51,496,305 (GRCm39)	S126P	probably benign	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lhx4	G	A	1: 155,577,975 (GRCm39)	P389L	probably benign	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nek1	G	A	8: 61,497,120 (GRCm39)	M389I	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Pramel14	T	A	4: 143,719,501 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	probably benign	Het

Other mutations in Oxsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Oxsr1	APN	9	119,088,277 (GRCm39)	missense	probably damaging	1.00
IGL01380:Oxsr1	APN	9	119,089,167 (GRCm39)	intron	probably benign
IGL02542:Oxsr1	APN	9	119,071,801 (GRCm39)	missense	possibly damaging	0.67
R0629:Oxsr1	UTSW	9	119,070,850 (GRCm39)	intron	probably benign
R2048:Oxsr1	UTSW	9	119,076,140 (GRCm39)	missense	probably benign
R2094:Oxsr1	UTSW	9	119,123,560 (GRCm39)	missense	probably benign	0.22
R2159:Oxsr1	UTSW	9	119,133,880 (GRCm39)	missense	possibly damaging	0.52
R2165:Oxsr1	UTSW	9	119,123,498 (GRCm39)	missense	probably damaging	1.00
R3905:Oxsr1	UTSW	9	119,076,178 (GRCm39)	missense	probably benign
R6017:Oxsr1	UTSW	9	119,093,843 (GRCm39)	missense	probably benign	0.00
R6286:Oxsr1	UTSW	9	119,093,948 (GRCm39)	missense	probably damaging	0.99
R6899:Oxsr1	UTSW	9	119,076,188 (GRCm39)	missense	probably benign	0.00
R7091:Oxsr1	UTSW	9	119,113,727 (GRCm39)	missense	probably benign	0.03
R7683:Oxsr1	UTSW	9	119,070,821 (GRCm39)	missense	probably benign	0.30
R7715:Oxsr1	UTSW	9	119,071,822 (GRCm39)	missense	probably damaging	1.00
R9394:Oxsr1	UTSW	9	119,151,134 (GRCm39)	nonsense	probably null
R9647:Oxsr1	UTSW	9	119,083,932 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18