Mutagenetix > Incidental Mutation

Incidental Mutation 'R7683:Oxsr1'

592881

Institutional Source

Beutler Lab

Gene Symbol

Oxsr1

Ensembl Gene

ENSMUSG00000036737

Gene Name

oxidative-stress responsive 1

Synonyms

2210022N24Rik, Osr1, 2810422B09Rik

MMRRC Submission

045749-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119067498-119151493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119070821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 489 (I489V)

Ref Sequence

ENSEMBL: ENSMUSP00000042155 (fasta)

Gene Model

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

AlphaFold

Q6P9R2

Predicted Effect

probably benign
Transcript: ENSMUST00000040853
AA Change: I489V

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: I489V

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,660,312 (GRCm39)	C305R	probably damaging	Het
Anpep	C	A	7: 79,488,946 (GRCm39)	V381L	probably damaging	Het
Ap5s1	T	C	2: 131,054,627 (GRCm39)	L146P	probably damaging	Het
Arhgef11	A	G	3: 87,629,690 (GRCm39)	I599V	probably damaging	Het
Arpc2	T	C	1: 74,302,973 (GRCm39)	Y250H	probably damaging	Het
Baz1b	T	A	5: 135,246,582 (GRCm39)	M677K	probably damaging	Het
Begain	C	T	12: 108,999,413 (GRCm39)	A453T	unknown	Het
C1ql4	T	C	15: 98,985,092 (GRCm39)	D173G	probably benign	Het
Card11	T	G	5: 140,881,781 (GRCm39)	N461T	probably benign	Het
Ccdc9	T	C	7: 16,018,287 (GRCm39)	D7G	probably damaging	Het
Ces2a	T	C	8: 105,463,744 (GRCm39)	V152A	probably benign	Het
Chl1	G	A	6: 103,668,613 (GRCm39)	A449T	possibly damaging	Het
Col11a1	G	T	3: 113,907,385 (GRCm39)	G638W	unknown	Het
Cse1l	A	T	2: 166,764,708 (GRCm39)	T171S	probably benign	Het
D2hgdh	T	A	1: 93,766,687 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,930,680 (GRCm39)	Y432H	possibly damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
F11	T	A	8: 45,702,545 (GRCm39)	Q251L	probably damaging	Het
Gtf2f1	T	A	17: 57,312,458 (GRCm39)	E195V	possibly damaging	Het
Hap1	A	T	11: 100,242,374 (GRCm39)	L376Q	probably damaging	Het
Hars2	T	A	18: 36,921,289 (GRCm39)	I234N	probably damaging	Het
Hcfc2	T	C	10: 82,535,063 (GRCm39)	V29A	probably benign	Het
Hp	C	T	8: 110,305,731 (GRCm39)		probably benign	Het
Hrh1	T	C	6: 114,456,748 (GRCm39)	S10P	probably benign	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm3a	A	G	6: 71,576,438 (GRCm39)	V792A	probably benign	Het
Kif13b	G	A	14: 64,994,956 (GRCm39)	V903I	probably benign	Het
Lars2	G	T	9: 123,206,895 (GRCm39)		probably null	Het
Med7	A	G	11: 46,331,687 (GRCm39)	D94G	possibly damaging	Het
Mier3	A	G	13: 111,841,846 (GRCm39)	T136A	probably benign	Het
Nin	T	C	12: 70,124,956 (GRCm39)	E122G		Het
Or5h18	G	T	16: 58,847,469 (GRCm39)	T267K	probably benign	Het
Or6k14	A	G	1: 173,927,042 (GRCm39)	Q6R	probably benign	Het
Pdcd6ip	A	T	9: 113,516,763 (GRCm39)	L216Q	probably damaging	Het
Ppp4r4	T	A	12: 103,553,364 (GRCm39)	C379*	probably null	Het
Pramel24	A	T	4: 143,453,284 (GRCm39)	K131*	probably null	Het
Ptpn13	T	A	5: 103,713,018 (GRCm39)	C1714S	probably benign	Het
Pum2	G	A	12: 8,778,922 (GRCm39)	R498Q	possibly damaging	Het
Sema3d	T	A	5: 12,623,823 (GRCm39)	Y577*	probably null	Het
Slc29a3	G	A	10: 60,552,145 (GRCm39)	P300S	not run	Het
Slc5a4b	A	G	10: 75,899,906 (GRCm39)	V444A	probably damaging	Het
Smad9	A	G	3: 54,696,685 (GRCm39)	E250G	probably damaging	Het
Srsf7	A	G	17: 80,514,703 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 129,523,683 (GRCm39)	Y239C	probably damaging	Het
Triml2	C	A	8: 43,638,325 (GRCm39)	Q98K	probably damaging	Het
Txndc11	A	T	16: 10,902,099 (GRCm39)	L705Q	probably damaging	Het
Vmn1r22	A	G	6: 57,877,404 (GRCm39)	M191T	probably damaging	Het
Vmn2r89	A	T	14: 51,692,651 (GRCm39)	K151N	probably benign	Het
Vwa5a	A	G	9: 38,646,125 (GRCm39)	I498V	probably damaging	Het
Zfp459	T	C	13: 67,556,615 (GRCm39)	H156R	probably damaging	Het
Zscan18	T	A	7: 12,503,532 (GRCm39)	K676*	probably null	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
IGL02806:Oxsr1	APN	9	119,070,260 (GRCm39)	missense	possibly damaging	0.55
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGGCTTGGGCAAAATGAAC -3'
(R):5'- AGCTTTGCTTTGGGAAATGAC -3'

Sequencing Primer
(F):5'- CGGCTGTCCTCAAACTCAG -3'
(R):5'- CTTTGGGAAATGACTGGCCC -3'

Posted On

2019-11-12