Incidental Mutation 'R9394:Oxsr1'
ID 710747
Institutional Source Beutler Lab
Gene Symbol Oxsr1
Ensembl Gene ENSMUSG00000036737
Gene Name oxidative-stress responsive 1
Synonyms 2210022N24Rik, Osr1, 2810422B09Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9394 (G1)
Quality Score 99.0078
Status Not validated
Chromosome 9
Chromosomal Location 119067498-119151493 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 119151134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 3 (E3*)
Ref Sequence ENSEMBL: ENSMUSP00000042155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040853] [ENSMUST00000128880] [ENSMUST00000170400]
AlphaFold Q6P9R2
Predicted Effect probably null
Transcript: ENSMUST00000040853
AA Change: E3*
SMART Domains Protein: ENSMUSP00000042155
Gene: ENSMUSG00000036737
AA Change: E3*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000128880
AA Change: E3*
SMART Domains Protein: ENSMUSP00000122692
Gene: ENSMUSG00000036737
AA Change: E3*

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 100 6.3e-13 PFAM
Pfam:Pkinase 17 111 1.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170400
SMART Domains Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

DomainStartEndE-ValueType
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: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,135,225 (GRCm39) D78G Het
Adgrv1 A G 13: 81,624,767 (GRCm39) V3734A possibly damaging Het
Alpk1 T A 3: 127,466,187 (GRCm39) E1106D probably damaging Het
Apc2 A G 10: 80,145,006 (GRCm39) Y639C probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arfgef2 G A 2: 166,676,469 (GRCm39) V119I probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Cfap52 A G 11: 67,815,921 (GRCm39) *621R probably null Het
Dis3l T C 9: 64,225,017 (GRCm39) I427V probably benign Het
Dscaml1 G A 9: 45,661,354 (GRCm39) V1751I possibly damaging Het
Eif3c A T 7: 126,156,550 (GRCm39) F432L probably benign Het
Iars1 A G 13: 49,883,536 (GRCm39) N1110S probably benign Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Igfbpl1 A T 4: 45,826,792 (GRCm39) M1K probably null Het
Igkv3-1 T A 6: 70,680,953 (GRCm39) Y51N probably benign Het
Kcnq2 A T 2: 180,724,217 (GRCm39) I600K probably benign Het
Madd G A 2: 91,000,199 (GRCm39) T569M probably benign Het
Mapk7 A T 11: 61,381,858 (GRCm39) H351Q probably damaging Het
Met A C 6: 17,513,395 (GRCm39) Y415S probably damaging Het
Mmd2 A T 5: 142,555,239 (GRCm39) V151D probably damaging Het
Nacad T C 11: 6,549,390 (GRCm39) D1267G probably damaging Het
Or10g1 A G 14: 52,647,570 (GRCm39) V253A probably damaging Het
Or2l13 A C 16: 19,306,421 (GRCm39) T278P possibly damaging Het
Or2m13 A G 16: 19,226,019 (GRCm39) V249A probably benign Het
Or5w12 T C 2: 87,502,094 (GRCm39) I206V probably benign Het
Osbpl8 C T 10: 111,127,375 (GRCm39) R820* probably null Het
Plekhg3 A G 12: 76,623,862 (GRCm39) D1035G probably damaging Het
Prune2 C T 19: 16,981,053 (GRCm39) T70I probably damaging Het
Ranbp2 T C 10: 58,291,698 (GRCm39) L235S probably damaging Het
Rasal1 A C 5: 120,816,746 (GRCm39) S761R probably benign Het
Rigi T C 4: 40,213,831 (GRCm39) N609S probably damaging Het
Rims1 T C 1: 22,511,856 (GRCm39) S566G probably damaging Het
Rnf123 T C 9: 107,942,905 (GRCm39) H611R probably damaging Het
Rpl35rt T C 1: 156,193,793 (GRCm39) V49A probably benign Het
Scn5a T A 9: 119,324,682 (GRCm39) N1382I probably damaging Het
Sgcb T C 5: 73,801,653 (GRCm39) I71V probably benign Het
Slc6a20a C A 9: 123,507,805 (GRCm39) V23L probably damaging Het
Slc7a1 A G 5: 148,270,712 (GRCm39) W585R probably damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tom1l2 T C 11: 60,132,715 (GRCm39) T403A probably benign Het
Trpm1 G T 7: 63,918,480 (GRCm39) A1491S probably benign Het
Ttn A C 2: 76,707,058 (GRCm39) D9044E unknown Het
Ube3a A T 7: 58,921,960 (GRCm39) K111* probably null Het
Wee2 A G 6: 40,433,878 (GRCm39) H264R probably damaging Het
Zdhhc23 T A 16: 43,791,826 (GRCm39) I316F probably damaging Het
Zfc3h1 A G 10: 115,254,600 (GRCm39) E1398G probably damaging Het
Zfp612 C A 8: 110,810,993 (GRCm39) P57T probably damaging Het
Other mutations in Oxsr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9647:Oxsr1 UTSW 9 119,083,932 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCATCTGTCTCAGGTACG -3'
(R):5'- AAAGTTTGGCCCGTGCTTG -3'

Sequencing Primer
(F):5'- GGTACGCTTCTCCCTCCGAAG -3'
(R):5'- AAGCTTGTTTCGCGGTGCC -3'
Posted On 2022-04-18