Incidental Mutation 'R5349:Srxn1'
ID 422759
Institutional Source Beutler Lab
Gene Symbol Srxn1
Ensembl Gene ENSMUSG00000032802
Gene Name sulfiredoxin 1 homolog (S. cerevisiae)
Synonyms Srx1, Srx, 1700127B04Rik, Npn3
MMRRC Submission 042928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5349 (G1)
Quality Score 81
Status Not validated
Chromosome 2
Chromosomal Location 151947436-151953296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 151947799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 66 (V66M)
Ref Sequence ENSEMBL: ENSMUSP00000046196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041500]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041500
AA Change: V66M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046196
Gene: ENSMUSG00000032802
AA Change: V66M

DomainStartEndE-ValueType
low complexity region 14 49 N/A INTRINSIC
Pfam:ParBc 60 151 1.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137751
Meta Mutation Damage Score 0.2396 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to LPS-induced shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,917,986 (GRCm39) E327G possibly damaging Het
Cd209d T G 8: 3,928,320 (GRCm39) M22L probably benign Het
Chrna2 T C 14: 66,380,956 (GRCm39) V75A probably damaging Het
Cnst A G 1: 179,450,462 (GRCm39) E642G possibly damaging Het
Diaph1 A G 18: 38,024,125 (GRCm39) V571A unknown Het
Dip2c C A 13: 9,672,689 (GRCm39) H1032N probably damaging Het
Eif4a3l1 A T 6: 136,306,694 (GRCm39) D385V probably damaging Het
Fbxl3 T C 14: 103,333,012 (GRCm39) probably benign Het
Glb1 T C 9: 114,263,529 (GRCm39) probably null Het
Gm8220 T C 14: 44,525,634 (GRCm39) I101T probably benign Het
Grin2b A G 6: 136,021,281 (GRCm39) C7R possibly damaging Het
Myo15a T C 11: 60,384,409 (GRCm39) I516T probably damaging Het
Nr1i3 A G 1: 171,042,641 (GRCm39) D89G possibly damaging Het
Ogfod1 T G 8: 94,781,876 (GRCm39) probably benign Het
Or4k2 G T 14: 50,424,230 (GRCm39) S148* probably null Het
Pard3 G T 8: 128,142,224 (GRCm39) D930Y probably damaging Het
Pde7b C T 10: 20,494,932 (GRCm39) C9Y probably damaging Het
Pilra T A 5: 137,829,488 (GRCm39) D192V probably damaging Het
Ptprj A G 2: 90,301,605 (GRCm39) S176P probably benign Het
Slc4a2 T C 5: 24,640,633 (GRCm39) V685A possibly damaging Het
Stox2 A G 8: 47,740,951 (GRCm39) F44L possibly damaging Het
Tlr11 T C 14: 50,598,337 (GRCm39) F108L probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A C 2: 76,638,450 (GRCm39) I13943M probably damaging Het
Wdfy4 T C 14: 32,710,856 (GRCm39) D2577G probably damaging Het
Zyg11a A T 4: 108,040,929 (GRCm39) F675I probably damaging Het
Other mutations in Srxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5451:Srxn1 UTSW 2 151,947,799 (GRCm39) missense probably damaging 1.00
R5452:Srxn1 UTSW 2 151,947,799 (GRCm39) missense probably damaging 1.00
R7475:Srxn1 UTSW 2 151,947,573 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACAGGTAGGATCACAGCGTG -3'
(R):5'- TGGCCAAATCCAAGTGAGG -3'

Sequencing Primer
(F):5'- TACAGCCCGGCCTGGTAAAG -3'
(R):5'- TCAGCCAGTCCGTCAAGGTC -3'
Posted On 2016-08-04