Incidental Mutation 'IGL01092:Grxcr1'
ID51086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grxcr1
Ensembl Gene ENSMUSG00000068082
Gene Nameglutaredoxin, cysteine rich 1
Synonymstde, pi
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL01092
Quality Score
Status
Chromosome5
Chromosomal Location68031835-68166398 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 68110562 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094715]
Predicted Effect probably benign
Transcript: ENSMUST00000094715
SMART Domains Protein: ENSMUSP00000092305
Gene: ENSMUSG00000068082

DomainStartEndE-ValueType
Pfam:Glutaredoxin 145 214 9.7e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Crnkl1 T C 2: 145,919,948 K563R probably benign Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Edn1 A G 13: 42,303,671 D60G probably damaging Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Glmn A T 5: 107,578,512 probably null Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr1338 T A 4: 118,753,762 I259F possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Sdhb T G 4: 140,977,480 C251G probably damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Grxcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Grxcr1 APN 5 68032197 missense possibly damaging 0.94
IGL00943:Grxcr1 APN 5 68032295 splice site probably benign
IGL02145:Grxcr1 APN 5 68110478 missense probably damaging 1.00
R2089:Grxcr1 UTSW 5 68110412 missense probably damaging 1.00
R2091:Grxcr1 UTSW 5 68110412 missense probably damaging 1.00
R2091:Grxcr1 UTSW 5 68110412 missense probably damaging 1.00
R3018:Grxcr1 UTSW 5 68110517 missense probably damaging 1.00
R5388:Grxcr1 UTSW 5 68166195 missense probably damaging 1.00
R6103:Grxcr1 UTSW 5 68166204 missense possibly damaging 0.94
R6737:Grxcr1 UTSW 5 68110492 missense probably damaging 1.00
R6855:Grxcr1 UTSW 5 68032094 missense possibly damaging 0.95
X0025:Grxcr1 UTSW 5 68031894 missense possibly damaging 0.96
Posted On2013-06-21