Incidental Mutation 'R5975:Glrx5'
ID 471713
Institutional Source Beutler Lab
Gene Symbol Glrx5
Ensembl Gene ENSMUSG00000021102
Gene Name glutaredoxin 5
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R5975 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 105032688-105042906 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105040323 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 111 (N111S)
Ref Sequence ENSEMBL: ENSMUSP00000021522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021522] [ENSMUST00000223244]
AlphaFold Q80Y14
Predicted Effect possibly damaging
Transcript: ENSMUST00000021522
AA Change: N111S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021522
Gene: ENSMUSG00000021102
AA Change: N111S

low complexity region 2 32 N/A INTRINSIC
Pfam:Glutaredoxin 50 115 4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220494
Predicted Effect probably benign
Transcript: ENSMUST00000223244
Meta Mutation Damage Score 0.4091 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (80/82)
MGI Phenotype FUNCTION: This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in the human gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,969,221 (GRCm38) T2233I possibly damaging Het
9430038I01Rik T C 7: 137,387,292 (GRCm38) probably benign Het
Abhd14a A T 9: 106,443,951 (GRCm38) probably null Het
Actn2 T C 13: 12,340,497 (GRCm38) N2D probably benign Het
Adcy9 T C 16: 4,311,567 (GRCm38) E722G probably damaging Het
Alox12 C A 11: 70,242,783 (GRCm38) V572L possibly damaging Het
Ankrd11 T C 8: 122,889,749 (GRCm38) I2434V possibly damaging Het
Anks1 T A 17: 27,991,447 (GRCm38) probably null Het
Bpifa3 T A 2: 154,136,321 (GRCm38) S148T probably damaging Het
Bptf C T 11: 107,035,864 (GRCm38) probably benign Het
Cabin1 A T 10: 75,657,839 (GRCm38) L1655H probably damaging Het
Ccdc13 G T 9: 121,827,235 (GRCm38) Q171K probably benign Het
Ccdc33 T A 9: 58,117,478 (GRCm38) Q155L possibly damaging Het
Cckbr G A 7: 105,470,619 (GRCm38) G280E probably benign Het
Cdk11b G A 4: 155,648,240 (GRCm38) probably benign Het
Celsr1 G T 15: 85,919,038 (GRCm38) probably null Het
Cenpj A T 14: 56,564,066 (GRCm38) I150N possibly damaging Het
Cep135 C A 5: 76,640,890 (GRCm38) A1110E possibly damaging Het
Chit1 C A 1: 134,146,626 (GRCm38) H224N probably damaging Het
Cul5 T C 9: 53,622,793 (GRCm38) R680G probably damaging Het
Dhx58 C A 11: 100,702,209 (GRCm38) R224L probably damaging Het
Dlx1 C A 2: 71,531,009 (GRCm38) N122K probably damaging Het
Dnah5 A C 15: 28,234,282 (GRCm38) D279A probably damaging Het
Enpp3 A G 10: 24,774,842 (GRCm38) W799R probably benign Het
Ercc5 A G 1: 44,173,406 (GRCm38) T675A probably benign Het
Farsa T A 8: 84,864,432 (GRCm38) probably null Het
Fbxw15 A T 9: 109,555,252 (GRCm38) V397D probably damaging Het
Fcrl5 G A 3: 87,442,103 (GRCm38) V62I probably benign Het
Gart A G 16: 91,624,336 (GRCm38) S815P probably damaging Het
Gm10845 A G 14: 79,863,174 (GRCm38) noncoding transcript Het
Gm11639 A G 11: 104,687,549 (GRCm38) probably benign Het
Gm8882 A G 6: 132,362,073 (GRCm38) S61P unknown Het
Gm9925 T A 18: 74,065,516 (GRCm38) probably benign Het
Gsdme T C 6: 50,227,359 (GRCm38) N206S probably benign Het
Helz2 T C 2: 181,231,050 (GRCm38) S2459G probably benign Het
Hnrnpul1 A G 7: 25,754,359 (GRCm38) S93P possibly damaging Het
Ints2 A T 11: 86,226,748 (GRCm38) I716N possibly damaging Het
Lmnb2 G A 10: 80,905,128 (GRCm38) Q248* probably null Het
Map3k7cl A G 16: 87,570,321 (GRCm38) I32V probably benign Het
Mfsd4b4 A T 10: 39,892,470 (GRCm38) I255N probably benign Het
Myh6 A G 14: 54,950,508 (GRCm38) I1163T probably benign Het
Nphs1 A T 7: 30,466,115 (GRCm38) T636S possibly damaging Het
Ntsr1 T A 2: 180,500,788 (GRCm38) L124Q probably damaging Het
Obscn C T 11: 59,122,619 (GRCm38) probably null Het
P4ha2 G A 11: 54,126,412 (GRCm38) probably null Het
Pcdha9 T A 18: 36,999,111 (GRCm38) V411D probably benign Het
Pkhd1l1 A T 15: 44,525,988 (GRCm38) I1380F probably damaging Het
Plekha1 T C 7: 130,892,253 (GRCm38) V106A probably benign Het
Plekhm1 A T 11: 103,376,691 (GRCm38) V818E possibly damaging Het
Pprc1 T G 19: 46,065,370 (GRCm38) probably benign Het
Prmt9 T C 8: 77,561,018 (GRCm38) probably benign Het
Rab26 T C 17: 24,530,399 (GRCm38) N193D possibly damaging Het
Rnf111 A G 9: 70,429,580 (GRCm38) S942P probably damaging Het
Scgb2b18 T C 7: 33,173,225 (GRCm38) T52A probably damaging Het
Syt3 C T 7: 44,392,763 (GRCm38) Q349* probably null Het
Tas2r107 T C 6: 131,659,780 (GRCm38) N102S probably benign Het
Tas2r126 T A 6: 42,435,000 (GRCm38) Y156N possibly damaging Het
Tcaf2 A T 6: 42,642,778 (GRCm38) I105N probably benign Het
Tet1 A C 10: 62,879,773 (GRCm38) M81R probably benign Het
Togaram2 T C 17: 71,729,205 (GRCm38) Y897H probably damaging Het
Trerf1 A T 17: 47,314,271 (GRCm38) noncoding transcript Het
Ttn G A 2: 76,761,235 (GRCm38) T12703I probably damaging Het
Unc79 A G 12: 103,125,626 (GRCm38) K1735E possibly damaging Het
Usp54 G A 14: 20,583,351 (GRCm38) T372I possibly damaging Het
Wdr24 T C 17: 25,827,128 (GRCm38) S476P probably benign Het
Wdr78 G A 4: 103,049,589 (GRCm38) P676S probably benign Het
Zbtb1 T C 12: 76,386,275 (GRCm38) I345T possibly damaging Het
Zcrb1 T A 15: 93,395,615 (GRCm38) I29L probably benign Het
Zfp341 T A 2: 154,630,441 (GRCm38) C315S probably damaging Het
Zfp623 C A 15: 75,948,163 (GRCm38) R323S probably benign Het
Zfp831 T A 2: 174,644,092 (GRCm38) Y187N possibly damaging Het
Other mutations in Glrx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1570:Glrx5 UTSW 12 105,032,868 (GRCm38) missense possibly damaging 0.94
R3811:Glrx5 UTSW 12 105,032,888 (GRCm38) missense probably damaging 1.00
X0065:Glrx5 UTSW 12 105,040,278 (GRCm38) missense probably damaging 1.00
X0066:Glrx5 UTSW 12 105,032,959 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-03-31