Incidental Mutation 'R3811:Glrx5'
ID 275205
Institutional Source Beutler Lab
Gene Symbol Glrx5
Ensembl Gene ENSMUSG00000021102
Gene Name glutaredoxin 5
Synonyms 2310004O13Rik, 2900070E19Rik
MMRRC Submission 040767-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R3811 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104998877-105007170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 104999147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 63 (C63W)
Ref Sequence ENSEMBL: ENSMUSP00000152267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021522] [ENSMUST00000223244]
AlphaFold Q80Y14
Predicted Effect probably damaging
Transcript: ENSMUST00000021522
AA Change: C63W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021522
Gene: ENSMUSG00000021102
AA Change: C63W

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
Pfam:Glutaredoxin 50 115 4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222672
Predicted Effect probably damaging
Transcript: ENSMUST00000223244
AA Change: C63W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222812
Meta Mutation Damage Score 0.9387 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (36/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Arhgap28 G A 17: 68,203,088 (GRCm39) P122S probably benign Het
Arid2 T C 15: 96,186,967 (GRCm39) V73A probably benign Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Cacybp T C 1: 160,031,222 (GRCm39) D202G probably benign Het
Chsy3 C G 18: 59,309,242 (GRCm39) P165R probably benign Het
Creb3 C T 4: 43,565,501 (GRCm39) Q227* probably null Het
Crnkl1 C A 2: 145,773,226 (GRCm39) R140L probably damaging Het
Cyth4 A G 15: 78,488,849 (GRCm39) E39G probably damaging Het
Dnah6 T C 6: 73,168,481 (GRCm39) T481A probably benign Het
Dock4 T A 12: 40,829,123 (GRCm39) I1003N possibly damaging Het
Galntl5 T C 5: 25,391,178 (GRCm39) F26L probably benign Het
Gm9602 T A 14: 15,932,645 (GRCm39) I28N probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Hmcn1 A G 1: 150,525,328 (GRCm39) probably null Het
Ighv1-24 G T 12: 114,736,685 (GRCm39) L72I probably benign Het
Ilvbl G A 10: 78,414,869 (GRCm39) C244Y probably benign Het
Kat7 A G 11: 95,182,441 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lamc1 A T 1: 153,138,454 (GRCm39) probably null Het
Mall T A 2: 127,550,774 (GRCm39) I129F probably damaging Het
Mdn1 A T 4: 32,693,506 (GRCm39) K1044* probably null Het
Med23 A T 10: 24,768,490 (GRCm39) R77* probably null Het
Med23 G A 10: 24,768,491 (GRCm39) probably null Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Or8k28 A T 2: 86,285,691 (GRCm39) V308E probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Sco2 T C 15: 89,257,882 (GRCm39) probably benign Het
Slc32a1 G T 2: 158,456,656 (GRCm39) C437F possibly damaging Het
Spem2 T C 11: 69,707,990 (GRCm39) E325G possibly damaging Het
Steap4 A G 5: 8,027,017 (GRCm39) T327A probably benign Het
Tsc2 T C 17: 24,848,011 (GRCm39) D70G probably benign Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E probably benign Het
Other mutations in Glrx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1570:Glrx5 UTSW 12 104,999,127 (GRCm39) missense possibly damaging 0.94
R5975:Glrx5 UTSW 12 105,006,582 (GRCm39) missense possibly damaging 0.57
X0065:Glrx5 UTSW 12 105,006,537 (GRCm39) missense probably damaging 1.00
X0066:Glrx5 UTSW 12 104,999,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCCCAGAGCTTGTCCAATG -3'
(R):5'- TGGCTACACAACCAGGGAAG -3'

Sequencing Primer
(F):5'- AGAGCTTGTCCAATGAGAGCCTC -3'
(R):5'- AAGGCCCTTGCTCCTCG -3'
Posted On 2015-04-02