Incidental Mutation 'R3149:Atox1'
ID 264361
Institutional Source Beutler Lab
Gene Symbol Atox1
Ensembl Gene ENSMUSG00000018585
Gene Name antioxidant 1 copper chaperone
Synonyms ATX1
MMRRC Submission 040601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R3149 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 55337463-55352034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55341379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 52 (L52P)
Ref Sequence ENSEMBL: ENSMUSP00000104485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108857]
AlphaFold O08997
Predicted Effect possibly damaging
Transcript: ENSMUST00000108857
AA Change: L52P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104485
Gene: ENSMUSG00000018585
AA Change: L52P

DomainStartEndE-ValueType
Pfam:HMA 5 61 6.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138412
Meta Mutation Damage Score 0.9204 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation have impaired intracellular copper trafficking and exhibit high postnatal mortality, retarded growth, hypoactivity, loose skin, hypopigmentation, and seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G A 17: 57,183,348 (GRCm39) A30T probably benign Het
Cel T C 2: 28,446,143 (GRCm39) D576G probably benign Het
Csf2ra C A 19: 61,215,758 (GRCm39) A16S possibly damaging Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dus1l T C 11: 120,683,930 (GRCm39) T173A possibly damaging Het
Dzip1 T C 14: 119,148,780 (GRCm39) T300A probably benign Het
Ggta1 A T 2: 35,292,635 (GRCm39) I224N probably damaging Het
Gm5150 A G 3: 16,060,479 (GRCm39) L3P probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7137 T C 10: 77,623,839 (GRCm39) probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hoxa13 G T 6: 52,237,284 (GRCm39) probably benign Het
Ift46 A G 9: 44,695,045 (GRCm39) D65G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mapk11 T C 15: 89,029,653 (GRCm39) probably null Het
Mettl25 T C 10: 105,662,214 (GRCm39) D252G probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Pecam1 A G 11: 106,575,107 (GRCm39) V601A possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rassf9 A T 10: 102,380,687 (GRCm39) D21V possibly damaging Het
Rmnd5a T A 6: 71,406,085 (GRCm39) I68L probably benign Het
Rock2 T C 12: 17,015,092 (GRCm39) S762P probably damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Srgap2 T C 1: 131,220,327 (GRCm39) T216A probably benign Het
Tasor2 G A 13: 3,624,359 (GRCm39) P1182S probably damaging Het
Vmn1r86 T A 7: 12,836,358 (GRCm39) K123* probably null Het
Vmn2r68 A C 7: 84,886,875 (GRCm39) V13G probably benign Het
Vps13d G C 4: 144,853,147 (GRCm39) N2322K possibly damaging Het
Xpo5 A G 17: 46,553,173 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Atox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2040:Atox1 UTSW 11 55,341,343 (GRCm39) missense probably benign 0.07
R2061:Atox1 UTSW 11 55,345,724 (GRCm39) missense possibly damaging 0.82
R3176:Atox1 UTSW 11 55,341,379 (GRCm39) missense possibly damaging 0.69
R3276:Atox1 UTSW 11 55,341,379 (GRCm39) missense possibly damaging 0.69
R7080:Atox1 UTSW 11 55,341,365 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTCAAGCCTTTCAGATGAGGG -3'
(R):5'- CACATAGAGAAGAGCCTGCAGC -3'

Sequencing Primer
(F):5'- TTTCAGATGAGGGACCCCAG -3'
(R):5'- AAAGAGCTCGCCGGGTGTG -3'
Posted On 2015-02-05