Incidental Mutation 'R3149:Atox1'
Institutional Source Beutler Lab
Gene Symbol Atox1
Ensembl Gene ENSMUSG00000018585
Gene Nameantioxidant 1 copper chaperone
MMRRC Submission 040601-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R3149 (G1)
Quality Score225
Status Not validated
Chromosomal Location55446641-55461239 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55450553 bp
Amino Acid Change Leucine to Proline at position 52 (L52P)
Ref Sequence ENSEMBL: ENSMUSP00000104485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108857]
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

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
1700061G19Rik G A 17: 56,876,348 A30T probably benign Het
Cel T C 2: 28,556,131 D576G probably benign Het
Csf2ra C A 19: 61,227,320 A16S possibly damaging Het
Cyp4f18 T C 8: 71,993,200 D317G possibly damaging Het
Dus1l T C 11: 120,793,104 T173A possibly damaging Het
Dzip1 T C 14: 118,911,368 T300A probably benign Het
Fam208b G A 13: 3,574,359 P1182S probably damaging Het
Ggta1 A T 2: 35,402,623 I224N probably damaging Het
Gm11492 T C 11: 87,567,244 V148A possibly damaging Het
Gm5150 A G 3: 16,006,315 L3P probably damaging Het
Gm5592 A G 7: 41,288,380 E362G probably benign Het
Gm7137 T C 10: 77,788,005 probably benign Het
Gpatch2l A G 12: 86,244,315 T91A possibly damaging Het
Hoxa13 G T 6: 52,260,304 probably benign Het
Ift46 A G 9: 44,783,748 D65G probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Mapk11 T C 15: 89,145,450 probably null Het
Mettl25 T C 10: 105,826,353 D252G probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Olfr479 C T 7: 108,055,782 R267C probably benign Het
Pecam1 A G 11: 106,684,281 V601A possibly damaging Het
Prkx A T X: 77,771,275 F260I probably damaging Het
Rassf9 A T 10: 102,544,826 D21V possibly damaging Het
Rmnd5a T A 6: 71,429,101 I68L probably benign Het
Rock2 T C 12: 16,965,091 S762P probably damaging Het
Srgap2 T C 1: 131,292,589 T216A probably benign Het
Vmn1r86 T A 7: 13,102,431 K123* probably null Het
Vmn2r68 A C 7: 85,237,667 V13G probably benign Het
Vps13d G C 4: 145,126,577 N2322K possibly damaging Het
Xpo5 A G 17: 46,242,247 probably null Het
Zswim9 T C 7: 13,277,270 T51A possibly damaging Het
Other mutations in Atox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2040:Atox1 UTSW 11 55450517 missense probably benign 0.07
R2061:Atox1 UTSW 11 55454898 missense possibly damaging 0.82
R3176:Atox1 UTSW 11 55450553 missense possibly damaging 0.69
R3276:Atox1 UTSW 11 55450553 missense possibly damaging 0.69
R7080:Atox1 UTSW 11 55450539 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-05