Incidental Mutation 'IGL02597:Atp7a'
ID299910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp7a
Ensembl Gene ENSMUSG00000033792
Gene NameATPase, Cu++ transporting, alpha polypeptide
SynonymsMNK, br, Menkes protein
Accession Numbers

Genbank: NM_009726; MGI: 99400

Is this an essential gene? Probably essential (E-score: 0.851) question?
Stock #IGL02597
Quality Score
Status
ChromosomeX
Chromosomal Location106027276-106124926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106069888 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 34 (N34I)
Ref Sequence ENSEMBL: ENSMUSP00000109186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055941] [ENSMUST00000113557]
Predicted Effect probably benign
Transcript: ENSMUST00000055941
AA Change: N34I

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: N34I

DomainStartEndE-ValueType
Pfam:HMA 11 72 1.8e-16 PFAM
Pfam:HMA 174 235 3.2e-14 PFAM
Pfam:HMA 280 342 1.5e-15 PFAM
low complexity region 348 362 N/A INTRINSIC
Pfam:HMA 380 441 1.2e-17 PFAM
Pfam:HMA 484 544 6.7e-14 PFAM
Pfam:HMA 559 620 7.3e-15 PFAM
transmembrane domain 644 666 N/A INTRINSIC
low complexity region 698 713 N/A INTRINSIC
Pfam:E1-E2_ATPase 777 1025 1.4e-62 PFAM
Pfam:Hydrolase 1030 1305 1.4e-66 PFAM
Pfam:HAD 1033 1302 3.3e-12 PFAM
Pfam:Hydrolase_3 1273 1337 6.2e-7 PFAM
transmembrane domain 1351 1373 N/A INTRINSIC
transmembrane domain 1377 1399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113557
AA Change: N34I

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: N34I

DomainStartEndE-ValueType
Pfam:HMA 11 72 2.7e-14 PFAM
Pfam:HMA 174 235 2e-13 PFAM
Pfam:HMA 280 344 2.4e-14 PFAM
low complexity region 348 362 N/A INTRINSIC
Pfam:HMA 380 441 5.1e-16 PFAM
Pfam:HMA 482 543 1.9e-12 PFAM
Pfam:HMA 558 619 1.8e-14 PFAM
transmembrane domain 643 665 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Pfam:E1-E2_ATPase 777 1025 2.2e-51 PFAM
Pfam:Hydrolase 1029 1304 3.9e-76 PFAM
Pfam:HAD 1032 1301 4.5e-14 PFAM
Pfam:Hydrolase_3 1272 1336 2.1e-6 PFAM
transmembrane domain 1350 1372 N/A INTRINSIC
transmembrane domain 1376 1398 N/A INTRINSIC
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 encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mutations in this gene affect copper metabolism and, depending on the allele, result in abnormal pigmentation, vibrissae, hair, and skeleton. Behavior may be abnormal and defects of collagen and elastin fibers are reported. Some alleles are hemizygous lethal. [provided by MGI curators]
Allele List at MGI
All alleles(88) : Targeted, other(2) Gene trapped(48) Spontaneous(23) Chemically induced(9) Radiation induced(8)
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Atp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Atp7a APN X 106109830 missense probably damaging 0.97
IGL02023:Atp7a APN X 106094982 missense probably damaging 0.99
IGL03285:Atp7a APN X 106109775 missense probably benign
brown UTSW X 106088491 missense probably damaging 1.00
Golden UTSW X unclassified
Silver UTSW X unclassified
Tigrou UTSW X 106088407 missense probably benign 0.04
Tigrou-like UTSW X 106105250 missense probably damaging 1.00
Ups UTSW X 106088491 missense probably damaging 1.00
R0240:Atp7a UTSW X 106109841 missense probably damaging 1.00
R0240:Atp7a UTSW X 106109841 missense probably damaging 1.00
R3434:Atp7a UTSW X 106094857 missense probably benign 0.00
R3435:Atp7a UTSW X 106094857 missense probably benign 0.00
R3756:Atp7a UTSW X 106101843 splice site probably null
R4911:Atp7a UTSW X 106120374 missense probably damaging 0.99
R5072:Atp7a UTSW X 106109768 missense probably benign
R5073:Atp7a UTSW X 106109768 missense probably benign
R5074:Atp7a UTSW X 106109768 missense probably benign
Posted On2015-04-16