Incidental Mutation 'IGL03285:Atp7a'
ID415693
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? Possibly non essential (E-score: 0.415) question?
Stock #IGL03285
Quality Score
Status
ChromosomeX
Chromosomal Location106027276-106124926 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 106109775 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1095 (E1095D)
Ref Sequence ENSEMBL: ENSMUSP00000058840 (fasta)
Predicted Effect probably benign
Transcript: ENSMUST00000055941
AA Change: E1095D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: E1095D

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: E1094D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: E1094D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134363
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,177 L192P probably damaging Het
4931406P16Rik T C 7: 34,284,991 H69R possibly damaging Het
Ank2 C A 3: 126,955,870 E1374D probably null Het
Carf A G 1: 60,146,154 T453A probably damaging Het
Catsperg1 T C 7: 29,198,172 N229S possibly damaging Het
Ctdspl2 T C 2: 121,986,999 Y176H probably damaging Het
Dnah7b A T 1: 46,182,375 N1213I probably benign Het
Fgfr3 G A 5: 33,735,213 R745H probably damaging Het
Gm1527 A T 3: 28,920,417 I460F probably damaging Het
Gm382 T C X: 127,061,695 I501T possibly damaging Het
Igfl3 T C 7: 18,180,247 probably benign Het
Igkv2-109 T C 6: 68,302,918 I41T probably damaging Het
Itga4 A C 2: 79,279,166 K236N possibly damaging Het
Kcnj1 A T 9: 32,396,861 T194S possibly damaging Het
Kif17 A G 4: 138,268,990 T93A probably damaging Het
Lamc1 G T 1: 153,227,685 N1378K possibly damaging Het
Ldlrad2 T C 4: 137,573,644 M28V probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Met T C 6: 17,553,337 S1041P probably damaging Het
Rimbp3 T C 16: 17,213,232 S1507P probably benign Het
Slc7a2 A G 8: 40,914,993 D598G possibly damaging Het
Tdo2 A G 3: 81,958,789 probably null Het
Ugt2b37 T C 5: 87,240,875 D493G probably damaging Het
Vps50 G A 6: 3,555,011 V395I possibly damaging Het
Other mutations in Atp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Atp7a APN X 106109830 unclassified probably damaging 0.97
IGL02023:Atp7a APN X 106094982 unclassified probably damaging 0.99
IGL02597:Atp7a APN X 106069888 unclassified probably benign 0.44
brown UTSW X 106088491 missense possibly damaging 0.48
Golden UTSW X unclassified
Silver UTSW X unclassified
Tigrou UTSW X 106088407 nonsense
Tigrou-like UTSW X 106105250 missense probably damaging 1.00
Ups UTSW X 106088491 missense possibly damaging 0.48
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 intron 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 OnAug 02, 2016