Incidental Mutation 'IGL02023:Atp7a'
ID 184030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp7a
Ensembl Gene ENSMUSG00000033792
Gene Name ATPase, Cu++ transporting, alpha polypeptide
Synonyms Menkes protein, MNK, br
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # IGL02023
Quality Score
Status
Chromosome X
Chromosomal Location 105070882-105168532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105138588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 604 (I604F)
Ref Sequence ENSEMBL: ENSMUSP00000109186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055941] [ENSMUST00000113557]
AlphaFold Q64430
Predicted Effect possibly damaging
Transcript: ENSMUST00000055941
AA Change: I605F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: I605F

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 damaging
Transcript: ENSMUST00000113557
AA Change: I604F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: I604F

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Hycc2 G A 1: 58,569,274 (GRCm39) A435V possibly damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Lsg1 T C 16: 30,404,494 (GRCm39) H35R probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Or2aj6 A T 16: 19,443,158 (GRCm39) S231T probably benign Het
Osbpl10 T A 9: 115,055,790 (GRCm39) V654D probably damaging Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Timm23 A G 14: 31,915,804 (GRCm39) probably benign Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Atp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Atp7a APN X 105,153,436 (GRCm39) missense probably damaging 0.97
IGL02597:Atp7a APN X 105,113,494 (GRCm39) missense probably benign 0.44
IGL03285:Atp7a APN X 105,153,381 (GRCm39) missense probably benign
brown UTSW X 105,132,097 (GRCm39) missense probably damaging 1.00
Golden UTSW X 0 () unclassified
Silver UTSW X 0 () unclassified
Tigrou UTSW X 105,132,012 (GRCm39) missense probably benign 0.04
Tigrou-like UTSW X 105,148,856 (GRCm39) missense probably damaging 1.00
Ups UTSW X 105,132,097 (GRCm39) missense probably damaging 1.00
R0240:Atp7a UTSW X 105,153,447 (GRCm39) missense probably damaging 1.00
R0240:Atp7a UTSW X 105,153,447 (GRCm39) missense probably damaging 1.00
R3434:Atp7a UTSW X 105,138,463 (GRCm39) missense probably benign 0.00
R3435:Atp7a UTSW X 105,138,463 (GRCm39) missense probably benign 0.00
R3756:Atp7a UTSW X 105,145,449 (GRCm39) splice site probably null
R4911:Atp7a UTSW X 105,163,980 (GRCm39) missense probably damaging 0.99
R5072:Atp7a UTSW X 105,153,374 (GRCm39) missense probably benign
R5073:Atp7a UTSW X 105,153,374 (GRCm39) missense probably benign
R5074:Atp7a UTSW X 105,153,374 (GRCm39) missense probably benign
Posted On 2014-05-07