Incidental Mutation 'IGL02597:Atp7a'
| ID |
299910 |
| 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)
|
| Stock # |
IGL02597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
105070882-105168532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105113494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q64430 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,972 (GRCm39) |
V132A |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
| Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
| Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
| Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,400 (GRCm39) |
N444T |
possibly damaging |
Het |
| Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
| Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
| Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
| Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem161a |
A |
T |
8: 70,634,693 (GRCm39) |
R297S |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
| Zap70 |
T |
A |
1: 36,811,001 (GRCm39) |
Y178* |
probably null |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,456 (GRCm39) |
F60L |
probably damaging |
Het |
|
| Other mutations in Atp7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Atp7a
|
APN |
X |
105,153,436 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02023:Atp7a
|
APN |
X |
105,138,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation