Incidental Mutation 'IGL00234:Atp13a3'
ID 2105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp13a3
Ensembl Gene ENSMUSG00000022533
Gene Name ATPase type 13A3
Synonyms LOC224088, LOC385637, LOC224087
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.497) question?
Stock # IGL00234
Quality Score
Status
Chromosome 16
Chromosomal Location 30131241-30207674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30170097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 363 (Q363L)
Ref Sequence ENSEMBL: ENSMUSP00000128224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013]
AlphaFold Q5XF89
Predicted Effect probably damaging
Transcript: ENSMUST00000061350
AA Change: Q363L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: Q363L

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 139 4.9e-30 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 5.1e-36 PFAM
Pfam:HAD 491 888 7.5e-28 PFAM
Pfam:Hydrolase_like2 607 661 6.8e-8 PFAM
Pfam:Hydrolase 612 790 6.5e-11 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100013
AA Change: Q363L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: Q363L

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 146 2.9e-38 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 7.3e-41 PFAM
Pfam:Hydrolase 488 784 1.3e-12 PFAM
Pfam:HAD 491 888 1.3e-31 PFAM
Pfam:Cation_ATPase 612 660 4.5e-7 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1157 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149882
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Atp13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Atp13a3 APN 16 30,171,172 (GRCm39) missense probably benign 0.31
IGL01844:Atp13a3 APN 16 30,180,781 (GRCm39) missense probably benign 0.17
IGL01994:Atp13a3 APN 16 30,156,336 (GRCm39) missense possibly damaging 0.90
IGL02057:Atp13a3 APN 16 30,151,182 (GRCm39) missense probably benign
IGL02083:Atp13a3 APN 16 30,166,524 (GRCm39) missense possibly damaging 0.89
IGL02348:Atp13a3 APN 16 30,170,046 (GRCm39) critical splice donor site probably null
IGL02352:Atp13a3 APN 16 30,169,902 (GRCm39) missense probably damaging 1.00
IGL02359:Atp13a3 APN 16 30,169,902 (GRCm39) missense probably damaging 1.00
IGL02643:Atp13a3 APN 16 30,152,614 (GRCm39) missense probably null
IGL02687:Atp13a3 APN 16 30,156,369 (GRCm39) missense probably damaging 1.00
IGL02951:Atp13a3 APN 16 30,157,439 (GRCm39) splice site probably null
IGL03190:Atp13a3 APN 16 30,141,766 (GRCm39) missense probably benign 0.00
H8562:Atp13a3 UTSW 16 30,178,543 (GRCm39) nonsense probably null
H8786:Atp13a3 UTSW 16 30,178,543 (GRCm39) nonsense probably null
PIT4812001:Atp13a3 UTSW 16 30,181,396 (GRCm39) missense probably damaging 0.98
R0725:Atp13a3 UTSW 16 30,170,205 (GRCm39) missense probably damaging 1.00
R1208:Atp13a3 UTSW 16 30,173,065 (GRCm39) missense probably benign 0.21
R1208:Atp13a3 UTSW 16 30,173,065 (GRCm39) missense probably benign 0.21
R1244:Atp13a3 UTSW 16 30,180,654 (GRCm39) missense probably benign 0.00
R1326:Atp13a3 UTSW 16 30,171,128 (GRCm39) missense probably damaging 1.00
R1613:Atp13a3 UTSW 16 30,151,118 (GRCm39) missense probably damaging 1.00
R1672:Atp13a3 UTSW 16 30,151,092 (GRCm39) missense possibly damaging 0.96
R1709:Atp13a3 UTSW 16 30,134,659 (GRCm39) missense probably benign 0.37
R1733:Atp13a3 UTSW 16 30,176,084 (GRCm39) missense probably benign 0.35
R2086:Atp13a3 UTSW 16 30,171,116 (GRCm39) missense possibly damaging 0.89
R2128:Atp13a3 UTSW 16 30,173,094 (GRCm39) missense probably damaging 0.97
R2421:Atp13a3 UTSW 16 30,168,643 (GRCm39) missense probably benign 0.29
R3427:Atp13a3 UTSW 16 30,163,411 (GRCm39) missense probably benign 0.05
R3783:Atp13a3 UTSW 16 30,173,067 (GRCm39) missense probably damaging 1.00
R4058:Atp13a3 UTSW 16 30,173,064 (GRCm39) missense possibly damaging 0.94
R4059:Atp13a3 UTSW 16 30,173,064 (GRCm39) missense possibly damaging 0.94
R4798:Atp13a3 UTSW 16 30,160,058 (GRCm39) missense probably damaging 1.00
R5045:Atp13a3 UTSW 16 30,158,694 (GRCm39) missense probably benign 0.24
R5216:Atp13a3 UTSW 16 30,159,102 (GRCm39) missense probably damaging 1.00
R5704:Atp13a3 UTSW 16 30,140,697 (GRCm39) missense probably benign 0.18
R5876:Atp13a3 UTSW 16 30,181,552 (GRCm39) missense probably benign 0.13
R5947:Atp13a3 UTSW 16 30,181,518 (GRCm39) missense probably benign 0.01
R6291:Atp13a3 UTSW 16 30,155,061 (GRCm39) missense probably damaging 0.99
R6324:Atp13a3 UTSW 16 30,151,103 (GRCm39) missense possibly damaging 0.72
R6328:Atp13a3 UTSW 16 30,155,053 (GRCm39) missense probably damaging 0.99
R6372:Atp13a3 UTSW 16 30,162,273 (GRCm39) missense probably damaging 0.99
R6446:Atp13a3 UTSW 16 30,180,687 (GRCm39) missense probably benign 0.00
R7016:Atp13a3 UTSW 16 30,157,308 (GRCm39) missense possibly damaging 0.54
R7086:Atp13a3 UTSW 16 30,169,881 (GRCm39) missense possibly damaging 0.87
R7241:Atp13a3 UTSW 16 30,171,095 (GRCm39) missense possibly damaging 0.93
R7589:Atp13a3 UTSW 16 30,163,433 (GRCm39) missense probably benign 0.04
R8098:Atp13a3 UTSW 16 30,173,115 (GRCm39) missense possibly damaging 0.85
R8191:Atp13a3 UTSW 16 30,168,598 (GRCm39) missense probably damaging 1.00
R8299:Atp13a3 UTSW 16 30,152,619 (GRCm39) missense probably damaging 1.00
R8785:Atp13a3 UTSW 16 30,169,800 (GRCm39) missense probably benign 0.04
R9109:Atp13a3 UTSW 16 30,134,716 (GRCm39) missense possibly damaging 0.77
R9604:Atp13a3 UTSW 16 30,168,506 (GRCm39) missense probably damaging 0.99
R9800:Atp13a3 UTSW 16 30,159,051 (GRCm39) missense probably benign 0.00
Posted On 2011-12-09