Incidental Mutation 'IGL02951:Atp13a3'
ID366018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp13a3
Ensembl Gene ENSMUSG00000022533
Gene NameATPase type 13A3
SynonymsLOC224088, LOC385637, LOC224087
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.430) question?
Stock #IGL02951
Quality Score
Status
Chromosome16
Chromosomal Location30312423-30405975 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to G at 30338621 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013]
Predicted Effect probably null
Transcript: ENSMUST00000061350
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533

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 null
Transcript: ENSMUST00000100013
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533

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 probably benign
Transcript: ENSMUST00000229503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229750
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Atp13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Atp13a3 APN 16 30351279 missense probably damaging 0.99
IGL00490:Atp13a3 APN 16 30352354 missense probably benign 0.31
IGL01844:Atp13a3 APN 16 30361963 missense probably benign 0.17
IGL01994:Atp13a3 APN 16 30337518 missense possibly damaging 0.90
IGL02057:Atp13a3 APN 16 30332364 missense probably benign
IGL02083:Atp13a3 APN 16 30347706 missense possibly damaging 0.89
IGL02348:Atp13a3 APN 16 30351228 critical splice donor site probably null
IGL02352:Atp13a3 APN 16 30351084 missense probably damaging 1.00
IGL02359:Atp13a3 APN 16 30351084 missense probably damaging 1.00
IGL02643:Atp13a3 APN 16 30333796 missense probably null
IGL02687:Atp13a3 APN 16 30337551 missense probably damaging 1.00
IGL03190:Atp13a3 APN 16 30322948 missense probably benign 0.00
H8562:Atp13a3 UTSW 16 30359725 nonsense probably null
H8786:Atp13a3 UTSW 16 30359725 nonsense probably null
PIT4812001:Atp13a3 UTSW 16 30362578 missense probably damaging 0.98
R0725:Atp13a3 UTSW 16 30351387 missense probably damaging 1.00
R1208:Atp13a3 UTSW 16 30354247 missense probably benign 0.21
R1208:Atp13a3 UTSW 16 30354247 missense probably benign 0.21
R1244:Atp13a3 UTSW 16 30361836 missense probably benign 0.00
R1326:Atp13a3 UTSW 16 30352310 missense probably damaging 1.00
R1613:Atp13a3 UTSW 16 30332300 missense probably damaging 1.00
R1672:Atp13a3 UTSW 16 30332274 missense possibly damaging 0.96
R1709:Atp13a3 UTSW 16 30315841 missense probably benign 0.37
R1733:Atp13a3 UTSW 16 30357266 missense probably benign 0.35
R2086:Atp13a3 UTSW 16 30352298 missense possibly damaging 0.89
R2128:Atp13a3 UTSW 16 30354276 missense probably damaging 0.97
R2421:Atp13a3 UTSW 16 30349825 missense probably benign 0.29
R3427:Atp13a3 UTSW 16 30344593 missense probably benign 0.05
R3783:Atp13a3 UTSW 16 30354249 missense probably damaging 1.00
R4058:Atp13a3 UTSW 16 30354246 missense possibly damaging 0.94
R4059:Atp13a3 UTSW 16 30354246 missense possibly damaging 0.94
R4798:Atp13a3 UTSW 16 30341240 missense probably damaging 1.00
R5045:Atp13a3 UTSW 16 30339876 missense probably benign 0.24
R5216:Atp13a3 UTSW 16 30340284 missense probably damaging 1.00
R5704:Atp13a3 UTSW 16 30321879 missense probably benign 0.18
R5876:Atp13a3 UTSW 16 30362734 missense probably benign 0.13
R5947:Atp13a3 UTSW 16 30362700 missense probably benign 0.01
R6291:Atp13a3 UTSW 16 30336243 missense probably damaging 0.99
R6324:Atp13a3 UTSW 16 30332285 missense possibly damaging 0.72
R6328:Atp13a3 UTSW 16 30336235 missense probably damaging 0.99
R6372:Atp13a3 UTSW 16 30343455 missense probably damaging 0.99
R6446:Atp13a3 UTSW 16 30361869 missense probably benign 0.00
R7016:Atp13a3 UTSW 16 30338490 missense possibly damaging 0.54
R7086:Atp13a3 UTSW 16 30351063 missense possibly damaging 0.87
R7241:Atp13a3 UTSW 16 30352277 missense possibly damaging 0.93
R7589:Atp13a3 UTSW 16 30344615 missense probably benign 0.04
R8098:Atp13a3 UTSW 16 30354297 missense possibly damaging 0.85
R8191:Atp13a3 UTSW 16 30349780 missense probably damaging 1.00
R8299:Atp13a3 UTSW 16 30333801 missense probably damaging 1.00
R8785:Atp13a3 UTSW 16 30350982 missense probably benign 0.04
Posted On2015-12-18