Incidental Mutation 'IGL02596:Atp4b'
ID299847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp4b
Ensembl Gene ENSMUSG00000031449
Gene NameATPase, H+/K+ exchanging, beta polypeptide
SynonymsH+,K+-ATPase, H,K-ATPase-Beta, H+/K+-ATPase beta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02596
Quality Score
Status
Chromosome8
Chromosomal Location13386205-13396825 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13393471 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 69 (Y69F)
Ref Sequence ENSEMBL: ENSMUSP00000033826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033826]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033826
AA Change: Y69F

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: Y69F

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 7 288 5.7e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211331
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,950,667 Q11H possibly damaging Het
4931408C20Rik T A 1: 26,684,002 H699L probably benign Het
Armcx5 T A X: 135,746,519 I448K probably damaging Het
Ccdc7b T A 8: 129,072,478 V12E probably benign Het
Cdc5l C A 17: 45,424,604 probably benign Het
Clptm1l C T 13: 73,613,666 R330C probably benign Het
Cpq C T 15: 33,213,014 R60W probably damaging Het
Cpvl T C 6: 53,932,010 Y256C probably damaging Het
Cryzl2 A T 1: 157,464,969 D107V probably damaging Het
Cyp2e1 G A 7: 140,770,118 V239M probably damaging Het
Cyp2j7 T A 4: 96,215,422 D292V possibly damaging Het
Dcaf1 A G 9: 106,863,021 Y1202C probably damaging Het
Dnah3 T C 7: 119,938,914 N3616S probably benign Het
Enam A G 5: 88,503,026 D723G probably benign Het
Eps8l1 G A 7: 4,470,872 R226H probably damaging Het
Erich2 A G 2: 70,512,803 probably benign Het
Esyt3 A C 9: 99,328,015 L271V probably benign Het
Fer1l4 T C 2: 156,039,132 N838S probably benign Het
Gad1 T C 2: 70,594,684 Y441H probably damaging Het
Gja1 G T 10: 56,388,252 V236F possibly damaging Het
Gpr156 T C 16: 37,978,724 I100T probably benign Het
Hace1 A G 10: 45,700,640 T803A possibly damaging Het
Jagn1 G A 6: 113,447,601 V145I probably benign Het
Kdm4b C A 17: 56,399,706 T899K probably benign Het
Klk1b8 G A 7: 43,952,763 V40M probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mast1 G T 8: 84,917,771 A843E probably benign Het
Mbd1 T A 18: 74,276,797 probably benign Het
Mdga1 A G 17: 29,832,405 probably benign Het
Mlh3 A G 12: 85,240,958 probably null Het
Olfr1115 C A 2: 87,252,129 T64K probably damaging Het
Olfr1463 A T 19: 13,234,399 I50F probably damaging Het
Pwp1 A G 10: 85,872,018 probably null Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc12a7 T A 13: 73,785,123 V100E probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tgfb1i1 T A 7: 128,248,896 M1K probably null Het
Tubgcp6 T A 15: 89,100,914 E1657V probably damaging Het
Zfp770 A G 2: 114,195,827 V587A probably benign Het
Zxdc A G 6: 90,373,709 probably null Het
Other mutations in Atp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Atp4b APN 8 13389679 missense probably damaging 1.00
R0558:Atp4b UTSW 8 13393523 missense possibly damaging 0.62
R0829:Atp4b UTSW 8 13390098 missense probably damaging 1.00
R0963:Atp4b UTSW 8 13390014 missense probably benign 0.00
R1528:Atp4b UTSW 8 13389693 missense possibly damaging 0.78
R1605:Atp4b UTSW 8 13393489 missense probably damaging 1.00
R2022:Atp4b UTSW 8 13387477 missense possibly damaging 0.88
R3824:Atp4b UTSW 8 13393549 missense probably damaging 1.00
R3825:Atp4b UTSW 8 13393549 missense probably damaging 1.00
R4108:Atp4b UTSW 8 13396640 critical splice donor site probably null
R4400:Atp4b UTSW 8 13388810 missense probably damaging 1.00
R4606:Atp4b UTSW 8 13389998 missense probably damaging 1.00
R4681:Atp4b UTSW 8 13389700 missense probably benign 0.01
R6056:Atp4b UTSW 8 13388782 missense probably damaging 1.00
R7485:Atp4b UTSW 8 13386732 missense probably benign
R7888:Atp4b UTSW 8 13389811 missense probably damaging 0.98
R7971:Atp4b UTSW 8 13389811 missense probably damaging 0.98
Z1177:Atp4b UTSW 8 13389794 missense probably benign 0.00
Z1177:Atp4b UTSW 8 13396684 small deletion probably benign
Posted On2015-04-16