Incidental Mutation 'IGL01801:Atp1b1'
ID 155524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1b1
Ensembl Gene ENSMUSG00000026576
Gene Name ATPase, Na+/K+ transporting, beta 1 polypeptide
Synonyms Atpb-1, Atpb, sodium/potassium ATPase beta subunit
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # IGL01801
Quality Score
Status
Chromosome 1
Chromosomal Location 164264678-164285924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164265918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 281 (G281D)
Ref Sequence ENSEMBL: ENSMUSP00000027863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027863] [ENSMUST00000191947] [ENSMUST00000193367] [ENSMUST00000193683] [ENSMUST00000193808]
AlphaFold P14094
Predicted Effect probably damaging
Transcript: ENSMUST00000027863
AA Change: G281D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027863
Gene: ENSMUSG00000026576
AA Change: G281D

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 3 298 1.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191947
SMART Domains Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192710
Predicted Effect probably benign
Transcript: ENSMUST00000193367
SMART Domains Protein: ENSMUSP00000141777
Gene: ENSMUSG00000026576

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 1 132 2.7e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193591
Predicted Effect probably benign
Transcript: ENSMUST00000193683
SMART Domains Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193808
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193980
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an integral membrane protein that comprises a subunit of an ATP-metabolizing enzyme responsible for transporting sodium and potassium ions across the plasma membrane. This enzyme regulates the electrochemical gradient of these ions in cells, and plays a central role in osmoregulation and signal transmission in nerves and muscles, among other biological processes. The encoded protein is the non-catalytic beta subunit; it works together with a catalytic alpha subunit and a gamma subunit. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac tissue exhibit age-related cardiac hypertrophy and reduced cardiac function, insensitivity to ouabain, and increased heart dysfunction following aortic constriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,870 (GRCm39) noncoding transcript Het
Acsm4 C T 7: 119,306,486 (GRCm39) T308I possibly damaging Het
Adamtsl1 A G 4: 86,117,559 (GRCm39) N174S probably benign Het
Cacna1e T C 1: 154,347,086 (GRCm39) N1027S probably null Het
Cacnb4 A T 2: 52,324,723 (GRCm39) N446K probably benign Het
Cfap210 A T 2: 69,606,623 (GRCm39) probably benign Het
Col13a1 T C 10: 61,679,393 (GRCm39) D215G probably damaging Het
Cyp2d22 T C 15: 82,257,046 (GRCm39) T312A probably benign Het
Cyp4f40 A T 17: 32,895,279 (GRCm39) N467I probably damaging Het
Dnaaf10 T C 11: 17,169,015 (GRCm39) I62T probably benign Het
Ehd4 A T 2: 119,932,822 (GRCm39) D201E probably damaging Het
Farsb T C 1: 78,435,216 (GRCm39) T444A probably benign Het
Gabra6 A C 11: 42,205,935 (GRCm39) I307R probably damaging Het
Impg2 G A 16: 56,057,111 (GRCm39) R287H probably damaging Het
Khdrbs1 A G 4: 129,635,574 (GRCm39) V127A probably benign Het
Lcp1 A T 14: 75,436,815 (GRCm39) T54S probably benign Het
Mrgpra6 T C 7: 46,835,572 (GRCm39) D283G possibly damaging Het
Mterf4 T C 1: 93,232,642 (GRCm39) R70G probably benign Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Or4n4 A G 14: 50,519,665 (GRCm39) I15T probably benign Het
Pax8 A G 2: 24,334,576 (GRCm39) probably null Het
Prmt9 T C 8: 78,289,069 (GRCm39) V257A probably damaging Het
Sspo T C 6: 48,434,072 (GRCm39) V959A probably damaging Het
Vps54 T C 11: 21,225,131 (GRCm39) probably null Het
Wdr70 C T 15: 7,916,805 (GRCm39) probably null Het
Other mutations in Atp1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Atp1b1 APN 1 164,285,330 (GRCm39) missense probably benign 0.34
R0941:Atp1b1 UTSW 1 164,270,829 (GRCm39) missense probably benign
R1034:Atp1b1 UTSW 1 164,281,057 (GRCm39) critical splice donor site probably null
R1597:Atp1b1 UTSW 1 164,265,889 (GRCm39) missense probably damaging 1.00
R2202:Atp1b1 UTSW 1 164,281,084 (GRCm39) missense probably benign 0.01
R3811:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R3817:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R3819:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R3880:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R4420:Atp1b1 UTSW 1 164,281,127 (GRCm39) missense probably damaging 1.00
R4945:Atp1b1 UTSW 1 164,265,867 (GRCm39) missense probably damaging 0.98
Posted On 2014-02-04