Incidental Mutation 'IGL02178:Atp1b4'
ID 283178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1b4
Ensembl Gene ENSMUSG00000016327
Gene Name ATPase Na+/K+ transporting, beta 4 polypeptide
Synonyms 1110020B02Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02178
Quality Score
Status
Chromosome X
Chromosomal Location 37405061-37425646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37421695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 293 (R293L)
Ref Sequence ENSEMBL: ENSMUSP00000016471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016471] [ENSMUST00000115134]
AlphaFold Q99ME6
Predicted Effect possibly damaging
Transcript: ENSMUST00000016471
AA Change: R293L

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000016471
Gene: ENSMUSG00000016327
AA Change: R293L

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:Na_K-ATPase 79 350 6.3e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115134
AA Change: R289L

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110787
Gene: ENSMUSG00000016327
AA Change: R289L

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Na_K-ATPase 65 347 1.4e-84 PFAM
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 has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,418 (GRCm39) T516S possibly damaging Het
6820408C15Rik T C 2: 152,269,921 (GRCm39) probably benign Het
Ak5 T C 3: 152,232,422 (GRCm39) D331G probably benign Het
Ar A G X: 97,349,044 (GRCm39) D675G probably damaging Het
Arhgap23 A G 11: 97,343,179 (GRCm39) D276G probably benign Het
Arhgef3 C T 14: 26,987,486 (GRCm39) R40* probably null Het
Borcs8 T C 8: 70,617,897 (GRCm39) L85P probably damaging Het
Carmil1 T G 13: 24,278,386 (GRCm39) K194N probably damaging Het
Catsper4 T A 4: 133,954,637 (GRCm39) K4N probably benign Het
Ccdc30 T C 4: 119,206,921 (GRCm39) probably benign Het
Cd101 A G 3: 100,901,082 (GRCm39) S997P probably damaging Het
Cdkl5 G A X: 159,599,889 (GRCm39) T792I probably benign Het
Cep135 A G 5: 76,743,321 (GRCm39) Y185C probably damaging Het
Clcn5 A G X: 7,052,563 (GRCm39) Y59H possibly damaging Het
Col6a1 A T 10: 76,546,909 (GRCm39) I771N unknown Het
Crispld1 C T 1: 17,832,327 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,825,718 (GRCm39) I128T possibly damaging Het
Gga1 T A 15: 78,776,247 (GRCm39) M430K probably benign Het
Has2 A G 15: 56,545,456 (GRCm39) Y49H probably damaging Het
Ivd A G 2: 118,701,915 (GRCm39) I116V probably benign Het
Krt75 T C 15: 101,481,226 (GRCm39) N183D probably benign Het
Map3k9 A T 12: 81,790,611 (GRCm39) I314N probably damaging Het
Map6d1 T G 16: 20,055,448 (GRCm39) E129D probably damaging Het
Mettl22 T C 16: 8,296,146 (GRCm39) V145A probably benign Het
Muc5ac T A 7: 141,359,184 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,461,802 (GRCm39) F1416L probably benign Het
Nlrc4 T C 17: 74,753,838 (GRCm39) I182V probably damaging Het
Or5b21 T A 19: 12,839,907 (GRCm39) I256N possibly damaging Het
Or7a35 T C 10: 78,853,554 (GRCm39) Y133H possibly damaging Het
Phc3 T C 3: 30,984,012 (GRCm39) T668A possibly damaging Het
Pheta2 T A 15: 82,227,527 (GRCm39) D15E possibly damaging Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Prkcq A C 2: 11,281,851 (GRCm39) Y460S possibly damaging Het
Prmt8 T A 6: 127,674,770 (GRCm39) E286V probably benign Het
Ptprb A T 10: 116,158,437 (GRCm39) M503L probably benign Het
Ptprq A T 10: 107,522,180 (GRCm39) D590E probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rps6kc1 A T 1: 190,604,033 (GRCm39) S196R possibly damaging Het
Ryr3 A G 2: 112,656,144 (GRCm39) Y1951H probably benign Het
Sbno1 A T 5: 124,538,258 (GRCm39) probably null Het
Sde2 T G 1: 180,678,796 (GRCm39) L20R possibly damaging Het
Slco1a5 A T 6: 142,208,414 (GRCm39) C81* probably null Het
Snx2 A G 18: 53,332,857 (GRCm39) E177G possibly damaging Het
Spg11 A T 2: 121,927,783 (GRCm39) V667D probably damaging Het
Tas2r115 T C 6: 132,714,271 (GRCm39) T227A probably benign Het
Tmed9 A G 13: 55,741,108 (GRCm39) H41R possibly damaging Het
Vmn1r35 T G 6: 66,656,086 (GRCm39) S28R probably damaging Het
Vmn2r110 A C 17: 20,804,706 (GRCm39) probably null Het
Vstm2l T C 2: 157,777,337 (GRCm39) Y72H probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zbtb4 A T 11: 69,667,255 (GRCm39) R187* probably null Het
Zfp598 A G 17: 24,896,517 (GRCm39) D198G probably damaging Het
Zp2 G T 7: 119,732,973 (GRCm39) A629E possibly damaging Het
Posted On 2015-04-16