Incidental Mutation 'IGL01408:Nkain2'
ID 79887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkain2
Ensembl Gene ENSMUSG00000069670
Gene Name Na+/K+ transporting ATPase interacting 2
Synonyms Tcba1, 6330571D19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01408
Quality Score
Status
Chromosome 10
Chromosomal Location 31565306-32766458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32278237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 63 (T63S)
Ref Sequence ENSEMBL: ENSMUSP00000151959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092603] [ENSMUST00000191234] [ENSMUST00000218645] [ENSMUST00000219125]
AlphaFold Q4PNJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000092603
AA Change: T63S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090265
Gene: ENSMUSG00000069670
AA Change: T63S

DomainStartEndE-ValueType
Pfam:NKAIN 1 91 1.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191234
AA Change: T63S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140463
Gene: ENSMUSG00000069670
AA Change: T63S

DomainStartEndE-ValueType
Pfam:NKAIN 1 208 4.1e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218645
AA Change: T63S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219125
AA Change: T63S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,294,193 (GRCm39) R145G probably damaging Het
Akr1c21 T A 13: 4,627,431 (GRCm39) M175K probably benign Het
Apol7a C T 15: 77,273,530 (GRCm39) A311T probably damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Bmp2k C T 5: 97,234,823 (GRCm39) Q749* probably null Het
Ccdc141 G A 2: 76,876,023 (GRCm39) A669V probably benign Het
Cndp2 A C 18: 84,689,036 (GRCm39) C249G probably benign Het
Cnr1 A G 4: 33,944,802 (GRCm39) I397V possibly damaging Het
Col19a1 T C 1: 24,345,331 (GRCm39) probably benign Het
Dbn1 T C 13: 55,630,117 (GRCm39) probably benign Het
Dmgdh C T 13: 93,845,803 (GRCm39) P486S probably damaging Het
Dpys A G 15: 39,656,702 (GRCm39) V455A possibly damaging Het
Farp2 A G 1: 93,546,702 (GRCm39) N907S probably benign Het
Fndc3c1 C T X: 105,476,378 (GRCm39) E894K probably benign Het
Gm6685 A T 11: 28,289,473 (GRCm39) N114K probably damaging Het
Golga3 A T 5: 110,365,675 (GRCm39) probably null Het
Grin2c A G 11: 115,151,708 (GRCm39) L84P probably damaging Het
Gucy2c A G 6: 136,675,009 (GRCm39) F1001L probably benign Het
Hcn4 A G 9: 58,767,169 (GRCm39) H910R unknown Het
Kdm4b T C 17: 56,660,518 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,043,284 (GRCm39) T497A probably benign Het
Man2c1 A G 9: 57,048,884 (GRCm39) Y924C probably damaging Het
Nlrp1a T A 11: 71,013,742 (GRCm39) T503S probably benign Het
Or52n3 T C 7: 104,530,037 (GRCm39) V41A probably benign Het
Or52n4 T A 7: 104,294,136 (GRCm39) I146F possibly damaging Het
Pitrm1 T A 13: 6,623,078 (GRCm39) C780S probably damaging Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rapgef4 C T 2: 72,005,185 (GRCm39) R193* probably null Het
Rbm20 A G 19: 53,840,044 (GRCm39) E1011G possibly damaging Het
Rfx3 A T 19: 27,746,050 (GRCm39) D685E probably benign Het
Ror1 T C 4: 100,190,984 (GRCm39) S114P probably damaging Het
Slc17a6 A G 7: 51,318,863 (GRCm39) K502E probably benign Het
Spink2 A T 5: 77,359,174 (GRCm39) probably benign Het
Sptb A T 12: 76,659,921 (GRCm39) I993N possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tes A T 6: 17,099,878 (GRCm39) Y291F probably damaging Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Trpa1 T C 1: 14,959,637 (GRCm39) E683G probably benign Het
Vmn2r73 T C 7: 85,521,455 (GRCm39) D171G probably benign Het
Wbp11 A G 6: 136,791,612 (GRCm39) probably benign Het
Wfdc12 A G 2: 164,031,581 (GRCm39) *86R probably null Het
Zfp281 T C 1: 136,553,853 (GRCm39) V277A probably damaging Het
Other mutations in Nkain2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Nkain2 APN 10 32,205,840 (GRCm39) missense probably damaging 1.00
R1395:Nkain2 UTSW 10 32,766,185 (GRCm39) unclassified probably benign
R1876:Nkain2 UTSW 10 32,766,435 (GRCm39) unclassified probably benign
R1995:Nkain2 UTSW 10 32,278,347 (GRCm39) missense possibly damaging 0.84
R2000:Nkain2 UTSW 10 32,766,281 (GRCm39) unclassified probably benign
R2101:Nkain2 UTSW 10 32,205,813 (GRCm39) missense possibly damaging 0.74
R5514:Nkain2 UTSW 10 31,827,189 (GRCm39) missense probably damaging 1.00
R5801:Nkain2 UTSW 10 32,278,264 (GRCm39) missense probably damaging 0.99
R6024:Nkain2 UTSW 10 31,827,281 (GRCm39) missense probably damaging 0.99
R7329:Nkain2 UTSW 10 32,765,892 (GRCm39) makesense probably null
R8069:Nkain2 UTSW 10 32,766,034 (GRCm39) missense unknown
R9461:Nkain2 UTSW 10 32,766,125 (GRCm39) missense unknown
R9598:Nkain2 UTSW 10 32,278,291 (GRCm39) missense probably damaging 1.00
R9634:Nkain2 UTSW 10 32,766,262 (GRCm39) missense unknown
Z1176:Nkain2 UTSW 10 32,278,267 (GRCm39) nonsense probably null
Posted On 2013-11-05