Incidental Mutation 'IGL01408:Nkain2'
ID79887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkain2
Ensembl Gene ENSMUSG00000069670
Gene NameNa+/K+ transporting ATPase interacting 2
Synonyms6330571D19Rik, Tcba1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01408
Quality Score
Status
Chromosome10
Chromosomal Location31689310-32890462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32402241 bp
ZygosityHeterozygous
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]
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: 52,403,366 R145G probably damaging Het
Akr1c21 T A 13: 4,577,432 M175K probably benign Het
Apol7a C T 15: 77,389,330 A311T probably damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Bmp2k C T 5: 97,086,964 Q749* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dmgdh C T 13: 93,709,295 P486S probably damaging Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Spink2 A T 5: 77,211,327 probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Nkain2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Nkain2 APN 10 32329844 missense probably damaging 1.00
R1395:Nkain2 UTSW 10 32890189 unclassified probably benign
R1876:Nkain2 UTSW 10 32890439 unclassified probably benign
R1995:Nkain2 UTSW 10 32402351 missense possibly damaging 0.84
R2000:Nkain2 UTSW 10 32890285 unclassified probably benign
R2101:Nkain2 UTSW 10 32329817 missense possibly damaging 0.74
R5514:Nkain2 UTSW 10 31951193 missense probably damaging 1.00
R5801:Nkain2 UTSW 10 32402268 missense probably damaging 0.99
R6024:Nkain2 UTSW 10 31951285 missense probably damaging 0.99
R7329:Nkain2 UTSW 10 32889896 makesense probably null
Posted On2013-11-05