Incidental Mutation 'IGL02937:Nkain2'
ID364385
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 #IGL02937
Quality Score
Status
Chromosome10
Chromosomal Location31689310-32890462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32329844 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 65 (Y65C)
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: Y65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090265
Gene: ENSMUSG00000069670
AA Change: Y65C

DomainStartEndE-ValueType
Pfam:NKAIN 1 91 1.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191234
AA Change: Y65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140463
Gene: ENSMUSG00000069670
AA Change: Y65C

DomainStartEndE-ValueType
Pfam:NKAIN 1 208 4.1e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218645
AA Change: Y65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219125
AA Change: Y65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cc2d1b A G 4: 108,631,894 E796G probably damaging Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cldn1 A G 16: 26,360,873 F148S probably damaging Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Pabpc4l A C 3: 46,446,290 D306E probably benign Het
Parp12 A T 6: 39,102,581 Y332N probably damaging Het
Parvb A T 15: 84,308,953 K316M probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Nkain2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Nkain2 APN 10 32402241 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 On2015-12-18