Incidental Mutation 'R3842:Nkain1'
ID 277201
Institutional Source Beutler Lab
Gene Symbol Nkain1
Ensembl Gene ENSMUSG00000078532
Gene Name Na+/K+ transporting ATPase interacting 1
Synonyms 2810426C15Rik, 2610200G18Rik
MMRRC Submission 040782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R3842 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130297197-130339644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130537296 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 80 (I80F)
Ref Sequence ENSEMBL: ENSMUSP00000138045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105993] [ENSMUST00000180884]
AlphaFold Q9D035
Predicted Effect probably damaging
Transcript: ENSMUST00000105993
AA Change: I80F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101614
Gene: ENSMUSG00000078532
AA Change: I80F

DomainStartEndE-ValueType
Pfam:NKAIN 1 206 1.5e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180498
Predicted Effect probably damaging
Transcript: ENSMUST00000180884
AA Change: I80F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138045
Gene: ENSMUSG00000078532
AA Change: I80F

DomainStartEndE-ValueType
Pfam:NKAIN 1 98 4.6e-55 PFAM
Meta Mutation Damage Score 0.4841 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 C T 14: 8,251,543 (GRCm38) R318H probably damaging Het
Adamts16 T C 13: 70,887,010 (GRCm39) Y958C possibly damaging Het
Apol7e A G 15: 77,601,789 (GRCm39) E129G probably damaging Het
Bmp2k A G 5: 97,235,010 (GRCm39) probably benign Het
Camk2g T C 14: 20,814,966 (GRCm39) H26R probably damaging Het
Cpn2 A G 16: 30,079,336 (GRCm39) S122P probably damaging Het
Dhcr24 G T 4: 106,443,002 (GRCm39) G346C probably damaging Het
Egf G A 3: 129,491,442 (GRCm39) R351* probably null Het
Exosc10 T A 4: 148,648,322 (GRCm39) Y260* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fbxo30 A G 10: 11,165,856 (GRCm39) S193G probably damaging Het
Grik3 T C 4: 125,587,747 (GRCm39) probably benign Het
Gtf3c6 A T 10: 40,130,317 (GRCm39) probably null Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hmgb2 T A 8: 57,966,388 (GRCm39) S121T probably benign Het
Hyal2 T C 9: 107,449,320 (GRCm39) S359P probably damaging Het
Itgbl1 A G 14: 124,077,977 (GRCm39) T156A possibly damaging Het
Lrrk2 C A 15: 91,640,119 (GRCm39) Q1555K probably benign Het
Myom1 T C 17: 71,352,619 (GRCm39) V349A probably damaging Het
Naa40 A T 19: 7,207,174 (GRCm39) probably benign Het
Ncam2 A G 16: 81,231,698 (GRCm39) Y54C probably damaging Het
Nemf C T 12: 69,378,723 (GRCm39) S533N probably damaging Het
Or10ak12 A G 4: 118,666,452 (GRCm39) V203A probably damaging Het
Or2ag13 G A 7: 106,473,302 (GRCm39) T50I probably benign Het
Or9k2 G A 10: 129,998,770 (GRCm39) R142C probably benign Het
Pde3b T C 7: 114,126,102 (GRCm39) S779P probably damaging Het
Prkar2a A G 9: 108,605,467 (GRCm39) Y175C probably damaging Het
Slc44a5 T C 3: 153,967,031 (GRCm39) probably benign Het
Smgc T A 15: 91,744,460 (GRCm39) probably benign Het
Tasp1 T A 2: 139,793,421 (GRCm39) S252C probably damaging Het
Tgfbrap1 A T 1: 43,098,314 (GRCm39) Y489N probably damaging Het
Topors C T 4: 40,262,123 (GRCm39) R387H probably benign Het
Ttn A G 2: 76,619,963 (GRCm39) S15902P probably damaging Het
Ttn T C 2: 76,680,647 (GRCm39) probably null Het
Other mutations in Nkain1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Nkain1 APN 4 130,532,134 (GRCm38) missense probably benign 0.00
PIT4544001:Nkain1 UTSW 4 130,532,098 (GRCm38) missense probably damaging 1.00
R1366:Nkain1 UTSW 4 130,537,316 (GRCm38) missense probably damaging 1.00
R7018:Nkain1 UTSW 4 130,532,118 (GRCm38) missense probably damaging 1.00
R7180:Nkain1 UTSW 4 130,533,925 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGGTGCCCTTTAGCCTCATC -3'
(R):5'- GATACACCGGTCTGCTATGC -3'

Sequencing Primer
(F):5'- GGGCCATTCTTGTTTTTAAGAAGCAC -3'
(R):5'- TGCTATGCAGGACTATGAAGG -3'
Posted On 2015-04-06