Incidental Mutation 'R5666:Nkain4'
ID 444403
Institutional Source Beutler Lab
Gene Symbol Nkain4
Ensembl Gene ENSMUSG00000027574
Gene Name Na+/K+ transporting ATPase interacting 4
Synonyms C030019F02Rik
MMRRC Submission 043309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5666 (G1)
Quality Score 191
Status Not validated
Chromosome 2
Chromosomal Location 180576565-180596492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180584995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 73 (L73P)
Ref Sequence ENSEMBL: ENSMUSP00000119925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103053] [ENSMUST00000108873] [ENSMUST00000137274] [ENSMUST00000148905] [ENSMUST00000151494]
AlphaFold Q9JMG4
Predicted Effect probably damaging
Transcript: ENSMUST00000103053
AA Change: L100P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574
AA Change: L100P

DomainStartEndE-ValueType
Pfam:NKAIN 1 206 4.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108873
AA Change: L100P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574
AA Change: L100P

DomainStartEndE-ValueType
Pfam:NKAIN 1 180 2.9e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134231
Predicted Effect probably benign
Transcript: ENSMUST00000137274
SMART Domains Protein: ENSMUSP00000118349
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 77 3.6e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000139929
AA Change: L52P
SMART Domains Protein: ENSMUSP00000116965
Gene: ENSMUSG00000027574
AA Change: L52P

DomainStartEndE-ValueType
Pfam:NKAIN 15 144 2.3e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148905
AA Change: L73P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574
AA Change: L73P

DomainStartEndE-ValueType
Pfam:NKAIN 1 66 1.4e-36 PFAM
Pfam:NKAIN 64 140 8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151494
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Abce1 C A 8: 80,416,906 (GRCm39) E368D probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Bop1 T C 15: 76,338,433 (GRCm39) E503G probably benign Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Chd3 T C 11: 69,244,177 (GRCm39) E1202G possibly damaging Het
Cmya5 T C 13: 93,182,457 (GRCm39) I3568V possibly damaging Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Cpxm2 C T 7: 131,656,625 (GRCm39) E546K probably benign Het
Cyp2j5 C T 4: 96,546,930 (GRCm39) V195I probably benign Het
Ddb2 C T 2: 91,042,926 (GRCm39) V353M probably damaging Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
E2f1 T A 2: 154,411,101 (GRCm39) probably benign Het
Ephb3 A G 16: 21,041,241 (GRCm39) N732S probably benign Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Foxm1 C T 6: 128,350,130 (GRCm39) S339L possibly damaging Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Gfpt1 A T 6: 87,030,795 (GRCm39) I60F possibly damaging Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Hs2st1 A T 3: 144,275,554 (GRCm39) V22E probably damaging Het
Hspa9 T C 18: 35,087,300 (GRCm39) I2V probably null Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Myh1 T A 11: 67,112,178 (GRCm39) I1744N probably benign Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Ndc1 T C 4: 107,246,723 (GRCm39) V382A possibly damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm39) D64V probably damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nmt1 C T 11: 102,949,041 (GRCm39) R299* probably null Het
Or1j20 T A 2: 36,760,401 (GRCm39) D274E probably benign Het
Or2y8 A C 11: 52,035,525 (GRCm39) Y277* probably null Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Or5k1 G A 16: 58,617,424 (GRCm39) P262S possibly damaging Het
Padi2 G T 4: 140,676,542 (GRCm39) R560L possibly damaging Het
Palmd T C 3: 116,717,750 (GRCm39) N249S possibly damaging Het
Pde1c A C 6: 56,103,842 (GRCm39) probably null Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pla2g2d T A 4: 138,507,591 (GRCm39) C82S probably damaging Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Slc7a4 A G 16: 17,393,815 (GRCm39) probably benign Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Sstr2 T A 11: 113,515,539 (GRCm39) W153R probably damaging Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tas2r130 T C 6: 131,607,342 (GRCm39) N151S possibly damaging Het
Tex52 T C 6: 128,352,518 (GRCm39) S13P probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K probably benign Het
Other mutations in Nkain4
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8562:Nkain4 UTSW 2 180,584,938 (GRCm39) missense probably benign 0.01
IGL02799:Nkain4 UTSW 2 180,577,728 (GRCm39) splice site probably null
R0648:Nkain4 UTSW 2 180,584,905 (GRCm39) missense possibly damaging 0.91
R1619:Nkain4 UTSW 2 180,577,794 (GRCm39) missense probably damaging 0.98
R4472:Nkain4 UTSW 2 180,596,415 (GRCm39) start codon destroyed probably null 0.80
R5670:Nkain4 UTSW 2 180,584,995 (GRCm39) missense probably damaging 0.99
R6191:Nkain4 UTSW 2 180,577,797 (GRCm39) missense probably damaging 1.00
R6191:Nkain4 UTSW 2 180,577,796 (GRCm39) missense probably damaging 1.00
R6713:Nkain4 UTSW 2 180,585,970 (GRCm39) missense probably damaging 1.00
R7228:Nkain4 UTSW 2 180,596,362 (GRCm39) critical splice donor site probably null
R8776:Nkain4 UTSW 2 180,585,920 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Nkain4 UTSW 2 180,585,920 (GRCm39) missense probably damaging 1.00
R9355:Nkain4 UTSW 2 180,577,775 (GRCm39) missense possibly damaging 0.60
R9732:Nkain4 UTSW 2 180,585,901 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGGAAAAGCCCCGACTC -3'
(R):5'- TAAGCAGAGACCTTCCTCTTGTG -3'

Sequencing Primer
(F):5'- GACTCTGCCCCAGGTAGAAC -3'
(R):5'- TCTTGTGGCCAAACCCAAGAGG -3'
Posted On 2016-11-09