Incidental Mutation 'R4192:Nkain3'
ID 318345
Institutional Source Beutler Lab
Gene Symbol Nkain3
Ensembl Gene ENSMUSG00000055761
Gene Name Na+/K+ transporting ATPase interacting 3
Synonyms E130310K16Rik
MMRRC Submission 041023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4192 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 20118874-20778866 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 20485003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 25 (Q25*)
Ref Sequence ENSEMBL: ENSMUSP00000113113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102998] [ENSMUST00000119374]
AlphaFold Q3URJ8
Predicted Effect probably null
Transcript: ENSMUST00000102998
AA Change: Q25*
SMART Domains Protein: ENSMUSP00000100063
Gene: ENSMUSG00000055761
AA Change: Q25*

DomainStartEndE-ValueType
Pfam:NKAIN 1 162 1e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119374
AA Change: Q25*
SMART Domains Protein: ENSMUSP00000113113
Gene: ENSMUSG00000055761
AA Change: Q25*

DomainStartEndE-ValueType
Pfam:NKAIN 1 180 7e-83 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Add3 C A 19: 53,230,955 (GRCm39) D543E probably benign Het
Angpt4 A C 2: 151,785,238 (GRCm39) D418A probably benign Het
Ano8 A T 8: 71,935,936 (GRCm39) V260D probably damaging Het
Cfh C T 1: 140,030,454 (GRCm39) R860H possibly damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Dnajb9 A T 12: 44,253,860 (GRCm39) D182E probably benign Het
Epb42 G T 2: 120,860,570 (GRCm39) probably null Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fer1l6 A G 15: 58,518,998 (GRCm39) D1710G probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gm8369 C T 19: 11,479,596 (GRCm39) P9S probably damaging Het
Il17ra A G 6: 120,458,472 (GRCm39) D541G probably damaging Het
Ints4 T G 7: 97,156,940 (GRCm39) H337Q probably damaging Het
Itgam A G 7: 127,663,904 (GRCm39) T44A probably benign Het
Lyst C A 13: 13,915,098 (GRCm39) T3264N probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Myo3a T A 2: 22,412,188 (GRCm39) F728I probably damaging Het
Nacad T C 11: 6,555,534 (GRCm39) E72G probably benign Het
Oca2 T C 7: 55,946,997 (GRCm39) F342S probably damaging Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Osbpl6 T A 2: 76,415,573 (GRCm39) L499Q probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Peak1 A T 9: 56,166,025 (GRCm39) N634K probably damaging Het
Pitpnm3 T C 11: 71,942,785 (GRCm39) K818R possibly damaging Het
Rab3gap1 T A 1: 127,853,207 (GRCm39) probably benign Het
Rcc1l T C 5: 134,184,648 (GRCm39) T385A probably benign Het
Rrm2 T C 12: 24,758,377 (GRCm39) I11T probably benign Het
Scnn1b A G 7: 121,501,962 (GRCm39) T207A possibly damaging Het
Spata31f3 A T 4: 42,874,185 (GRCm39) probably benign Het
Syt12 T A 19: 4,497,709 (GRCm39) probably benign Het
Tmprss6 A T 15: 78,330,857 (GRCm39) probably null Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Ube2q2l T C 6: 136,378,435 (GRCm39) T132A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r27 A C 6: 58,192,812 (GRCm39) I14R probably damaging Het
Other mutations in Nkain3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02610:Nkain3 APN 4 20,469,459 (GRCm39) missense probably damaging 1.00
I1329:Nkain3 UTSW 4 20,158,329 (GRCm39) splice site probably benign
IGL03055:Nkain3 UTSW 4 20,778,308 (GRCm39) missense probably benign 0.01
R0726:Nkain3 UTSW 4 20,158,388 (GRCm39) missense possibly damaging 0.67
R1485:Nkain3 UTSW 4 20,484,932 (GRCm39) missense probably damaging 1.00
R1600:Nkain3 UTSW 4 20,469,528 (GRCm39) splice site probably benign
R1702:Nkain3 UTSW 4 20,158,339 (GRCm39) critical splice donor site probably null
R3707:Nkain3 UTSW 4 20,484,920 (GRCm39) missense possibly damaging 0.65
R4392:Nkain3 UTSW 4 20,282,985 (GRCm39) missense possibly damaging 0.89
R4410:Nkain3 UTSW 4 20,778,284 (GRCm39) missense probably benign 0.20
R4721:Nkain3 UTSW 4 20,485,015 (GRCm39) missense probably damaging 0.98
R5333:Nkain3 UTSW 4 20,484,889 (GRCm39) missense probably benign 0.04
R5978:Nkain3 UTSW 4 20,485,026 (GRCm39) splice site probably null
R7208:Nkain3 UTSW 4 20,282,892 (GRCm39) missense probably benign 0.01
R8921:Nkain3 UTSW 4 20,245,902 (GRCm39) missense unknown
R9090:Nkain3 UTSW 4 20,484,897 (GRCm39) missense probably damaging 1.00
R9271:Nkain3 UTSW 4 20,484,897 (GRCm39) missense probably damaging 1.00
R9374:Nkain3 UTSW 4 20,778,431 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGGGTGAGTAGCAGAGCATC -3'
(R):5'- AGCTTGATCATCAGCACCAC -3'

Sequencing Primer
(F):5'- GTAGCAGAGCATCCTCTTATAGGC -3'
(R):5'- TTGATCATCAGCACCACAGGAAAAAG -3'
Posted On 2015-06-10