Incidental Mutation 'IGL01824:Scnn1g'
ID154631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scnn1g
Ensembl Gene ENSMUSG00000000216
Gene Namesodium channel, nonvoltage-gated 1 gamma
SynonymsENaC gamma
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.564) question?
Stock #IGL01824
Quality Score
Status
Chromosome7
Chromosomal Location121734479-121768475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121766293 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 523 (M523V)
Ref Sequence ENSEMBL: ENSMUSP00000000221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000221]
Predicted Effect probably benign
Transcript: ENSMUST00000000221
AA Change: M523V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: M523V

DomainStartEndE-ValueType
Pfam:ASC 32 558 6.4e-91 PFAM
low complexity region 618 631 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 84,151,289 R186C probably benign Het
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Chrm1 T C 19: 8,679,130 W400R probably damaging Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Olfr1272 T A 2: 90,281,919 I219F probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Pnp C T 14: 50,951,413 T221I probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Sys1 T G 2: 164,463,305 L56R probably damaging Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Scnn1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Scnn1g APN 7 121740437 missense probably benign 0.00
IGL02133:Scnn1g APN 7 121743699 missense probably damaging 1.00
IGL02529:Scnn1g APN 7 121742446 splice site probably benign
IGL02814:Scnn1g APN 7 121740365 missense probably damaging 1.00
IGL03091:Scnn1g APN 7 121746683 missense probably damaging 1.00
IGL03253:Scnn1g APN 7 121737933 nonsense probably null
PIT4504001:Scnn1g UTSW 7 121742331 missense probably benign 0.30
R0230:Scnn1g UTSW 7 121746761 splice site probably benign
R0324:Scnn1g UTSW 7 121740555 missense possibly damaging 0.62
R0367:Scnn1g UTSW 7 121746579 splice site probably benign
R0534:Scnn1g UTSW 7 121767424 missense probably benign 0.00
R1747:Scnn1g UTSW 7 121760463 missense probably damaging 0.99
R2004:Scnn1g UTSW 7 121738188 nonsense probably null
R2197:Scnn1g UTSW 7 121767296 missense probably damaging 1.00
R4396:Scnn1g UTSW 7 121740427 missense probably benign 0.01
R4804:Scnn1g UTSW 7 121763080 frame shift probably null
R4805:Scnn1g UTSW 7 121746602 missense probably damaging 1.00
R5219:Scnn1g UTSW 7 121766266 missense probably damaging 1.00
R5757:Scnn1g UTSW 7 121738215 missense probably damaging 1.00
R5882:Scnn1g UTSW 7 121767358 missense possibly damaging 0.79
R5910:Scnn1g UTSW 7 121738095 missense probably damaging 0.99
R6381:Scnn1g UTSW 7 121767499 missense probably benign 0.00
R6666:Scnn1g UTSW 7 121767388 missense probably benign 0.00
R6735:Scnn1g UTSW 7 121742263 missense probably benign 0.02
R6813:Scnn1g UTSW 7 121740353 missense probably damaging 1.00
R6860:Scnn1g UTSW 7 121740353 missense probably damaging 1.00
R6887:Scnn1g UTSW 7 121760444 missense probably benign 0.01
R7289:Scnn1g UTSW 7 121738081 nonsense probably null
R7488:Scnn1g UTSW 7 121763434 missense probably benign 0.00
R7630:Scnn1g UTSW 7 121760481 missense probably damaging 1.00
R7888:Scnn1g UTSW 7 121743655 missense probably damaging 0.97
Z1177:Scnn1g UTSW 7 121760475 missense probably benign
Posted On2014-02-04