Incidental Mutation 'IGL03091:Scnn1g'
ID 418381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scnn1g
Ensembl Gene ENSMUSG00000000216
Gene Name sodium channel, nonvoltage-gated 1 gamma
Synonyms ENaC gamma
Accession Numbers
Essential gene? Possibly essential (E-score: 0.667) question?
Stock # IGL03091
Quality Score
Status
Chromosome 7
Chromosomal Location 121734479-121768475 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121746683 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 343 (Y343C)
Ref Sequence ENSEMBL: ENSMUSP00000000221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000221]
AlphaFold Q9WU39
Predicted Effect probably damaging
Transcript: ENSMUST00000000221
AA Change: Y343C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: Y343C

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,459,189 Y314N probably damaging Het
Aknad1 A G 3: 108,751,903 T78A possibly damaging Het
Arhgap33 G A 7: 30,528,293 P494S probably damaging Het
Babam2 T A 5: 31,785,678 probably null Het
Ces2g T C 8: 104,964,754 V174A probably damaging Het
Chd1l G A 3: 97,563,547 R811C probably damaging Het
Crot A T 5: 8,966,897 H598Q probably benign Het
Dtx2 C T 5: 136,012,374 S211L probably damaging Het
Duox2 T G 2: 122,289,474 M852L probably benign Het
Fmc1 G T 6: 38,539,235 S72I probably damaging Het
Fut1 T C 7: 45,619,527 C302R probably damaging Het
Gm6401 T C 14: 41,964,658 T184A possibly damaging Het
Gsdma2 C T 11: 98,652,002 T29I probably damaging Het
Lgi2 C A 5: 52,563,965 probably null Het
Lipe A G 7: 25,380,755 L926P probably damaging Het
Lrp1 T A 10: 127,559,124 I2511F probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Nbea A G 3: 56,085,304 S294P probably damaging Het
Neb T A 2: 52,271,312 H2156L probably benign Het
Neo1 A T 9: 58,978,668 N335K probably damaging Het
Nox3 G T 17: 3,665,844 Q429K probably benign Het
Pkd1l1 T C 11: 8,855,564 R1671G probably damaging Het
Plec T C 15: 76,189,303 T504A possibly damaging Het
Pou5f1 G T 17: 35,510,042 R127L probably benign Het
Prkdc T A 16: 15,705,310 probably benign Het
Rassf8 T A 6: 145,815,810 N287K probably benign Het
Rdh16 T C 10: 127,813,633 probably benign Het
Ryr1 G A 7: 29,083,486 A1901V possibly damaging Het
Sema5a A G 15: 32,538,734 probably benign Het
Slc9b2 G A 3: 135,329,030 V310M probably damaging Het
Stox2 T A 8: 47,193,187 I477F possibly damaging Het
Terb1 A T 8: 104,469,154 H548Q probably benign Het
Tsks G A 7: 44,957,895 M547I possibly damaging Het
Ttc25 T A 11: 100,550,250 Y102* probably null Het
Tuba8 G A 6: 121,220,444 E22K probably damaging Het
Wee2 T C 6: 40,462,034 F364L probably benign Het
Zfp644 A G 5: 106,636,858 Y608H probably damaging Het
Other mutations in Scnn1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Scnn1g APN 7 121740437 missense probably benign 0.00
IGL01824:Scnn1g APN 7 121766293 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
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
R7917:Scnn1g UTSW 7 121743693 missense probably damaging 1.00
R9051:Scnn1g UTSW 7 121742343 missense possibly damaging 0.86
R9312:Scnn1g UTSW 7 121740595 missense probably benign 0.00
Z1177:Scnn1g UTSW 7 121760475 missense probably benign
Posted On 2016-08-02