Incidental Mutation 'R5757:Scnn1g'
ID 445101
Institutional Source Beutler Lab
Gene Symbol Scnn1g
Ensembl Gene ENSMUSG00000000216
Gene Name sodium channel, nonvoltage-gated 1 gamma
Synonyms ENaC gamma
MMRRC Submission 043360-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.591) question?
Stock # R5757 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 121333702-121367698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121337438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 100 (C100S)
Ref Sequence ENSEMBL: ENSMUSP00000000221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000221]
AlphaFold Q9WU39
Predicted Effect probably damaging
Transcript: ENSMUST00000000221
AA Change: C100S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: C100S

DomainStartEndE-ValueType
Pfam:ASC 32 558 6.4e-91 PFAM
low complexity region 618 631 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,933,794 (GRCm39) A1204T probably benign Het
Adcy5 G T 16: 35,092,451 (GRCm39) R604L probably damaging Het
Ago4 A T 4: 126,419,877 (GRCm39) N33K probably damaging Het
Arid5b T C 10: 67,937,909 (GRCm39) Y406C probably damaging Het
Asgr1 A C 11: 69,945,778 (GRCm39) H18P probably benign Het
Asph A C 4: 9,637,722 (GRCm39) probably null Het
Brd4 G A 17: 32,420,272 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,302,779 (GRCm39) I133N probably damaging Het
Cdon A C 9: 35,364,068 (GRCm39) H62P probably damaging Het
Clec4b1 T A 6: 123,046,713 (GRCm39) Y157* probably null Het
Clip1 G A 5: 123,765,460 (GRCm39) T810I probably benign Het
Crocc A T 4: 140,770,875 (GRCm39) L184Q probably damaging Het
Fat2 C T 11: 55,143,172 (GRCm39) G4226R probably damaging Het
Fbxo30 T A 10: 11,166,165 (GRCm39) C296S probably benign Het
Fndc3a T C 14: 72,794,025 (GRCm39) K883E probably benign Het
Glyr1 A T 16: 4,836,856 (GRCm39) M436K probably benign Het
Gm525 A T 11: 88,965,872 (GRCm39) Q38L probably benign Het
Gnas T A 2: 174,187,040 (GRCm39) V941D probably damaging Het
Hectd4 G C 5: 121,486,682 (GRCm39) E3226Q possibly damaging Het
Ints13 G A 6: 146,451,604 (GRCm39) R714C probably benign Het
Kif12 A T 4: 63,088,755 (GRCm39) W182R probably damaging Het
Kif21a A G 15: 90,835,548 (GRCm39) L1272P probably damaging Het
Klhl14 A C 18: 21,687,791 (GRCm39) Y544D probably damaging Het
Kntc1 T C 5: 123,945,372 (GRCm39) probably null Het
Lama1 G A 17: 68,045,782 (GRCm39) R229Q possibly damaging Het
Ltbp1 T A 17: 75,580,944 (GRCm39) probably null Het
Map4k5 A T 12: 69,871,429 (GRCm39) C498S probably damaging Het
Myh9 A T 15: 77,655,362 (GRCm39) V1198E probably benign Het
Ncoa6 T C 2: 155,253,528 (GRCm39) D950G probably damaging Het
Obsl1 G T 1: 75,469,699 (GRCm39) A1106D probably damaging Het
Or5m9 T A 2: 85,876,910 (GRCm39) V28E possibly damaging Het
Or8k27 T C 2: 86,275,922 (GRCm39) I135V probably benign Het
Otog T A 7: 45,890,545 (GRCm39) probably null Het
Oxtr A T 6: 112,454,222 (GRCm39) I14N probably damaging Het
Pfkfb3 A T 2: 11,485,141 (GRCm39) S490R probably damaging Het
Polk A C 13: 96,620,760 (GRCm39) M560R probably benign Het
Polq C T 16: 36,907,043 (GRCm39) H2335Y probably benign Het
Prr14 T A 7: 127,074,725 (GRCm39) V419D possibly damaging Het
Rflnb A G 11: 75,912,992 (GRCm39) V132A probably damaging Het
Rxfp1 T G 3: 79,568,627 (GRCm39) I283L possibly damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Sfrp2 G C 3: 83,673,933 (GRCm39) G29R possibly damaging Het
Spop A G 11: 95,381,208 (GRCm39) H312R probably damaging Het
Tpx2 A G 2: 152,727,151 (GRCm39) probably null Het
Wdr4 A T 17: 31,718,063 (GRCm39) V337E probably damaging Het
Zbtb11 A G 16: 55,827,392 (GRCm39) N953D probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Scnn1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Scnn1g APN 7 121,339,660 (GRCm39) missense probably benign 0.00
IGL01824:Scnn1g APN 7 121,365,516 (GRCm39) missense probably benign 0.00
IGL02133:Scnn1g APN 7 121,342,922 (GRCm39) missense probably damaging 1.00
IGL02529:Scnn1g APN 7 121,341,669 (GRCm39) splice site probably benign
IGL02814:Scnn1g APN 7 121,339,588 (GRCm39) missense probably damaging 1.00
IGL03091:Scnn1g APN 7 121,345,906 (GRCm39) missense probably damaging 1.00
IGL03253:Scnn1g APN 7 121,337,156 (GRCm39) nonsense probably null
PIT4504001:Scnn1g UTSW 7 121,341,554 (GRCm39) missense probably benign 0.30
R0230:Scnn1g UTSW 7 121,345,984 (GRCm39) splice site probably benign
R0324:Scnn1g UTSW 7 121,339,778 (GRCm39) missense possibly damaging 0.62
R0367:Scnn1g UTSW 7 121,345,802 (GRCm39) splice site probably benign
R0534:Scnn1g UTSW 7 121,366,647 (GRCm39) missense probably benign 0.00
R1747:Scnn1g UTSW 7 121,359,686 (GRCm39) missense probably damaging 0.99
R2004:Scnn1g UTSW 7 121,337,411 (GRCm39) nonsense probably null
R2197:Scnn1g UTSW 7 121,366,519 (GRCm39) missense probably damaging 1.00
R4396:Scnn1g UTSW 7 121,339,650 (GRCm39) missense probably benign 0.01
R4804:Scnn1g UTSW 7 121,362,303 (GRCm39) frame shift probably null
R4805:Scnn1g UTSW 7 121,345,825 (GRCm39) missense probably damaging 1.00
R5219:Scnn1g UTSW 7 121,365,489 (GRCm39) missense probably damaging 1.00
R5882:Scnn1g UTSW 7 121,366,581 (GRCm39) missense possibly damaging 0.79
R5910:Scnn1g UTSW 7 121,337,318 (GRCm39) missense probably damaging 0.99
R6381:Scnn1g UTSW 7 121,366,722 (GRCm39) missense probably benign 0.00
R6666:Scnn1g UTSW 7 121,366,611 (GRCm39) missense probably benign 0.00
R6735:Scnn1g UTSW 7 121,341,486 (GRCm39) missense probably benign 0.02
R6813:Scnn1g UTSW 7 121,339,576 (GRCm39) missense probably damaging 1.00
R6860:Scnn1g UTSW 7 121,339,576 (GRCm39) missense probably damaging 1.00
R6887:Scnn1g UTSW 7 121,359,667 (GRCm39) missense probably benign 0.01
R7289:Scnn1g UTSW 7 121,337,304 (GRCm39) nonsense probably null
R7488:Scnn1g UTSW 7 121,362,657 (GRCm39) missense probably benign 0.00
R7630:Scnn1g UTSW 7 121,359,704 (GRCm39) missense probably damaging 1.00
R7888:Scnn1g UTSW 7 121,342,878 (GRCm39) missense probably damaging 0.97
R7917:Scnn1g UTSW 7 121,342,916 (GRCm39) missense probably damaging 1.00
R9051:Scnn1g UTSW 7 121,341,566 (GRCm39) missense possibly damaging 0.86
R9312:Scnn1g UTSW 7 121,339,818 (GRCm39) missense probably benign 0.00
Z1177:Scnn1g UTSW 7 121,359,698 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACCTGATGCATTGGTACTGC -3'
(R):5'- TGAAAACATGCAGGTCTGAAATCG -3'

Sequencing Primer
(F):5'- GATGCATTGGTACTGCCTGAACAC -3'
(R):5'- CTGAAATCGATCTTGGCGATC -3'
Posted On 2016-11-21