Incidental Mutation 'IGL02529:Scnn1g'
ID 297253
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: 0.591) question?
Stock # IGL02529
Quality Score
Status
Chromosome 7
Chromosomal Location 121333702-121367698 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 121341669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000221]
AlphaFold Q9WU39
Predicted Effect probably benign
Transcript: ENSMUST00000000221
SMART Domains Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,190 (GRCm39) H925L probably benign Het
Agpat5 T A 8: 18,931,770 (GRCm39) Y297N possibly damaging Het
Apobec3 C T 15: 79,781,888 (GRCm39) probably benign Het
Atpaf1 C A 4: 115,648,466 (GRCm39) A161E probably damaging Het
Bnc1 A T 7: 81,627,116 (GRCm39) D91E probably damaging Het
Capg G A 6: 72,532,829 (GRCm39) V98I probably benign Het
Ccdc7b C T 8: 129,904,706 (GRCm39) L115F possibly damaging Het
Ces2a T A 8: 105,463,851 (GRCm39) probably benign Het
Cldn6 T G 17: 23,900,291 (GRCm39) V85G probably damaging Het
Clec2e T C 6: 129,075,459 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx38 T C 8: 110,285,645 (GRCm39) E396G probably benign Het
Dock8 A T 19: 25,078,290 (GRCm39) K532* probably null Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Gmip G A 8: 70,269,439 (GRCm39) G537E probably damaging Het
Hacd1 T C 2: 14,050,013 (GRCm39) H64R probably damaging Het
Hdac3 G T 18: 38,077,185 (GRCm39) Q230K probably benign Het
Htt C T 5: 34,976,387 (GRCm39) probably benign Het
Il18r1 A G 1: 40,526,219 (GRCm39) D255G possibly damaging Het
Krt82 T A 15: 101,458,831 (GRCm39) R70* probably null Het
Krt9 G T 11: 100,080,792 (GRCm39) H353Q probably damaging Het
Kyat3 T C 3: 142,426,235 (GRCm39) I57T probably benign Het
L1td1 A G 4: 98,625,658 (GRCm39) K618E probably benign Het
Limch1 C A 5: 67,159,956 (GRCm39) N617K possibly damaging Het
Lsm8 T C 6: 18,851,651 (GRCm39) F34S probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mmrn2 C A 14: 34,120,570 (GRCm39) A480E possibly damaging Het
Mthfd1 A G 12: 76,350,483 (GRCm39) I474V probably benign Het
Mycl A G 4: 122,890,770 (GRCm39) K152R probably damaging Het
Numa1 A G 7: 101,649,160 (GRCm39) probably null Het
Or5p54 G T 7: 107,554,423 (GRCm39) V192F possibly damaging Het
Otog A C 7: 45,909,381 (GRCm39) D617A probably damaging Het
Ppef2 A G 5: 92,392,596 (GRCm39) I267T probably damaging Het
Ptprq A G 10: 107,471,226 (GRCm39) Y1392H probably benign Het
Rasgrp3 G T 17: 75,832,097 (GRCm39) K639N possibly damaging Het
Rgs19 C T 2: 181,330,943 (GRCm39) R203H probably benign Het
Tmem181b-ps T C 17: 6,734,320 (GRCm39) noncoding transcript Het
Vmn2r118 A G 17: 55,917,870 (GRCm39) V214A possibly damaging Het
Zfp811 T C 17: 33,016,789 (GRCm39) Y417C 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
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
R5757:Scnn1g UTSW 7 121,337,438 (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
Posted On 2015-04-16