Incidental Mutation 'IGL01793:Scnn1a'
ID 155271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scnn1a
Ensembl Gene ENSMUSG00000030340
Gene Name sodium channel, nonvoltage-gated 1 alpha
Synonyms Scnn1, mENaC, ENaC alpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01793
Quality Score
Status
Chromosome 6
Chromosomal Location 125297622-125321906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125320666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 547 (V547A)
Ref Sequence ENSEMBL: ENSMUSP00000134929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081440] [ENSMUST00000175966] [ENSMUST00000176110] [ENSMUST00000176442] [ENSMUST00000176655] [ENSMUST00000177329]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081440
AA Change: V573A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080164
Gene: ENSMUSG00000030340
AA Change: V573A

DomainStartEndE-ValueType
low complexity region 13 18 N/A INTRINSIC
Pfam:ASC 88 600 1.1e-93 PFAM
low complexity region 647 677 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175966
SMART Domains Protein: ENSMUSP00000135551
Gene: ENSMUSG00000030340

DomainStartEndE-ValueType
Pfam:ASC 62 264 3.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176110
AA Change: V547A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134940
Gene: ENSMUSG00000030340
AA Change: V547A

DomainStartEndE-ValueType
Pfam:ASC 62 575 1.9e-112 PFAM
low complexity region 621 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176442
AA Change: V466A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135336
Gene: ENSMUSG00000030340
AA Change: V466A

DomainStartEndE-ValueType
Pfam:ASC 1 494 6.3e-105 PFAM
low complexity region 540 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176655
AA Change: V466A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135798
Gene: ENSMUSG00000030340
AA Change: V466A

DomainStartEndE-ValueType
Pfam:ASC 1 494 6.4e-105 PFAM
low complexity region 540 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177329
AA Change: V547A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134929
Gene: ENSMUSG00000030340
AA Change: V547A

DomainStartEndE-ValueType
Pfam:ASC 62 575 1.9e-112 PFAM
low complexity region 621 651 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,375,783 (GRCm39) I871V possibly damaging Het
Bbs7 A T 3: 36,659,831 (GRCm39) probably null Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Drc7 T C 8: 95,797,905 (GRCm39) I441T probably benign Het
Etl4 T C 2: 20,748,709 (GRCm39) I147T possibly damaging Het
Fat1 G A 8: 45,442,149 (GRCm39) M1150I probably benign Het
Fbn1 T C 2: 125,229,213 (GRCm39) S523G possibly damaging Het
Gramd1a C T 7: 30,833,838 (GRCm39) probably null Het
Hc A G 2: 34,918,202 (GRCm39) Y694H probably damaging Het
Kif6 T A 17: 49,931,521 (GRCm39) I73N probably damaging Het
Large1 A G 8: 73,585,809 (GRCm39) probably benign Het
Luzp2 G T 7: 54,821,997 (GRCm39) L171F probably damaging Het
Naaladl1 C A 19: 6,159,661 (GRCm39) probably null Het
Otop1 G A 5: 38,457,215 (GRCm39) A325T possibly damaging Het
Parp8 T A 13: 117,047,415 (GRCm39) Y219F probably damaging Het
Pkp3 A G 7: 140,668,817 (GRCm39) I660V probably benign Het
Plin3 T C 17: 56,588,540 (GRCm39) N238S probably benign Het
Ppef2 A T 5: 92,394,615 (GRCm39) D186E probably damaging Het
Rab40c G A 17: 26,103,596 (GRCm39) L156F probably damaging Het
Spag6l A G 16: 16,599,721 (GRCm39) V247A probably damaging Het
Syne1 T C 10: 5,302,191 (GRCm39) E853G possibly damaging Het
Synj2 C T 17: 6,077,500 (GRCm39) R460* probably null Het
Synj2 T A 17: 6,088,321 (GRCm39) H1457Q probably benign Het
Syt1 T C 10: 108,419,836 (GRCm39) D275G possibly damaging Het
Tmx1 A G 12: 70,505,561 (GRCm39) D108G probably benign Het
Vmn1r180 T C 7: 23,652,668 (GRCm39) V277A probably benign Het
Vmn1r83 C T 7: 12,055,504 (GRCm39) M184I probably benign Het
Zfp750 G T 11: 121,404,810 (GRCm39) P22T probably damaging Het
Zscan2 A G 7: 80,524,692 (GRCm39) I138V probably null Het
Other mutations in Scnn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Scnn1a APN 6 125,315,342 (GRCm39) missense probably benign 0.11
IGL01992:Scnn1a APN 6 125,315,900 (GRCm39) critical splice donor site probably null
IGL03280:Scnn1a APN 6 125,319,744 (GRCm39) splice site probably benign
scylla UTSW 6 125,320,208 (GRCm39) missense probably damaging 0.98
R0086:Scnn1a UTSW 6 125,319,550 (GRCm39) splice site probably benign
R0442:Scnn1a UTSW 6 125,316,100 (GRCm39) missense probably damaging 1.00
R0454:Scnn1a UTSW 6 125,299,189 (GRCm39) missense probably damaging 1.00
R0578:Scnn1a UTSW 6 125,299,207 (GRCm39) missense probably damaging 0.97
R1538:Scnn1a UTSW 6 125,315,856 (GRCm39) missense possibly damaging 0.48
R1579:Scnn1a UTSW 6 125,299,103 (GRCm39) missense probably damaging 1.00
R1803:Scnn1a UTSW 6 125,309,157 (GRCm39) missense probably damaging 0.98
R1876:Scnn1a UTSW 6 125,315,801 (GRCm39) missense probably benign 0.05
R2113:Scnn1a UTSW 6 125,314,774 (GRCm39) missense possibly damaging 0.60
R2178:Scnn1a UTSW 6 125,307,965 (GRCm39) missense probably damaging 0.96
R2960:Scnn1a UTSW 6 125,299,256 (GRCm39) missense probably damaging 1.00
R4072:Scnn1a UTSW 6 125,315,870 (GRCm39) missense probably damaging 1.00
R4603:Scnn1a UTSW 6 125,299,123 (GRCm39) missense probably damaging 1.00
R4928:Scnn1a UTSW 6 125,299,136 (GRCm39) missense probably damaging 1.00
R5436:Scnn1a UTSW 6 125,319,985 (GRCm39) missense possibly damaging 0.94
R6812:Scnn1a UTSW 6 125,314,819 (GRCm39) missense probably benign 0.09
R7089:Scnn1a UTSW 6 125,314,770 (GRCm39) missense probably benign 0.05
R8371:Scnn1a UTSW 6 125,320,806 (GRCm39) missense possibly damaging 0.83
R8372:Scnn1a UTSW 6 125,320,681 (GRCm39) missense probably damaging 0.96
R8841:Scnn1a UTSW 6 125,320,208 (GRCm39) missense probably damaging 0.98
R9509:Scnn1a UTSW 6 125,319,604 (GRCm39) missense probably damaging 0.99
X0026:Scnn1a UTSW 6 125,299,073 (GRCm39) missense probably damaging 1.00
Z1176:Scnn1a UTSW 6 125,320,855 (GRCm39) missense probably damaging 0.96
Posted On 2014-02-04