Incidental Mutation 'R0086:Scnn1a'
ID 60580
Institutional Source Beutler Lab
Gene Symbol Scnn1a
Ensembl Gene ENSMUSG00000030340
Gene Name sodium channel, nonvoltage-gated 1 alpha
Synonyms Scnn1, mENaC, ENaC alpha
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0086 (G1)
Quality Score 131
Status Validated
Chromosome 6
Chromosomal Location 125297622-125321906 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 125319550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000080164
Gene: ENSMUSG00000030340

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
SMART Domains Protein: ENSMUSP00000134940
Gene: ENSMUSG00000030340

DomainStartEndE-ValueType
Pfam:ASC 62 575 1.9e-112 PFAM
low complexity region 621 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176442
SMART Domains Protein: ENSMUSP00000135336
Gene: ENSMUSG00000030340

DomainStartEndE-ValueType
Pfam:ASC 1 494 6.3e-105 PFAM
low complexity region 540 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176655
SMART Domains Protein: ENSMUSP00000135798
Gene: ENSMUSG00000030340

DomainStartEndE-ValueType
Pfam:ASC 1 494 6.4e-105 PFAM
low complexity region 540 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177329
SMART Domains Protein: ENSMUSP00000134929
Gene: ENSMUSG00000030340

DomainStartEndE-ValueType
Pfam:ASC 62 575 1.9e-112 PFAM
low complexity region 621 651 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Scnn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Scnn1a APN 6 125,315,342 (GRCm39) missense probably benign 0.11
IGL01793:Scnn1a APN 6 125,320,666 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- AACGCCTTTATTATGCAACCATTGTTCC -3'
(R):5'- GCAGAGAGCTTGTAGTTGGTCACAC -3'

Sequencing Primer
(F):5'- GCAACCATTGTTCCCATTTTTTTTC -3'
(R):5'- TGCAGACAGATAAGAGTGCTTAGTG -3'
Posted On 2013-07-24