Incidental Mutation 'R1406:Scnn1b'
ID 160386
Institutional Source Beutler Lab
Gene Symbol Scnn1b
Ensembl Gene ENSMUSG00000030873
Gene Name sodium channel, nonvoltage-gated 1 beta
Synonyms ENaC beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1406 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 121464261-121517737 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 121501767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000205438] [ENSMUST00000205520] [ENSMUST00000206079]
AlphaFold Q9WU38
Predicted Effect probably null
Transcript: ENSMUST00000033161
SMART Domains Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873

DomainStartEndE-ValueType
Pfam:ASC 29 541 2.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205438
Predicted Effect probably benign
Transcript: ENSMUST00000205520
Predicted Effect probably benign
Transcript: ENSMUST00000206079
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.2%
  • 20x: 76.0%
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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,750,189 (GRCm39) T733A probably benign Het
Antxrl A G 14: 33,794,999 (GRCm39) N476D possibly damaging Het
Armc8 G T 9: 99,405,301 (GRCm39) P268Q probably benign Het
Asb8 C A 15: 98,034,304 (GRCm39) G84C probably damaging Het
BC035044 A T 6: 128,862,047 (GRCm39) probably null Het
Caprin1 A G 2: 103,606,332 (GRCm39) F303L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Ctdspl2 G A 2: 121,837,349 (GRCm39) R371Q probably damaging Het
Dctn4 T A 18: 60,689,402 (GRCm39) D431E probably benign Het
Dhx40 T C 11: 86,688,571 (GRCm39) E284G probably benign Het
Dhx9 A G 1: 153,340,684 (GRCm39) V652A probably damaging Het
Fnip2 G T 3: 79,415,398 (GRCm39) N213K possibly damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Itch A G 2: 155,048,274 (GRCm39) E546G possibly damaging Het
Map3k20 A T 2: 72,219,838 (GRCm39) I257F probably damaging Het
Mdc1 C T 17: 36,164,424 (GRCm39) T1324I probably benign Het
Mertk T C 2: 128,613,406 (GRCm39) I474T probably benign Het
Nav3 A G 10: 109,719,495 (GRCm39) V156A possibly damaging Het
Nbea A G 3: 55,944,702 (GRCm39) V554A probably benign Het
Or10z1 T A 1: 174,078,427 (GRCm39) E22V possibly damaging Het
Or13c7c C T 4: 43,835,582 (GRCm39) V303M possibly damaging Het
Or4f57 A G 2: 111,790,926 (GRCm39) V164A probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Pcare T C 17: 72,056,156 (GRCm39) N1174D probably benign Het
Rab32 A G 10: 10,426,637 (GRCm39) V103A probably damaging Het
Rp1 T C 1: 4,422,144 (GRCm39) E262G possibly damaging Het
Rtn4 A G 11: 29,658,236 (GRCm39) T797A probably benign Het
Sall1 A T 8: 89,759,072 (GRCm39) I344K probably benign Het
Slc7a2 G T 8: 41,358,622 (GRCm39) G322W probably damaging Het
Snx29 A G 16: 11,217,657 (GRCm39) M153V probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Ush1c A C 7: 45,874,965 (GRCm39) probably null Het
Vmn2r8 C T 5: 108,950,234 (GRCm39) M204I probably benign Het
Zfp839 C T 12: 110,832,744 (GRCm39) T554M probably damaging Het
Other mutations in Scnn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Scnn1b APN 7 121,517,259 (GRCm39) missense probably damaging 1.00
IGL01108:Scnn1b APN 7 121,513,555 (GRCm39) splice site probably null
IGL02191:Scnn1b APN 7 121,516,736 (GRCm39) missense probably damaging 1.00
IGL02197:Scnn1b APN 7 121,502,113 (GRCm39) missense probably null 0.89
IGL02355:Scnn1b APN 7 121,516,770 (GRCm39) missense probably damaging 1.00
IGL02362:Scnn1b APN 7 121,516,770 (GRCm39) missense probably damaging 1.00
IGL02554:Scnn1b APN 7 121,516,746 (GRCm39) missense probably damaging 1.00
IGL02834:Scnn1b APN 7 121,511,285 (GRCm39) missense probably damaging 1.00
R0266:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R0494:Scnn1b UTSW 7 121,498,681 (GRCm39) missense probably damaging 1.00
R0849:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R0872:Scnn1b UTSW 7 121,513,553 (GRCm39) critical splice donor site probably null
R0899:Scnn1b UTSW 7 121,516,938 (GRCm39) missense probably damaging 1.00
R1386:Scnn1b UTSW 7 121,501,711 (GRCm39) missense possibly damaging 0.60
R1406:Scnn1b UTSW 7 121,501,767 (GRCm39) critical splice donor site probably null
R1662:Scnn1b UTSW 7 121,501,551 (GRCm39) missense probably benign 0.00
R1782:Scnn1b UTSW 7 121,517,184 (GRCm39) missense probably benign
R1829:Scnn1b UTSW 7 121,502,068 (GRCm39) missense probably benign 0.00
R1861:Scnn1b UTSW 7 121,513,484 (GRCm39) missense probably damaging 1.00
R1928:Scnn1b UTSW 7 121,509,670 (GRCm39) missense probably damaging 1.00
R4016:Scnn1b UTSW 7 121,513,555 (GRCm39) splice site probably null
R4192:Scnn1b UTSW 7 121,501,962 (GRCm39) missense possibly damaging 0.63
R4504:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R4745:Scnn1b UTSW 7 121,501,509 (GRCm39) missense probably benign 0.03
R4888:Scnn1b UTSW 7 121,502,110 (GRCm39) missense probably benign 0.06
R4941:Scnn1b UTSW 7 121,511,231 (GRCm39) missense probably damaging 1.00
R5121:Scnn1b UTSW 7 121,502,110 (GRCm39) missense probably benign 0.06
R6379:Scnn1b UTSW 7 121,514,551 (GRCm39) missense probably benign 0.10
R6516:Scnn1b UTSW 7 121,511,335 (GRCm39) missense probably damaging 1.00
R6650:Scnn1b UTSW 7 121,502,043 (GRCm39) missense probably damaging 0.97
R6730:Scnn1b UTSW 7 121,502,100 (GRCm39) missense probably damaging 1.00
R7151:Scnn1b UTSW 7 121,517,109 (GRCm39) missense probably damaging 1.00
R8670:Scnn1b UTSW 7 121,498,472 (GRCm39) missense probably benign 0.06
R8675:Scnn1b UTSW 7 121,498,474 (GRCm39) missense probably damaging 1.00
R8930:Scnn1b UTSW 7 121,502,067 (GRCm39) missense probably damaging 0.99
R8932:Scnn1b UTSW 7 121,502,067 (GRCm39) missense probably damaging 0.99
R9170:Scnn1b UTSW 7 121,511,326 (GRCm39) missense probably benign 0.32
R9204:Scnn1b UTSW 7 121,498,522 (GRCm39) missense probably benign 0.20
R9339:Scnn1b UTSW 7 121,511,254 (GRCm39) missense probably damaging 0.98
R9466:Scnn1b UTSW 7 121,502,013 (GRCm39) missense probably damaging 1.00
R9696:Scnn1b UTSW 7 121,498,462 (GRCm39) start codon destroyed probably damaging 0.99
R9709:Scnn1b UTSW 7 121,509,693 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGTCCTGGAAAAGATTCTGGCTC -3'
(R):5'- AGGTACACACAGTTCCATTGGCAC -3'

Sequencing Primer
(F):5'- AAGATTCTGGCTCCAGAGGC -3'
(R):5'- CATTGGCACTGCACTGTGAG -3'
Posted On 2014-03-14