Incidental Mutation 'IGL02355:Scnn1b'
ID 289645
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02355
Quality Score
Status
Chromosome 7
Chromosomal Location 121464261-121517737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121516770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 503 (R503H)
Ref Sequence ENSEMBL: ENSMUSP00000033161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000205438] [ENSMUST00000205520]
AlphaFold Q9WU38
Predicted Effect probably damaging
Transcript: ENSMUST00000033161
AA Change: R503H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: R503H

DomainStartEndE-ValueType
Pfam:ASC 29 541 2.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205438
Predicted Effect probably benign
Transcript: ENSMUST00000205520
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 C A 8: 25,187,207 (GRCm39) C428F probably damaging Het
Alas1 T C 9: 106,113,838 (GRCm39) Y469C probably damaging Het
Asxl1 C T 2: 153,243,706 (GRCm39) L1419F probably benign Het
Bcan C T 3: 87,901,449 (GRCm39) D418N possibly damaging Het
Cdc42bpg A G 19: 6,360,839 (GRCm39) D199G possibly damaging Het
Chst15 T C 7: 131,868,401 (GRCm39) N340D probably benign Het
Col12a1 T G 9: 79,537,993 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,631,849 (GRCm39) H116L probably benign Het
Cyp2c67 G A 19: 39,605,826 (GRCm39) R357* probably null Het
Ears2 T C 7: 121,643,773 (GRCm39) D395G probably benign Het
Fam227a A T 15: 79,528,139 (GRCm39) probably benign Het
Fap A G 2: 62,403,842 (GRCm39) V11A probably benign Het
Ganc A G 2: 120,264,238 (GRCm39) D397G probably damaging Het
Gjb6 C A 14: 57,361,752 (GRCm39) G170C possibly damaging Het
Gria2 A T 3: 80,614,244 (GRCm39) W599R probably damaging Het
Gvin-ps5 T C 7: 105,929,480 (GRCm39) noncoding transcript Het
Ighv1-64 A G 12: 115,471,236 (GRCm39) S94P probably benign Het
Kifc3 C T 8: 95,836,507 (GRCm39) A85T probably damaging Het
Lifr G A 15: 7,194,174 (GRCm39) probably null Het
Lonp2 T G 8: 87,350,874 (GRCm39) S21R probably benign Het
Nxpe3 A G 16: 55,710,949 (GRCm39) V30A probably benign Het
Olfml1 T C 7: 107,167,010 (GRCm39) V13A probably benign Het
Or10w1 T C 19: 13,632,597 (GRCm39) V268A probably benign Het
Or1af1 A G 2: 37,109,681 (GRCm39) Y60C probably damaging Het
Pcnt G A 10: 76,210,996 (GRCm39) Q2376* probably null Het
Pglyrp2 A G 17: 32,635,996 (GRCm39) L380P probably damaging Het
Plin3 A G 17: 56,593,636 (GRCm39) V26A probably benign Het
Potefam1 T C 2: 111,041,996 (GRCm39) probably benign Het
Pramel25 A G 4: 143,519,580 (GRCm39) S114G probably damaging Het
Rims1 A G 1: 22,522,288 (GRCm39) I470T probably damaging Het
Rora T C 9: 69,281,374 (GRCm39) Y329H probably damaging Het
Sec14l1 A G 11: 117,035,675 (GRCm39) D237G possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Serpina12 A G 12: 104,004,140 (GRCm39) L164P probably benign Het
Sik2 C T 9: 50,828,903 (GRCm39) W176* probably null Het
Slc2a1 T C 4: 118,993,612 (GRCm39) F483S possibly damaging Het
Speg A G 1: 75,400,559 (GRCm39) D2573G possibly damaging Het
Stil C T 4: 114,867,308 (GRCm39) S239L probably damaging Het
Tmem94 C A 11: 115,685,571 (GRCm39) S941R probably damaging Het
Tnfrsf11b T A 15: 54,115,778 (GRCm39) D273V probably damaging Het
Tns2 A G 15: 102,020,725 (GRCm39) T864A probably benign Het
Zfpm2 A G 15: 40,962,890 (GRCm39) H184R 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
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
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
Posted On 2015-04-16