Incidental Mutation 'IGL01021:Scnn1b'
ID53699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scnn1b
Ensembl Gene ENSMUSG00000030873
Gene Namesodium channel, nonvoltage-gated 1 beta
SynonymsENaC beta
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01021
Quality Score
Status
Chromosome7
Chromosomal Location121865038-121918514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 121918036 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 632 (D632Y)
Ref Sequence ENSEMBL: ENSMUSP00000033161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000057576] [ENSMUST00000205438] [ENSMUST00000205520]
Predicted Effect probably damaging
Transcript: ENSMUST00000033161
AA Change: D632Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: D632Y

DomainStartEndE-ValueType
Pfam:ASC 29 541 2.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057576
SMART Domains Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951

DomainStartEndE-ValueType
Pfam:COG7 2 767 N/A 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Scnn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Scnn1b APN 7 121914332 splice site probably null
IGL02191:Scnn1b APN 7 121917513 missense probably damaging 1.00
IGL02197:Scnn1b APN 7 121902890 missense probably null 0.89
IGL02355:Scnn1b APN 7 121917547 missense probably damaging 1.00
IGL02362:Scnn1b APN 7 121917547 missense probably damaging 1.00
IGL02554:Scnn1b APN 7 121917523 missense probably damaging 1.00
IGL02834:Scnn1b APN 7 121912062 missense probably damaging 1.00
R0266:Scnn1b UTSW 7 121912475 missense probably damaging 1.00
R0494:Scnn1b UTSW 7 121899458 missense probably damaging 1.00
R0849:Scnn1b UTSW 7 121912475 missense probably damaging 1.00
R0872:Scnn1b UTSW 7 121914330 critical splice donor site probably null
R0899:Scnn1b UTSW 7 121917715 missense probably damaging 1.00
R1386:Scnn1b UTSW 7 121902488 missense possibly damaging 0.60
R1406:Scnn1b UTSW 7 121902544 critical splice donor site probably null
R1406:Scnn1b UTSW 7 121902544 critical splice donor site probably null
R1662:Scnn1b UTSW 7 121902328 missense probably benign 0.00
R1782:Scnn1b UTSW 7 121917961 missense probably benign
R1829:Scnn1b UTSW 7 121902845 missense probably benign 0.00
R1861:Scnn1b UTSW 7 121914261 missense probably damaging 1.00
R1928:Scnn1b UTSW 7 121910447 missense probably damaging 1.00
R4016:Scnn1b UTSW 7 121914332 splice site probably null
R4192:Scnn1b UTSW 7 121902739 missense possibly damaging 0.63
R4504:Scnn1b UTSW 7 121912475 missense probably damaging 1.00
R4745:Scnn1b UTSW 7 121902286 missense probably benign 0.03
R4888:Scnn1b UTSW 7 121902887 missense probably benign 0.06
R4941:Scnn1b UTSW 7 121912008 missense probably damaging 1.00
R5121:Scnn1b UTSW 7 121902887 missense probably benign 0.06
R6379:Scnn1b UTSW 7 121915328 missense probably benign 0.10
R6516:Scnn1b UTSW 7 121912112 missense probably damaging 1.00
R6650:Scnn1b UTSW 7 121902820 missense probably damaging 0.97
R6730:Scnn1b UTSW 7 121902877 missense probably damaging 1.00
R7151:Scnn1b UTSW 7 121917886 missense probably damaging 1.00
Posted On2013-06-28