Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Scnn1b'

318356

Institutional Source

Beutler Lab

Gene Symbol

Scnn1b

Ensembl Gene

ENSMUSG00000030873

Gene Name

sodium channel, nonvoltage-gated 1 beta

Synonyms

ENaC beta

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121865038-121918514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121902739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

Ref Sequence

ENSEMBL: ENSMUSP00000145900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000205438] [ENSMUST00000205520] [ENSMUST00000206079]

AlphaFold

Q9WU38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033161
AA Change: T207A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: T207A

Domain	Start	End	E-Value	Type
Pfam:ASC	29	541	2.4e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205438

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205520
AA Change: T207A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000206079

Meta Mutation Damage Score

0.8010

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579	R178L	possibly damaging	Het
Acot4	T	C	12: 84,043,174		probably benign	Het
Add3	C	A	19: 53,242,524	D543E	probably benign	Het
Angpt4	A	C	2: 151,943,318	D418A	probably benign	Het
Ano8	A	T	8: 71,483,292	V260D	probably damaging	Het
Cfh	C	T	1: 140,102,716	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,207,077	D182E	probably benign	Het
E330021D16Rik	T	C	6: 136,401,437	T132A	probably benign	Het
Epb42	G	T	2: 121,030,089		probably null	Het
Fam185a	T	A	5: 21,425,124		probably benign	Het
Fam205c	A	T	4: 42,874,185		probably benign	Het
Fer1l6	A	G	15: 58,647,149	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,007,998	P210S	probably benign	Het
Gm8369	C	T	19: 11,502,232	P9S	probably damaging	Het
Il17ra	A	G	6: 120,481,511	D541G	probably damaging	Het
Ints4	T	G	7: 97,507,733	H337Q	probably damaging	Het
Itgam	A	G	7: 128,064,732	T44A	probably benign	Het
Lyst	C	A	13: 13,740,513	T3264N	probably damaging	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,407,377	F728I	probably damaging	Het
Nacad	T	C	11: 6,605,534	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003	Q25*	probably null	Het
Oca2	T	C	7: 56,297,249	F342S	probably damaging	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,585,229	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Peak1	A	T	9: 56,258,741	N634K	probably damaging	Het
Pitpnm3	T	C	11: 72,051,959	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,925,470		probably benign	Het
Rcc1l	T	C	5: 134,155,809	T385A	probably benign	Het
Rrm2	T	C	12: 24,708,378	I11T	probably benign	Het
Syt12	T	A	19: 4,447,681		probably benign	Het
Tmprss6	A	T	15: 78,446,657		probably null	Het
Ttbk1	A	T	17: 46,479,247	C91S	probably damaging	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,215,827	I14R	probably damaging	Het

Other mutations in Scnn1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Scnn1b	APN	7	121918036	missense	probably damaging	1.00
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
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
R8670:Scnn1b	UTSW	7	121899249	missense	probably benign	0.06
R8675:Scnn1b	UTSW	7	121899251	missense	probably damaging	1.00
R8930:Scnn1b	UTSW	7	121902844	missense	probably damaging	0.99
R8932:Scnn1b	UTSW	7	121902844	missense	probably damaging	0.99
R9170:Scnn1b	UTSW	7	121912103	missense	probably benign	0.32
R9204:Scnn1b	UTSW	7	121899299	missense	probably benign	0.20
R9339:Scnn1b	UTSW	7	121912031	missense	probably damaging	0.98
R9466:Scnn1b	UTSW	7	121902790	missense	probably damaging	1.00
R9696:Scnn1b	UTSW	7	121899239	start codon destroyed	probably damaging	0.99
R9709:Scnn1b	UTSW	7	121910470	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTATGTTCCCCAAGCTCATGC -3'
(R):5'- CAGGCTGCTAACTCATTCTGTC -3'

Sequencing Primer
(F):5'- AGCTCATGCATGACCTAGGATTC -3'
(R):5'- AACTCATTCTGTCTGTCAGGGCAG -3'

Posted On

2015-06-10