Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Scnn1b'

356651

Institutional Source

Beutler Lab

Gene Symbol

Scnn1b

Ensembl Gene

ENSMUSG00000030873

Gene Name

sodium channel, nonvoltage-gated 1 beta

Synonyms

ENaC beta

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121464261-121517737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121501509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000145900 (fasta)

Gene Model

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

AlphaFold

Q9WU38

Predicted Effect

probably benign
Transcript: ENSMUST00000033161
AA Change: V108A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: V108A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205438

Predicted Effect

probably benign
Transcript: ENSMUST00000205520
AA Change: V108A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206079

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	probably damaging	Het

Other mutations in Scnn1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CACTCTTTTGCTAGGACACATC -3'
(R):5'- GGCTGTCCCCAAACAAATTG -3'

Sequencing Primer
(F):5'- ATGGGCTTGAACTTAATGCTCC -3'
(R):5'- GGCTGTCCCCAAACAAATTGAGAAC -3'

Posted On

2015-11-11