Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Scnn1b'

393030

Institutional Source

Beutler Lab

Gene Symbol

Scnn1b

Ensembl Gene

ENSMUSG00000030873

Gene Name

sodium channel, nonvoltage-gated 1 beta

Synonyms

ENaC beta

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

121464261-121517737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121502110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 256 (H256L)

Ref Sequence

ENSEMBL: ENSMUSP00000033161 (fasta)

Gene Model

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

AlphaFold

Q9WU38

Predicted Effect

probably benign
Transcript: ENSMUST00000033161
AA Change: H256L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: H256L

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: H256L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000206079

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	probably benign	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
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
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'- GTGTGTACCTTGCGGAACTTC -3'
(R):5'- CCAGAATTCTTTGGCCTGCC -3'

Sequencing Primer
(F):5'- TTGCGGAACTTCACCAGTG -3'
(R):5'- AGCACGTCTTTCCATGAATCAGG -3'

Posted On

2016-06-15