Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Scnn1g'

30277

Institutional Source

Beutler Lab

Gene Symbol

Scnn1g

Ensembl Gene

ENSMUSG00000000216

Gene Name

sodium channel, nonvoltage-gated 1 gamma

Synonyms

ENaC gamma

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R0367 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

121333702-121367698 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 121345802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000221]

AlphaFold

Q9WU39

Predicted Effect

probably benign
Transcript: ENSMUST00000000221

SMART Domains

Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216

Domain	Start	End	E-Value	Type
Pfam:ASC	32	558	6.4e-91	PFAM
low complexity region	618	631	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	Het

Other mutations in Scnn1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Scnn1g	APN	7	121,339,660 (GRCm39)	missense	probably benign	0.00
IGL01824:Scnn1g	APN	7	121,365,516 (GRCm39)	missense	probably benign	0.00
IGL02133:Scnn1g	APN	7	121,342,922 (GRCm39)	missense	probably damaging	1.00
IGL02529:Scnn1g	APN	7	121,341,669 (GRCm39)	splice site	probably benign
IGL02814:Scnn1g	APN	7	121,339,588 (GRCm39)	missense	probably damaging	1.00
IGL03091:Scnn1g	APN	7	121,345,906 (GRCm39)	missense	probably damaging	1.00
IGL03253:Scnn1g	APN	7	121,337,156 (GRCm39)	nonsense	probably null
PIT4504001:Scnn1g	UTSW	7	121,341,554 (GRCm39)	missense	probably benign	0.30
R0230:Scnn1g	UTSW	7	121,345,984 (GRCm39)	splice site	probably benign
R0324:Scnn1g	UTSW	7	121,339,778 (GRCm39)	missense	possibly damaging	0.62
R0534:Scnn1g	UTSW	7	121,366,647 (GRCm39)	missense	probably benign	0.00
R1747:Scnn1g	UTSW	7	121,359,686 (GRCm39)	missense	probably damaging	0.99
R2004:Scnn1g	UTSW	7	121,337,411 (GRCm39)	nonsense	probably null
R2197:Scnn1g	UTSW	7	121,366,519 (GRCm39)	missense	probably damaging	1.00
R4396:Scnn1g	UTSW	7	121,339,650 (GRCm39)	missense	probably benign	0.01
R4804:Scnn1g	UTSW	7	121,362,303 (GRCm39)	frame shift	probably null
R4805:Scnn1g	UTSW	7	121,345,825 (GRCm39)	missense	probably damaging	1.00
R5219:Scnn1g	UTSW	7	121,365,489 (GRCm39)	missense	probably damaging	1.00
R5757:Scnn1g	UTSW	7	121,337,438 (GRCm39)	missense	probably damaging	1.00
R5882:Scnn1g	UTSW	7	121,366,581 (GRCm39)	missense	possibly damaging	0.79
R5910:Scnn1g	UTSW	7	121,337,318 (GRCm39)	missense	probably damaging	0.99
R6381:Scnn1g	UTSW	7	121,366,722 (GRCm39)	missense	probably benign	0.00
R6666:Scnn1g	UTSW	7	121,366,611 (GRCm39)	missense	probably benign	0.00
R6735:Scnn1g	UTSW	7	121,341,486 (GRCm39)	missense	probably benign	0.02
R6813:Scnn1g	UTSW	7	121,339,576 (GRCm39)	missense	probably damaging	1.00
R6860:Scnn1g	UTSW	7	121,339,576 (GRCm39)	missense	probably damaging	1.00
R6887:Scnn1g	UTSW	7	121,359,667 (GRCm39)	missense	probably benign	0.01
R7289:Scnn1g	UTSW	7	121,337,304 (GRCm39)	nonsense	probably null
R7488:Scnn1g	UTSW	7	121,362,657 (GRCm39)	missense	probably benign	0.00
R7630:Scnn1g	UTSW	7	121,359,704 (GRCm39)	missense	probably damaging	1.00
R7888:Scnn1g	UTSW	7	121,342,878 (GRCm39)	missense	probably damaging	0.97
R7917:Scnn1g	UTSW	7	121,342,916 (GRCm39)	missense	probably damaging	1.00
R9051:Scnn1g	UTSW	7	121,341,566 (GRCm39)	missense	possibly damaging	0.86
R9312:Scnn1g	UTSW	7	121,339,818 (GRCm39)	missense	probably benign	0.00
Z1177:Scnn1g	UTSW	7	121,359,698 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTACTCTTAGCCAGCACCGTGAC -3'
(R):5'- GCTGCACCTCCTTAGAGATCATTCC -3'

Sequencing Primer
(F):5'- GTGTGAACCACTACTTTGAACTCG -3'
(R):5'- TTCCAAACAGAATGTGGTCCTC -3'

Posted On

2013-04-24