Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Scnn1g'

430208

Institutional Source

Beutler Lab

Gene Symbol

Scnn1g

Ensembl Gene

ENSMUSG00000000216

Gene Name

sodium channel, nonvoltage-gated 1 gamma

Synonyms

ENaC gamma

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R4804 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

121333702-121367698 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AATCCTGCAGGTGA to AA at 121362303 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 null
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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	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
R0367:Scnn1g	UTSW	7	121,345,802 (GRCm39)	splice site	probably benign
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
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'- GACCCTCAGCATTTGTAAAAGG -3'
(R):5'- GACTAGCTGAGGACACCAAG -3'

Sequencing Primer
(F):5'- CCCTCAGCATTTGTAAAAGGTGTAC -3'
(R):5'- TGAGGACACCAAGGGCTC -3'

Posted On

2016-09-16