Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Scnn1g'

360743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scnn1g

Ensembl Gene

ENSMUSG00000000216

Gene Name

sodium channel, nonvoltage-gated 1 gamma

Synonyms

ENaC gamma

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

121333702-121367698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121339588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 129 (Y129C)

Ref Sequence

ENSEMBL: ENSMUSP00000000221 (fasta)

Gene Model

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

AlphaFold

Q9WU39

Predicted Effect

probably damaging
Transcript: ENSMUST00000000221
AA Change: Y129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: Y129C

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

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gjb5	C	T	4: 127,249,355 (GRCm39)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,021,033 (GRCm39)	S130P	probably damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Myl3	G	T	9: 110,597,059 (GRCm39)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or13a26	T	C	7: 140,285,046 (GRCm39)	L294P	probably damaging	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly 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
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
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

Posted On

2015-12-18