Mutagenetix > Incidental Mutation

Incidental Mutation 'R5219:Scnn1g'

402221

Institutional Source

Beutler Lab

Gene Symbol

Scnn1g

Ensembl Gene

ENSMUSG00000000216

Gene Name

sodium channel, nonvoltage-gated 1 gamma

Synonyms

ENaC gamma

MMRRC Submission

042792-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121333702-121367698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121365489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 514 (Y514N)

Ref Sequence

ENSEMBL: ENSMUSP00000000221 (fasta)

Gene Model

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

AlphaFold

Q9WU39

Predicted Effect

probably damaging
Transcript: ENSMUST00000000221
AA Change: Y514N

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

SMART Domains

Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: Y514N

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

Meta Mutation Damage Score

0.9338

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,369,299 (GRCm39)		noncoding transcript	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
A2m	A	G	6: 121,653,909 (GRCm39)	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,470,518 (GRCm39)	D154E	possibly damaging	Het
Adam34	C	T	8: 44,104,461 (GRCm39)	D395N	probably benign	Het
Agl	A	G	3: 116,572,370 (GRCm39)	V195A	possibly damaging	Het
Aip	T	C	19: 4,165,180 (GRCm39)	I230V	probably benign	Het
Akap10	A	C	11: 61,813,617 (GRCm39)	S43A	probably benign	Het
Ap3d1	T	C	10: 80,545,651 (GRCm39)	E1026G	probably benign	Het
Arid5b	T	A	10: 68,113,940 (GRCm39)	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,790,249 (GRCm39)	N477K	probably damaging	Het
Atr	A	C	9: 95,763,291 (GRCm39)	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,743,278 (GRCm39)	V171A	probably damaging	Het
Cnot2	A	G	10: 116,342,215 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,526,366 (GRCm39)	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,490,675 (GRCm39)	L715P	probably damaging	Het
Dcxr	T	C	11: 120,616,314 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,919,627 (GRCm39)	A585T	probably benign	Het
Elapor2	G	T	5: 9,511,486 (GRCm39)	W949C	probably damaging	Het
Fcgbp	G	A	7: 27,803,510 (GRCm39)	A1705T	probably damaging	Het
Galr1	A	T	18: 82,412,110 (GRCm39)	V252D	probably damaging	Het
Gm11677	A	G	11: 111,616,225 (GRCm39)		noncoding transcript	Het
Gp6	A	G	7: 4,371,998 (GRCm39)	V252A	possibly damaging	Het
Inpp4b	T	C	8: 82,610,785 (GRCm39)	V176A	probably benign	Het
Irx2	G	C	13: 72,779,420 (GRCm39)	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lars1	A	T	18: 42,367,785 (GRCm39)	V431E	probably benign	Het
Lmntd2	T	C	7: 140,791,387 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,026,746 (GRCm39)	W500R	probably benign	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Nadk	A	G	4: 155,668,711 (GRCm39)	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765 (GRCm39)	Y245*	probably null	Het
Or4a73	C	T	2: 89,421,046 (GRCm39)	V138I	probably benign	Het
Or7s1a-ps1	T	C	9: 18,843,990 (GRCm39)		probably benign	Het
Or8g34	G	T	9: 39,373,563 (GRCm39)	V276L	probably benign	Het
Or9k7	T	A	10: 130,046,793 (GRCm39)	T69S	possibly damaging	Het
Orc1	T	C	4: 108,447,966 (GRCm39)	F71S	probably damaging	Het
Pccb	A	T	9: 100,867,262 (GRCm39)	Y404*	probably null	Het
Pde2a	A	C	7: 101,153,811 (GRCm39)	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,578,263 (GRCm39)	C162*	probably null	Het
Prickle2	T	C	6: 92,353,511 (GRCm39)	S652G	probably benign	Het
Prss38	A	G	11: 59,266,309 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,821,813 (GRCm39)		probably benign	Het
Rgp1	C	T	4: 43,579,440 (GRCm39)	A16V	probably damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sephs1	A	G	2: 4,896,501 (GRCm39)	D134G	probably benign	Het
Slc38a3	A	G	9: 107,529,111 (GRCm39)		probably benign	Het
Slc6a1	A	T	6: 114,287,182 (GRCm39)	M388L	probably benign	Het
Ssbp3	A	T	4: 106,904,655 (GRCm39)	N350I	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Sult1e1	A	T	5: 87,726,445 (GRCm39)	I223N	probably damaging	Het
Tcf20	C	A	15: 82,740,582 (GRCm39)	G290C	probably damaging	Het
Tekt2	G	T	4: 126,216,057 (GRCm39)	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,460,007 (GRCm39)	T382A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,204,543 (GRCm39)	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,741,069 (GRCm39)	R233S	probably damaging	Het
Vmn1r86	A	G	7: 12,836,382 (GRCm39)	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,183,355 (GRCm39)	C152G	probably benign	Het
Zfp804b	A	T	5: 6,820,703 (GRCm39)	F751I	probably benign	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
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
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'- CAGGTTCTAAAAGTCTGTGGAAGTTC -3'
(R):5'- CCAATTGGTCTCAGCCACAG -3'

Sequencing Primer
(F):5'- TCTGTGGAAGTTCAGAACACAGGTC -3'
(R):5'- CCTCTCTGAGGCCTGATTGG -3'

Posted On

2016-07-22