Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Scnn1a'

380992

Institutional Source

Beutler Lab

Gene Symbol

Scnn1a

Ensembl Gene

ENSMUSG00000030340

Gene Name

sodium channel, nonvoltage-gated 1 alpha

Synonyms

Scnn1, mENaC, ENaC alpha

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125297622-125321906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125299136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 72 (I72T)

Ref Sequence

ENSEMBL: ENSMUSP00000134929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081440] [ENSMUST00000175966] [ENSMUST00000176110] [ENSMUST00000176365] [ENSMUST00000176442] [ENSMUST00000176655] [ENSMUST00000177329]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081440
AA Change: I98T

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

SMART Domains

Protein: ENSMUSP00000080164
Gene: ENSMUSG00000030340
AA Change: I98T

Domain	Start	End	E-Value	Type
low complexity region	13	18	N/A	INTRINSIC
Pfam:ASC	88	600	1.1e-93	PFAM
low complexity region	647	677	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175966
AA Change: I72T

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

SMART Domains

Protein: ENSMUSP00000135551
Gene: ENSMUSG00000030340
AA Change: I72T

Domain	Start	End	E-Value	Type
Pfam:ASC	62	264	3.5e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176110
AA Change: I72T

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

SMART Domains

Protein: ENSMUSP00000134940
Gene: ENSMUSG00000030340
AA Change: I72T

Domain	Start	End	E-Value	Type
Pfam:ASC	62	575	1.9e-112	PFAM
low complexity region	621	651	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176365
AA Change: I56T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135467
Gene: ENSMUSG00000030340
AA Change: I56T

Domain	Start	End	E-Value	Type
Pfam:ASC	46	141	1.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176442

SMART Domains

Protein: ENSMUSP00000135336
Gene: ENSMUSG00000030340

Domain	Start	End	E-Value	Type
Pfam:ASC	1	494	6.3e-105	PFAM
low complexity region	540	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176655

SMART Domains

Protein: ENSMUSP00000135798
Gene: ENSMUSG00000030340

Domain	Start	End	E-Value	Type
Pfam:ASC	1	494	6.4e-105	PFAM
low complexity region	540	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177329
AA Change: I72T

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

SMART Domains

Protein: ENSMUSP00000134929
Gene: ENSMUSG00000030340
AA Change: I72T

Domain	Start	End	E-Value	Type
Pfam:ASC	62	575	1.9e-112	PFAM
low complexity region	621	651	N/A	INTRINSIC

Meta Mutation Damage Score

0.2670

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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 alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 82,805,086 (GRCm39)		noncoding transcript	Het
Aasdh	T	A	5: 77,044,535 (GRCm39)	K118N	possibly damaging	Het
Abca14	A	T	7: 119,923,803 (GRCm39)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,776,641 (GRCm39)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Aifm3	T	C	16: 17,318,296 (GRCm39)		probably benign	Het
Aldh16a1	A	G	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Amer2	A	T	14: 60,616,894 (GRCm39)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 78,152,957 (GRCm39)		probably null	Het
Arhgef6	A	T	X: 56,280,238 (GRCm39)	D742E	probably damaging	Het
Astn2	A	T	4: 65,647,644 (GRCm39)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,105,954 (GRCm39)	T904A	possibly damaging	Het
Atr	C	T	9: 95,789,352 (GRCm39)	R1503W	probably damaging	Het
Cdh3	G	T	8: 107,263,242 (GRCm39)	R97L	probably benign	Het
Chst2	C	T	9: 95,288,059 (GRCm39)	V96I	probably benign	Het
Cit	T	A	5: 116,123,856 (GRCm39)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,658,897 (GRCm39)		probably null	Het
Col4a3	G	A	1: 82,688,698 (GRCm39)		probably benign	Het
Copz1	T	A	15: 103,199,757 (GRCm39)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,646,143 (GRCm39)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 95,990,388 (GRCm39)		probably null	Het
Dctn1	T	A	6: 83,166,189 (GRCm39)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,742,751 (GRCm39)	I148V	probably benign	Het
Dnah17	T	C	11: 117,918,259 (GRCm39)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,110,837 (GRCm39)	N145D	possibly damaging	Het
Ecpas	A	G	4: 58,827,073 (GRCm39)	V1020A	probably damaging	Het
Entrep2	G	T	7: 64,409,116 (GRCm39)	S426*	probably null	Het
Ercc6l2	T	C	13: 64,042,627 (GRCm39)		probably benign	Het
Fads6	T	G	11: 115,187,387 (GRCm39)	I103L	probably benign	Het
Fat4	T	G	3: 39,064,614 (GRCm39)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,457,671 (GRCm39)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,826,655 (GRCm39)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,406,577 (GRCm39)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,006,373 (GRCm39)	S507R	probably benign	Het
Gm15142	T	A	X: 153,421,415 (GRCm39)		noncoding transcript	Het
Gm4787	T	C	12: 81,425,612 (GRCm39)	E182G	probably benign	Het
Gm6811	C	A	17: 21,314,893 (GRCm39)		noncoding transcript	Het
Gm9791	A	T	3: 34,059,218 (GRCm39)		noncoding transcript	Het
Hoxb7	A	T	11: 96,180,336 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,892,819 (GRCm39)		probably benign	Het
Krt28	C	T	11: 99,265,458 (GRCm39)	V70I	probably benign	Het
Lig1	T	C	7: 13,032,664 (GRCm39)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,060,048 (GRCm39)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,088,663 (GRCm39)	V489A	probably benign	Het
Mcm8	C	T	2: 132,681,399 (GRCm39)	P625L	probably benign	Het
Megf10	G	T	18: 57,373,745 (GRCm39)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,745,726 (GRCm39)	G440D	probably benign	Het
Mllt3	T	C	4: 87,700,642 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,371,639 (GRCm39)	Y2613*	probably null	Het
Myh14	C	T	7: 44,284,926 (GRCm39)	G662S	probably benign	Het
Myod1	T	A	7: 46,026,474 (GRCm39)	N126K	probably damaging	Het
Nae1	A	T	8: 105,242,774 (GRCm39)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,135,765 (GRCm39)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 26,983,031 (GRCm39)	C926*	probably null	Het
Ndufv2	C	A	17: 66,399,653 (GRCm39)		probably null	Het
Neb	T	C	2: 52,102,987 (GRCm39)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,685,550 (GRCm39)	E566V	probably null	Het
Oas1a	C	T	5: 121,043,787 (GRCm39)	R115H	probably benign	Het
Or10ag60	C	A	2: 87,438,487 (GRCm39)	L252I	probably benign	Het
Or51b6	A	G	7: 103,555,879 (GRCm39)	T78A	probably damaging	Het
Or5w19	A	G	2: 87,698,574 (GRCm39)	M80V	probably benign	Het
Or8k30	T	A	2: 86,339,469 (GRCm39)	L222H	probably damaging	Het
Pbld2	A	G	10: 62,883,778 (GRCm39)	H142R	probably damaging	Het
Pcdha4	C	T	18: 37,087,869 (GRCm39)	T684M	probably benign	Het
Phc3	G	T	3: 31,005,068 (GRCm39)	T175N	probably damaging	Het
Pigs	G	T	11: 78,219,828 (GRCm39)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,913,528 (GRCm39)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 71,953,998 (GRCm39)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,889,850 (GRCm39)	W374*	probably null	Het
Ptpn14	G	A	1: 189,554,839 (GRCm39)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,336,446 (GRCm39)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,580,862 (GRCm39)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,655,256 (GRCm39)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,699,981 (GRCm39)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,116,570 (GRCm39)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,669,514 (GRCm39)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,671,849 (GRCm39)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,393,167 (GRCm39)		probably benign	Het
Sdk1	A	T	5: 141,842,758 (GRCm39)		probably benign	Het
Sfmbt2	T	C	2: 10,450,556 (GRCm39)	L277P	probably benign	Het
Sgf29	A	G	7: 126,264,154 (GRCm39)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,183,306 (GRCm39)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,640,340 (GRCm39)		probably null	Het
Slc9a3	T	G	13: 74,305,838 (GRCm39)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,395,772 (GRCm39)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,392,882 (GRCm39)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,051,898 (GRCm39)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,026,705 (GRCm39)		probably null	Het
Sod2	C	T	17: 13,227,073 (GRCm39)	T9M	probably benign	Het
Spag5	T	A	11: 78,205,199 (GRCm39)	S633T	probably damaging	Het
Spta1	A	T	1: 174,018,622 (GRCm39)	I531L	probably benign	Het
Stra8	A	G	6: 34,910,091 (GRCm39)	E60G	probably benign	Het
Sult2a3	T	A	7: 13,845,482 (GRCm39)	I126F	probably benign	Het
Syt1	T	C	10: 108,340,373 (GRCm39)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,758,588 (GRCm39)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,899,162 (GRCm39)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,693,989 (GRCm39)	K33*	probably null	Het
Trim17	T	C	11: 58,845,127 (GRCm39)		probably benign	Het
Tsr1	G	A	11: 74,798,705 (GRCm39)	M691I	probably benign	Het
Ttn	T	A	2: 76,592,763 (GRCm39)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,312,168 (GRCm39)	Y208*	probably null	Het
Ubr1	T	A	2: 120,745,419 (GRCm39)	I890F	probably damaging	Het
Usp54	T	C	14: 20,612,260 (GRCm39)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,835 (GRCm39)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,470,475 (GRCm39)	K315E	probably benign	Het
Xrn2	T	C	2: 146,893,638 (GRCm39)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,347,973 (GRCm39)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,604,962 (GRCm39)	C648*	probably null	Het
Zfp369	A	G	13: 65,444,614 (GRCm39)	T586A	possibly damaging	Het

Other mutations in Scnn1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Scnn1a	APN	6	125,315,342 (GRCm39)	missense	probably benign	0.11
IGL01793:Scnn1a	APN	6	125,320,666 (GRCm39)	missense	probably benign	0.03
IGL01992:Scnn1a	APN	6	125,315,900 (GRCm39)	critical splice donor site	probably null
IGL03280:Scnn1a	APN	6	125,319,744 (GRCm39)	splice site	probably benign
scylla	UTSW	6	125,320,208 (GRCm39)	missense	probably damaging	0.98
R0086:Scnn1a	UTSW	6	125,319,550 (GRCm39)	splice site	probably benign
R0442:Scnn1a	UTSW	6	125,316,100 (GRCm39)	missense	probably damaging	1.00
R0454:Scnn1a	UTSW	6	125,299,189 (GRCm39)	missense	probably damaging	1.00
R0578:Scnn1a	UTSW	6	125,299,207 (GRCm39)	missense	probably damaging	0.97
R1538:Scnn1a	UTSW	6	125,315,856 (GRCm39)	missense	possibly damaging	0.48
R1579:Scnn1a	UTSW	6	125,299,103 (GRCm39)	missense	probably damaging	1.00
R1803:Scnn1a	UTSW	6	125,309,157 (GRCm39)	missense	probably damaging	0.98
R1876:Scnn1a	UTSW	6	125,315,801 (GRCm39)	missense	probably benign	0.05
R2113:Scnn1a	UTSW	6	125,314,774 (GRCm39)	missense	possibly damaging	0.60
R2178:Scnn1a	UTSW	6	125,307,965 (GRCm39)	missense	probably damaging	0.96
R2960:Scnn1a	UTSW	6	125,299,256 (GRCm39)	missense	probably damaging	1.00
R4072:Scnn1a	UTSW	6	125,315,870 (GRCm39)	missense	probably damaging	1.00
R4603:Scnn1a	UTSW	6	125,299,123 (GRCm39)	missense	probably damaging	1.00
R5436:Scnn1a	UTSW	6	125,319,985 (GRCm39)	missense	possibly damaging	0.94
R6812:Scnn1a	UTSW	6	125,314,819 (GRCm39)	missense	probably benign	0.09
R7089:Scnn1a	UTSW	6	125,314,770 (GRCm39)	missense	probably benign	0.05
R8371:Scnn1a	UTSW	6	125,320,806 (GRCm39)	missense	possibly damaging	0.83
R8372:Scnn1a	UTSW	6	125,320,681 (GRCm39)	missense	probably damaging	0.96
R8841:Scnn1a	UTSW	6	125,320,208 (GRCm39)	missense	probably damaging	0.98
R9509:Scnn1a	UTSW	6	125,319,604 (GRCm39)	missense	probably damaging	0.99
X0026:Scnn1a	UTSW	6	125,299,073 (GRCm39)	missense	probably damaging	1.00
Z1176:Scnn1a	UTSW	6	125,320,855 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGGAGCAAGACCTTTGTCCTC -3'
(R):5'- GACCTGTAAGGATTAAGGGTGC -3'

Sequencing Primer
(F):5'- GAGCAAGACCTTTGTCCTCCTCTG -3'
(R):5'- TTAAGGGTGCACACAGTGAC -3'

Posted On

2016-04-15