Mutagenetix > Incidental Mutation

Incidental Mutation 'R5436:Scnn1a'

484552

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

043001-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125297622-125321906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125319985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 528 (D528V)

Ref Sequence

ENSEMBL: ENSMUSP00000080164 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081440
AA Change: D528V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080164
Gene: ENSMUSG00000030340
AA Change: D528V

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 benign
Transcript: ENSMUST00000175966

SMART Domains

Protein: ENSMUSP00000135551
Gene: ENSMUSG00000030340

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176110
AA Change: D502V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134940
Gene: ENSMUSG00000030340
AA Change: D502V

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 benign
Transcript: ENSMUST00000176442
AA Change: D421V

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135336
Gene: ENSMUSG00000030340
AA Change: D421V

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
AA Change: D421V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135798
Gene: ENSMUSG00000030340
AA Change: D421V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177329
AA Change: D502V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134929
Gene: ENSMUSG00000030340
AA Change: D502V

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (106/107)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	C	3: 59,754,114 (GRCm39)		noncoding transcript	Het
Abca9	G	A	11: 110,025,062 (GRCm39)	L994F	probably damaging	Het
Abl2	A	T	1: 156,457,450 (GRCm39)	S239C	probably damaging	Het
Acsl5	T	A	19: 55,267,997 (GRCm39)		probably null	Het
Aff1	C	T	5: 103,931,736 (GRCm39)	T126I	probably damaging	Het
Amtn	T	C	5: 88,529,485 (GRCm39)	L107P	probably damaging	Het
Ankrd45	A	G	1: 160,986,682 (GRCm39)		probably benign	Het
Arl6ip5	G	A	6: 97,187,887 (GRCm39)	V36I	probably damaging	Het
Ascc3	T	A	10: 50,535,079 (GRCm39)	D657E	probably damaging	Het
Ascl1	T	A	10: 87,328,808 (GRCm39)	Q48L	unknown	Het
Asic4	T	A	1: 75,427,963 (GRCm39)	V163E	probably benign	Het
Atm	A	T	9: 53,371,104 (GRCm39)	M2245K	probably benign	Het
Barx2	T	G	9: 31,824,285 (GRCm39)	T35P	probably damaging	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
C8b	T	A	4: 104,657,546 (GRCm39)	Y404*	probably null	Het
Car5a	A	G	8: 122,643,981 (GRCm39)		probably benign	Het
Ccdc13	T	C	9: 121,628,109 (GRCm39)	I169M	probably benign	Het
Cd163	A	T	6: 124,304,923 (GRCm39)	D1100V	probably benign	Het
Cimap2	A	T	4: 106,467,690 (GRCm39)	H315Q	probably benign	Het
Cntfr	T	C	4: 41,663,322 (GRCm39)	N162D	probably damaging	Het
Cops3	T	G	11: 59,715,171 (GRCm39)	D289A	probably damaging	Het
Crbn	A	T	6: 106,772,861 (GRCm39)	S42R	probably damaging	Het
Cth	T	A	3: 157,600,463 (GRCm39)	H397L	probably benign	Het
Dact2	A	G	17: 14,416,010 (GRCm39)	L730P	probably damaging	Het
Dhx37	C	T	5: 125,506,867 (GRCm39)	G210R	probably benign	Het
Dnaaf9	C	A	2: 130,606,419 (GRCm39)	K415N	probably benign	Het
Dnah1	T	C	14: 31,038,704 (GRCm39)	I126V	probably benign	Het
Dnttip2	T	C	3: 122,072,418 (GRCm39)	I566T	probably damaging	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam110b	A	C	4: 5,799,104 (GRCm39)	Q174P	probably benign	Het
Fam149a	A	T	8: 45,801,508 (GRCm39)	S457T	probably benign	Het
Fat3	A	C	9: 15,871,810 (GRCm39)	V3527G	probably benign	Het
Fat4	A	G	3: 38,945,495 (GRCm39)	M1463V	probably benign	Het
Gak	T	A	5: 108,740,218 (GRCm39)	I566F	possibly damaging	Het
Gdf10	T	A	14: 33,654,213 (GRCm39)	I240N	probably damaging	Het
Gprc6a	T	A	10: 51,502,798 (GRCm39)	H355L	probably benign	Het
Gxylt1	T	C	15: 93,145,780 (GRCm39)	K338R	probably damaging	Het
Hexim2	A	T	11: 103,029,095 (GRCm39)	E49V	probably null	Het
Hfm1	T	C	5: 107,040,638 (GRCm39)	D709G	possibly damaging	Het
Ighv1-49	T	C	12: 115,019,081 (GRCm39)	K19R	probably damaging	Het
Il17a	T	A	1: 20,803,870 (GRCm39)	Y88*	probably null	Het
Iqsec1	A	T	6: 90,822,343 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,007 (GRCm39)	D582G	probably benign	Het
Klc3	T	C	7: 19,131,884 (GRCm39)		probably null	Het
Larp4	T	A	15: 99,883,995 (GRCm39)	N78K	probably damaging	Het
Larp4b	A	G	13: 9,218,936 (GRCm39)	D526G	possibly damaging	Het
Limch1	T	C	5: 67,131,909 (GRCm39)	V133A	possibly damaging	Het
Lmbr1l	G	A	15: 98,802,672 (GRCm39)	R426C	probably damaging	Het
Lox	T	A	18: 52,662,175 (GRCm39)	D76V	probably benign	Het
Lrrc8d	T	A	5: 105,960,418 (GRCm39)	I276N	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Marchf10	A	T	11: 105,292,991 (GRCm39)	Y139N	possibly damaging	Het
Mrc1	T	G	2: 14,271,326 (GRCm39)	I410S	probably damaging	Het
Mrto4	A	T	4: 139,075,276 (GRCm39)	C176S	probably damaging	Het
Mtch1	G	T	17: 29,566,564 (GRCm39)	D66E	probably benign	Het
Nbas	T	G	12: 13,424,812 (GRCm39)	L1017R	probably damaging	Het
Nherf4	A	G	9: 44,159,652 (GRCm39)	V448A	possibly damaging	Het
Nim1k	A	G	13: 120,189,065 (GRCm39)		probably benign	Het
Nlrp6	T	A	7: 140,502,630 (GRCm39)	Y245*	probably null	Het
Or11g7	T	G	14: 50,691,184 (GRCm39)	V225G	probably damaging	Het
Or2t43	T	A	11: 58,457,763 (GRCm39)	H136L	probably benign	Het
Or4c3	T	A	2: 89,852,009 (GRCm39)	M134L	probably benign	Het
Or51q1	A	T	7: 103,628,473 (GRCm39)	I25F	probably benign	Het
Or5h24	C	T	16: 58,919,182 (GRCm39)	V58I	unknown	Het
Or8b1	A	C	9: 38,399,835 (GRCm39)	D170A	probably benign	Het
Pcare	A	T	17: 72,057,837 (GRCm39)	S613R	probably damaging	Het
Pcnx1	G	T	12: 81,907,180 (GRCm39)	G12V	probably damaging	Het
Pkp1	T	A	1: 135,846,656 (GRCm39)	K32M	probably damaging	Het
Poc5	T	C	13: 96,533,321 (GRCm39)	W150R	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,253 (GRCm39)		probably benign	Het
Prune2	T	A	19: 16,998,007 (GRCm39)	M248K	probably damaging	Het
Rb1	A	T	14: 73,450,580 (GRCm39)		probably null	Het
Rhod	A	G	19: 4,476,615 (GRCm39)	C169R	probably benign	Het
Rif1	T	C	2: 52,010,983 (GRCm39)		probably benign	Het
Rnpc3	G	A	3: 113,418,648 (GRCm39)	A100V	probably damaging	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Sdhaf3	C	A	6: 7,038,855 (GRCm39)	T59K	probably benign	Het
Sec31a	C	A	5: 100,511,698 (GRCm39)	A330S	probably damaging	Het
Sgk3	A	G	1: 9,952,097 (GRCm39)	D241G	probably damaging	Het
Skint6	T	G	4: 112,953,788 (GRCm39)	I459L	probably benign	Het
Slco1a5	A	T	6: 142,200,118 (GRCm39)	V222E	probably damaging	Het
Slit3	T	A	11: 35,598,738 (GRCm39)	N1447K	probably benign	Het
Sorbs2	A	G	8: 46,249,038 (GRCm39)	H628R	probably damaging	Het
St6galnac2	A	G	11: 116,575,353 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,816,267 (GRCm39)	V667A	probably benign	Het
Tbx20	A	T	9: 24,681,016 (GRCm39)	Y159N	probably damaging	Het
Tmprss11b	T	A	5: 86,810,092 (GRCm39)	Q296L	probably benign	Het
Ttc6	T	A	12: 57,721,380 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,701,243 (GRCm39)		probably benign	Het
Tubgcp4	T	A	2: 121,018,617 (GRCm39)	L340H	probably damaging	Het
Tubgcp4	T	A	2: 121,024,663 (GRCm39)	F613I	probably benign	Het
Urb1	T	C	16: 90,589,650 (GRCm39)	Y377C	probably damaging	Het
Utp15	G	A	13: 98,397,354 (GRCm39)		probably null	Het
Vstm2b	A	G	7: 40,550,707 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,190,627 (GRCm39)	V488D	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp276	A	T	8: 123,992,021 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,723,975 (GRCm39)	S1993T	possibly damaging	Het
Zfp959	T	C	17: 56,204,626 (GRCm39)	L218P	probably benign	Het
Zxdc	A	G	6: 90,347,542 (GRCm39)	D301G	probably 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
R4928:Scnn1a	UTSW	6	125,299,136 (GRCm39)	missense	probably damaging	1.00
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'- GAAGTCCCAGGTAAAGTCGG -3'
(R):5'- TAGCAACTCCGTTTCTTGGG -3'

Sequencing Primer
(F):5'- TCCCAGGTAAAGTCGGGAGGG -3'
(R):5'- CAACTCCGTTTCTTGGGGAAGG -3'

Posted On

2017-08-11