Incidental Mutation 'R6812:Scnn1a'
| ID |
533840 |
| 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 |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125297622-125321906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125314819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 314
(N314S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081440]
[ENSMUST00000175966]
[ENSMUST00000176110]
[ENSMUST00000176442]
[ENSMUST00000176655]
[ENSMUST00000177329]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081440
AA Change: N340S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080164
Gene: ENSMUSG00000030340
AA Change: N340S
| 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 |
silent
Transcript: ENSMUST00000175966
|
| SMART Domains |
Protein: ENSMUSP00000135551
Gene: ENSMUSG00000030340
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
62 |
264 |
3.5e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176110
AA Change: N314S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134940
Gene: ENSMUSG00000030340
AA Change: N314S
| 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: N233S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135336
Gene: ENSMUSG00000030340
AA Change: N233S
| 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: N233S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135798
Gene: ENSMUSG00000030340
AA Change: N233S
| 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 benign
Transcript: ENSMUST00000177329
AA Change: N314S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134929
Gene: ENSMUSG00000030340
AA Change: N314S
| 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 |
0.0915 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
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 |
|
R4928:Scnn1a
|
UTSW |
6 |
125,299,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Scnn1a
|
UTSW |
6 |
125,319,985 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- AGGTCTACTTCCCAGTGCTG -3'
(R):5'- GACCTTTCCAGAATGGCGAGAG -3'
Sequencing Primer
(F):5'- TACTTCCCAGTGCTGTGCAGG -3'
(R):5'- GGCATATCAAGGTGAGACCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation