Incidental Mutation 'R4016:Scnn1b'
| ID |
311942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scnn1b
|
| Ensembl Gene |
ENSMUSG00000030873 |
| Gene Name |
sodium channel, nonvoltage-gated 1 beta |
| Synonyms |
ENaC beta |
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121464261-121517737 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 121513555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033161]
[ENSMUST00000205438]
[ENSMUST00000205520]
[ENSMUST00000206079]
|
| AlphaFold |
Q9WU38 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033161
|
| SMART Domains |
Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
29 |
541 |
2.4e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206079
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| 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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
| Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
|
| Other mutations in Scnn1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Scnn1b
|
APN |
7 |
121,517,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01108:Scnn1b
|
APN |
7 |
121,513,555 (GRCm39) |
splice site |
probably null |
|
|
IGL02191:Scnn1b
|
APN |
7 |
121,516,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Scnn1b
|
APN |
7 |
121,502,113 (GRCm39) |
missense |
probably null |
0.89 |
|
IGL02355:Scnn1b
|
APN |
7 |
121,516,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Scnn1b
|
APN |
7 |
121,516,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02554:Scnn1b
|
APN |
7 |
121,516,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02834:Scnn1b
|
APN |
7 |
121,511,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Scnn1b
|
UTSW |
7 |
121,511,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Scnn1b
|
UTSW |
7 |
121,498,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Scnn1b
|
UTSW |
7 |
121,511,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0872:Scnn1b
|
UTSW |
7 |
121,513,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0899:Scnn1b
|
UTSW |
7 |
121,516,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Scnn1b
|
UTSW |
7 |
121,501,711 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1406:Scnn1b
|
UTSW |
7 |
121,501,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1406:Scnn1b
|
UTSW |
7 |
121,501,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1662:Scnn1b
|
UTSW |
7 |
121,501,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1782:Scnn1b
|
UTSW |
7 |
121,517,184 (GRCm39) |
missense |
probably benign |
|
|
R1829:Scnn1b
|
UTSW |
7 |
121,502,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1861:Scnn1b
|
UTSW |
7 |
121,513,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Scnn1b
|
UTSW |
7 |
121,509,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Scnn1b
|
UTSW |
7 |
121,501,962 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4504:Scnn1b
|
UTSW |
7 |
121,511,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Scnn1b
|
UTSW |
7 |
121,501,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4888:Scnn1b
|
UTSW |
7 |
121,502,110 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4941:Scnn1b
|
UTSW |
7 |
121,511,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Scnn1b
|
UTSW |
7 |
121,502,110 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6379:Scnn1b
|
UTSW |
7 |
121,514,551 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6516:Scnn1b
|
UTSW |
7 |
121,511,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Scnn1b
|
UTSW |
7 |
121,502,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6730:Scnn1b
|
UTSW |
7 |
121,502,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Scnn1b
|
UTSW |
7 |
121,517,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8670:Scnn1b
|
UTSW |
7 |
121,498,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8675:Scnn1b
|
UTSW |
7 |
121,498,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Scnn1b
|
UTSW |
7 |
121,502,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Scnn1b
|
UTSW |
7 |
121,502,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9170:Scnn1b
|
UTSW |
7 |
121,511,326 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9204:Scnn1b
|
UTSW |
7 |
121,498,522 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9339:Scnn1b
|
UTSW |
7 |
121,511,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9466:Scnn1b
|
UTSW |
7 |
121,502,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Scnn1b
|
UTSW |
7 |
121,498,462 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
R9709:Scnn1b
|
UTSW |
7 |
121,509,693 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGTAACTTCTCTGGGC -3'
(R):5'- GTACAGGGATGTACATGGCAC -3'
Sequencing Primer
(F):5'- CTCCTTCCTGTTACTGGAGTGG -3'
(R):5'- CAGCTATGTGTCTCAAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation