Incidental Mutation 'IGL02191:Scnn1b'
| ID |
283869 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scnn1b
|
| Ensembl Gene |
ENSMUSG00000030873 |
| Gene Name |
sodium channel, nonvoltage-gated 1 beta |
| Synonyms |
ENaC beta |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121464261-121517737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121516736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 492
(K492Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033161]
[ENSMUST00000205438]
[ENSMUST00000205520]
|
| AlphaFold |
Q9WU38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033161
AA Change: K492Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: K492Q
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
| C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
| Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
| Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
| Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
| Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
| Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
| Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
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 |
|
|
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 |
|
R4016:Scnn1b
|
UTSW |
7 |
121,513,555 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation