Incidental Mutation 'IGL03253:Scnn1g'
| ID |
414601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scnn1g
|
| Ensembl Gene |
ENSMUSG00000000216 |
| Gene Name |
sodium channel, nonvoltage-gated 1 gamma |
| Synonyms |
ENaC gamma |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
IGL03253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121333702-121367698 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 121337156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 6
(K6*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000221]
|
| AlphaFold |
Q9WU39 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000221
AA Change: K6*
|
| SMART Domains |
Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: K6*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
32 |
558 |
6.4e-91 |
PFAM |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,187,657 (GRCm39) |
V98I |
probably benign |
Het |
| Aadacl4 |
G |
T |
4: 144,349,858 (GRCm39) |
V372L |
probably benign |
Het |
| Acp5 |
A |
T |
9: 22,039,083 (GRCm39) |
I210N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,891,981 (GRCm39) |
A1287T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,214,002 (GRCm39) |
C72S |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,978,068 (GRCm39) |
Q800* |
probably null |
Het |
| Cd47 |
A |
T |
16: 49,714,561 (GRCm39) |
H190L |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,777,324 (GRCm39) |
H849L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,778 (GRCm39) |
Q2437* |
probably null |
Het |
| Depdc5 |
T |
C |
5: 33,026,157 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,208,750 (GRCm39) |
I237F |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,839,271 (GRCm39) |
W8* |
probably null |
Het |
| Gucy2d |
C |
T |
7: 98,100,871 (GRCm39) |
A398V |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,871,875 (GRCm39) |
E1357G |
possibly damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,579,468 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
A |
C |
14: 30,633,880 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
A |
G |
14: 20,192,405 (GRCm39) |
V252A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,415,198 (GRCm39) |
E771G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,078 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,510,408 (GRCm39) |
E567G |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,143 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,393 (GRCm39) |
D548G |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,556 (GRCm39) |
|
noncoding transcript |
Het |
| Rad54l2 |
A |
G |
9: 106,581,422 (GRCm39) |
V833A |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,209,341 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,053,434 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
A |
11: 43,629,650 (GRCm39) |
E172V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,364 (GRCm39) |
V19215A |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,092 (GRCm39) |
I461V |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,547,694 (GRCm39) |
M110T |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,261,770 (GRCm39) |
D111V |
probably damaging |
Het |
| Zscan4f |
T |
A |
7: 11,135,270 (GRCm39) |
N225K |
probably benign |
Het |
|
| Other mutations in Scnn1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Scnn1g
|
APN |
7 |
121,339,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01824:Scnn1g
|
APN |
7 |
121,365,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02133:Scnn1g
|
APN |
7 |
121,342,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02529:Scnn1g
|
APN |
7 |
121,341,669 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Scnn1g
|
APN |
7 |
121,339,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Scnn1g
|
APN |
7 |
121,345,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Scnn1g
|
UTSW |
7 |
121,341,554 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0230:Scnn1g
|
UTSW |
7 |
121,345,984 (GRCm39) |
splice site |
probably benign |
|
|
R0324:Scnn1g
|
UTSW |
7 |
121,339,778 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0367:Scnn1g
|
UTSW |
7 |
121,345,802 (GRCm39) |
splice site |
probably benign |
|
|
R0534:Scnn1g
|
UTSW |
7 |
121,366,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1747:Scnn1g
|
UTSW |
7 |
121,359,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2004:Scnn1g
|
UTSW |
7 |
121,337,411 (GRCm39) |
nonsense |
probably null |
|
|
R2197:Scnn1g
|
UTSW |
7 |
121,366,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Scnn1g
|
UTSW |
7 |
121,339,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4804:Scnn1g
|
UTSW |
7 |
121,362,303 (GRCm39) |
frame shift |
probably null |
|
|
R4805:Scnn1g
|
UTSW |
7 |
121,345,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Scnn1g
|
UTSW |
7 |
121,365,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Scnn1g
|
UTSW |
7 |
121,337,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Scnn1g
|
UTSW |
7 |
121,366,581 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5910:Scnn1g
|
UTSW |
7 |
121,337,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6381:Scnn1g
|
UTSW |
7 |
121,366,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6666:Scnn1g
|
UTSW |
7 |
121,366,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Scnn1g
|
UTSW |
7 |
121,341,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6813:Scnn1g
|
UTSW |
7 |
121,339,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Scnn1g
|
UTSW |
7 |
121,339,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Scnn1g
|
UTSW |
7 |
121,359,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Scnn1g
|
UTSW |
7 |
121,337,304 (GRCm39) |
nonsense |
probably null |
|
|
R7488:Scnn1g
|
UTSW |
7 |
121,362,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7630:Scnn1g
|
UTSW |
7 |
121,359,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Scnn1g
|
UTSW |
7 |
121,342,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7917:Scnn1g
|
UTSW |
7 |
121,342,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Scnn1g
|
UTSW |
7 |
121,341,566 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9312:Scnn1g
|
UTSW |
7 |
121,339,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Scnn1g
|
UTSW |
7 |
121,359,698 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation