Incidental Mutation 'R0534:Scnn1g'
| ID |
49368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scnn1g
|
| Ensembl Gene |
ENSMUSG00000000216 |
| Gene Name |
sodium channel, nonvoltage-gated 1 gamma |
| Synonyms |
ENaC gamma |
| MMRRC Submission |
038726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.508)
|
| Stock # |
R0534 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121333702-121367698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121366647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 615
(M615V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000221]
|
| AlphaFold |
Q9WU39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000221
AA Change: M615V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000221
Gene: ENSMUSG00000000216
AA Change: M615V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
32 |
558 |
6.4e-91 |
PFAM |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
| Ccdc110 |
T |
C |
8: 46,388,175 (GRCm39) |
V44A |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,962 (GRCm39) |
P280S |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
| Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
| E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
| Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,669,823 (GRCm39) |
C340* |
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,315,476 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
| Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
| Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
| Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
| Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
| Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,996,246 (GRCm39) |
L139F |
probably damaging |
Het |
| P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
| Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
| Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
possibly damaging |
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 |
|
IGL03253:Scnn1g
|
APN |
7 |
121,337,156 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCCTTGCAGATTGAGATGCTCC -3'
(R):5'- CCTGTTCACAGCAGGCTGTTAGAC -3'
Sequencing Primer
(F):5'- CAGATTGAGATGCTCCTGTCTAAC -3'
(R):5'- CAGCAGGCTGTTAGACATGTATC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation