Incidental Mutation 'IGL02480:Gucy1a1'
ID |
295169 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gucy1a1
|
Ensembl Gene |
ENSMUSG00000033910 |
Gene Name |
guanylate cyclase 1, soluble, alpha 1 |
Synonyms |
1200016O07Rik, alpha 1 sGC, sGC-alpha1, Gucy1a3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL02480
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82005040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 582
(V582M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
AlphaFold |
Q9ERL9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048976
AA Change: V582M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048918 Gene: ENSMUSG00000033910 AA Change: V582M
Domain | Start | End | E-Value | Type |
Pfam:HNOB
|
85 |
235 |
2.5e-8 |
PFAM |
PDB:4GJ4|D
|
277 |
403 |
1e-18 |
PDB |
CYCc
|
445 |
636 |
4.71e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192289
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193924
AA Change: V582M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142138 Gene: ENSMUSG00000033910 AA Change: V582M
Domain | Start | End | E-Value | Type |
Pfam:HNOB
|
73 |
237 |
1.6e-7 |
PFAM |
PDB:4GJ4|D
|
277 |
403 |
1e-18 |
PDB |
CYCc
|
445 |
636 |
4.71e-103 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a null mutation display mild elevation of systolic blood pressure, and abnormal blood vessel and platelet responses to NO. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably damaging |
Het |
|
Other mutations in Gucy1a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00951:Gucy1a1
|
APN |
3 |
82,018,498 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01626:Gucy1a1
|
APN |
3 |
82,015,926 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01662:Gucy1a1
|
APN |
3 |
82,016,560 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02902:Gucy1a1
|
APN |
3 |
82,026,224 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03022:Gucy1a1
|
APN |
3 |
82,016,404 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03056:Gucy1a1
|
APN |
3 |
82,020,594 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03089:Gucy1a1
|
APN |
3 |
82,004,988 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03226:Gucy1a1
|
APN |
3 |
82,026,331 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03377:Gucy1a1
|
APN |
3 |
82,013,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0245:Gucy1a1
|
UTSW |
3 |
82,016,094 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0762:Gucy1a1
|
UTSW |
3 |
82,002,203 (GRCm39) |
missense |
unknown |
|
R0907:Gucy1a1
|
UTSW |
3 |
82,018,498 (GRCm39) |
missense |
probably benign |
0.00 |
R1242:Gucy1a1
|
UTSW |
3 |
82,013,260 (GRCm39) |
splice site |
probably null |
|
R1625:Gucy1a1
|
UTSW |
3 |
82,009,362 (GRCm39) |
missense |
probably benign |
0.02 |
R1671:Gucy1a1
|
UTSW |
3 |
82,013,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Gucy1a1
|
UTSW |
3 |
82,016,592 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2094:Gucy1a1
|
UTSW |
3 |
82,020,639 (GRCm39) |
missense |
probably benign |
|
R2140:Gucy1a1
|
UTSW |
3 |
82,026,193 (GRCm39) |
splice site |
probably null |
|
R2154:Gucy1a1
|
UTSW |
3 |
82,018,458 (GRCm39) |
critical splice donor site |
probably null |
|
R3418:Gucy1a1
|
UTSW |
3 |
82,013,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R3419:Gucy1a1
|
UTSW |
3 |
82,013,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Gucy1a1
|
UTSW |
3 |
82,002,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4291:Gucy1a1
|
UTSW |
3 |
82,002,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4292:Gucy1a1
|
UTSW |
3 |
82,002,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4294:Gucy1a1
|
UTSW |
3 |
82,002,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4573:Gucy1a1
|
UTSW |
3 |
82,016,229 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4629:Gucy1a1
|
UTSW |
3 |
82,004,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Gucy1a1
|
UTSW |
3 |
82,002,102 (GRCm39) |
missense |
probably benign |
0.40 |
R4865:Gucy1a1
|
UTSW |
3 |
82,026,469 (GRCm39) |
utr 5 prime |
probably benign |
|
R5528:Gucy1a1
|
UTSW |
3 |
82,016,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Gucy1a1
|
UTSW |
3 |
82,002,114 (GRCm39) |
missense |
probably damaging |
0.96 |
R6278:Gucy1a1
|
UTSW |
3 |
82,004,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Gucy1a1
|
UTSW |
3 |
82,016,313 (GRCm39) |
missense |
probably benign |
|
R7011:Gucy1a1
|
UTSW |
3 |
82,016,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7361:Gucy1a1
|
UTSW |
3 |
82,005,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R7648:Gucy1a1
|
UTSW |
3 |
82,016,014 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7709:Gucy1a1
|
UTSW |
3 |
82,002,096 (GRCm39) |
missense |
unknown |
|
R7770:Gucy1a1
|
UTSW |
3 |
82,016,112 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8443:Gucy1a1
|
UTSW |
3 |
82,005,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Gucy1a1
|
UTSW |
3 |
82,018,468 (GRCm39) |
missense |
probably benign |
|
R8872:Gucy1a1
|
UTSW |
3 |
82,016,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R9055:Gucy1a1
|
UTSW |
3 |
82,016,433 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9168:Gucy1a1
|
UTSW |
3 |
82,009,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R9231:Gucy1a1
|
UTSW |
3 |
82,013,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Gucy1a1
|
UTSW |
3 |
82,016,250 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Posted On |
2015-04-16 |