Incidental Mutation 'R0762:Gucy1a1'
ID |
474141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy1a1
|
Ensembl Gene |
ENSMUSG00000033910 |
Gene Name |
guanylate cyclase 1, soluble, alpha 1 |
Synonyms |
1200016O07Rik, alpha 1 sGC, sGC-alpha1, Gucy1a3 |
MMRRC Submission |
038942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R0762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82002203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 44
(T44A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
AlphaFold |
Q9ERL9 |
Predicted Effect |
silent
Transcript: ENSMUST00000048976
|
SMART Domains |
Protein: ENSMUSP00000048918 Gene: ENSMUSG00000033910
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 |
unknown
Transcript: ENSMUST00000192289
AA Change: T44A
|
Predicted Effect |
silent
Transcript: ENSMUST00000193924
|
SMART Domains |
Protein: ENSMUSP00000142138 Gene: ENSMUSG00000033910
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 93.9%
|
Validation Efficiency |
100% (61/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,482,667 (GRCm39) |
N475I |
probably damaging |
Het |
Adar |
T |
C |
3: 89,647,290 (GRCm39) |
|
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,015,747 (GRCm39) |
|
probably null |
Het |
Amtn |
C |
T |
5: 88,532,859 (GRCm39) |
T158I |
possibly damaging |
Het |
Ap1g2 |
A |
G |
14: 55,337,868 (GRCm39) |
|
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,119,584 (GRCm39) |
Y318C |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,641,229 (GRCm39) |
V69G |
possibly damaging |
Het |
Bbx |
G |
A |
16: 50,045,529 (GRCm39) |
T236I |
possibly damaging |
Het |
Bcl11b |
C |
T |
12: 107,931,922 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,889,377 (GRCm39) |
I794V |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,413,112 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
C |
A |
12: 33,110,300 (GRCm39) |
R328L |
probably benign |
Het |
Ces2e |
T |
A |
8: 105,656,496 (GRCm39) |
M242K |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,588,656 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,686 (GRCm39) |
S39P |
unknown |
Het |
Cplane1 |
A |
G |
15: 8,247,900 (GRCm39) |
|
probably benign |
Het |
Cyp2a5 |
T |
A |
7: 26,538,298 (GRCm39) |
Y220* |
probably null |
Het |
Dcc |
T |
A |
18: 71,475,776 (GRCm39) |
|
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,036 (GRCm39) |
T191A |
probably damaging |
Het |
Ephx2 |
A |
T |
14: 66,339,628 (GRCm39) |
F199I |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,551,619 (GRCm39) |
K1062E |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,251,285 (GRCm39) |
V410A |
probably benign |
Het |
Gars1 |
T |
G |
6: 55,054,565 (GRCm39) |
|
probably null |
Het |
Git1 |
A |
C |
11: 77,390,660 (GRCm39) |
D132A |
possibly damaging |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Ifnlr1 |
A |
G |
4: 135,428,640 (GRCm39) |
K156E |
possibly damaging |
Het |
Klf13 |
T |
C |
7: 63,541,371 (GRCm39) |
N15S |
probably benign |
Het |
Krt77 |
T |
C |
15: 101,769,561 (GRCm39) |
|
probably null |
Het |
Ldc1 |
A |
G |
4: 130,115,417 (GRCm39) |
S44P |
probably damaging |
Het |
Map4 |
C |
A |
9: 109,867,546 (GRCm39) |
|
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,900 (GRCm39) |
I623T |
possibly damaging |
Het |
Myo7b |
T |
A |
18: 32,116,997 (GRCm39) |
T908S |
probably benign |
Het |
Nbeal2 |
T |
G |
9: 110,472,876 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
G |
5: 63,957,757 (GRCm39) |
F362L |
probably benign |
Het |
Pcm1 |
A |
T |
8: 41,714,057 (GRCm39) |
R208W |
probably damaging |
Het |
Pkd2l1 |
T |
C |
19: 44,138,909 (GRCm39) |
D647G |
probably benign |
Het |
Plbd1 |
C |
T |
6: 136,618,145 (GRCm39) |
V24M |
probably damaging |
Het |
Polr2a |
G |
A |
11: 69,625,943 (GRCm39) |
P1698S |
unknown |
Het |
Prss12 |
T |
C |
3: 123,279,153 (GRCm39) |
I410T |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,280,964 (GRCm39) |
N565S |
probably damaging |
Het |
Rab44 |
T |
C |
17: 29,364,244 (GRCm39) |
L606P |
unknown |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Rhd |
C |
T |
4: 134,603,612 (GRCm39) |
|
probably benign |
Het |
Rspo3 |
T |
A |
10: 29,375,917 (GRCm39) |
|
probably benign |
Het |
Sdccag8 |
T |
A |
1: 176,773,710 (GRCm39) |
N555K |
probably benign |
Het |
Skint6 |
T |
A |
4: 112,722,848 (GRCm39) |
|
probably benign |
Het |
Slc22a20 |
G |
A |
19: 6,036,036 (GRCm39) |
P45S |
probably damaging |
Het |
Slc5a2 |
A |
G |
7: 127,866,654 (GRCm39) |
Y124C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,925,043 (GRCm39) |
L127P |
possibly damaging |
Het |
Taar8a |
T |
A |
10: 23,952,975 (GRCm39) |
I193N |
probably benign |
Het |
Ten1 |
C |
T |
11: 116,107,510 (GRCm39) |
|
probably benign |
Het |
Tfb2m |
T |
C |
1: 179,373,398 (GRCm39) |
E100G |
probably damaging |
Het |
Tom1 |
C |
T |
8: 75,778,934 (GRCm39) |
|
probably benign |
Het |
Vps52 |
G |
T |
17: 34,178,985 (GRCm39) |
R171L |
probably damaging |
Het |
Zcwpw2 |
A |
T |
9: 117,843,182 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx4 |
G |
A |
3: 5,468,880 (GRCm39) |
E3013K |
probably damaging |
Het |
Zfp267 |
G |
A |
3: 36,220,016 (GRCm39) |
D680N |
possibly damaging |
Het |
Zfp777 |
C |
T |
6: 48,006,294 (GRCm39) |
V411M |
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 |
IGL02480:Gucy1a1
|
APN |
3 |
82,005,040 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |