Incidental Mutation 'R1242:Gucy1a1'
| ID |
152035 |
| 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 |
039309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R1242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 82013260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
| AlphaFold |
Q9ERL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048976
AA Change: E461K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: E461K
| 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 |
noncoding transcript
Transcript: ENSMUST00000183464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191942
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192289
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193924
AA Change: E461K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: E461K
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
| Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
| Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
| Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
| Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
| Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
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 |
|
R0762:Gucy1a1
|
UTSW |
3 |
82,002,203 (GRCm39) |
missense |
unknown |
|
|
R0907:Gucy1a1
|
UTSW |
3 |
82,018,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
PCR Primer
(F):5'- AGCTCTCCACACTGCTGGTCAAAG -3'
(R):5'- TGGACAGGCTGGAAGATTTCACAGG -3'
Sequencing Primer
(F):5'- CTGCTGGTCAAAGCGAGTG -3'
(R):5'- ATTTCACAGGACGGGGGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation