Incidental Mutation 'R8531:Gucy1a1'
| ID |
659030 |
| 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 |
068501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R8531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82018468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 123
(I123T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
| AlphaFold |
Q9ERL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048976
AA Change: I123T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: I123T
| 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: ENSMUST00000193924
AA Change: I123T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: I123T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,622 (GRCm39) |
R1506S |
probably benign |
Het |
| Acox2 |
T |
C |
14: 8,247,960 (GRCm38) |
T441A |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,917 (GRCm39) |
E430G |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,540,439 (GRCm39) |
E690G |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,611,873 (GRCm39) |
I101V |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,903 (GRCm39) |
I493T |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,028 (GRCm39) |
M61T |
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,273,429 (GRCm39) |
Y481H |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,319 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,334,182 (GRCm39) |
V993F |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,424,066 (GRCm39) |
Q110R |
probably null |
Het |
| Dmp1 |
A |
C |
5: 104,360,269 (GRCm39) |
D315A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,591 (GRCm39) |
K3243E |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,101,449 (GRCm39) |
N648S |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,114,274 (GRCm39) |
D327N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,106 (GRCm39) |
D318G |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,163 (GRCm39) |
C118* |
probably null |
Het |
| Flad1 |
A |
C |
3: 89,310,517 (GRCm39) |
Y479D |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,929,939 (GRCm38) |
F2023S |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,531 (GRCm39) |
L189P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,779,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Ifnar1 |
T |
A |
16: 91,292,344 (GRCm39) |
C199* |
probably null |
Het |
| Lepr |
A |
T |
4: 101,622,612 (GRCm39) |
Y464F |
probably damaging |
Het |
| Mamdc4 |
G |
T |
2: 25,457,730 (GRCm39) |
Q452K |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,290,175 (GRCm39) |
|
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,034,076 (GRCm39) |
I429V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,181,074 (GRCm39) |
M1178L |
possibly damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,670 (GRCm39) |
E442G |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,612 (GRCm39) |
R82L |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,029 (GRCm39) |
M478K |
probably benign |
Het |
| Or5aq6 |
G |
T |
2: 86,923,670 (GRCm39) |
Q24K |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,693,016 (GRCm39) |
L166V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,908 (GRCm39) |
D62G |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,901,473 (GRCm39) |
R391C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,592 (GRCm39) |
Y755C |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,368 (GRCm39) |
F708I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,932 (GRCm39) |
T213S |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,601 (GRCm39) |
D395E |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,799,332 (GRCm39) |
S278P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,225,596 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
C |
G |
11: 119,365,031 (GRCm39) |
Q4563E |
probably benign |
Het |
| Rttn |
C |
A |
18: 89,131,467 (GRCm39) |
R1949S |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,788 (GRCm39) |
I140V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,115,462 (GRCm39) |
M53K |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,676,896 (GRCm39) |
D226V |
possibly damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,847 (GRCm39) |
Y459F |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,946,569 (GRCm39) |
V97A |
unknown |
Het |
| Slc26a4 |
C |
T |
12: 31,599,911 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,097,851 (GRCm39) |
Y517H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,909 (GRCm39) |
W947R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,653,239 (GRCm39) |
D167G |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,410,020 (GRCm39) |
M729K |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,538 (GRCm39) |
I37T |
possibly damaging |
Het |
| Tmem259 |
A |
G |
10: 79,813,819 (GRCm39) |
V423A |
probably damaging |
Het |
| Tmem62 |
G |
T |
2: 120,837,533 (GRCm39) |
L483F |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,031,777 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
T |
13: 59,937,074 (GRCm39) |
I1191K |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,893,720 (GRCm39) |
C20F |
possibly damaging |
Het |
| Ube2w |
A |
C |
1: 16,672,542 (GRCm39) |
N46K |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,013,922 (GRCm39) |
H300L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,049,855 (GRCm39) |
H920Q |
probably benign |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,900 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,459 (GRCm39) |
I278F |
possibly damaging |
Het |
| Zfp260 |
T |
A |
7: 29,804,884 (GRCm39) |
H261Q |
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 |
|
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 |
|
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'- TTGAGGCCACGTGTAGTATAGAAG -3'
(R):5'- ACAAAGCCATGCAGTTGATG -3'
Sequencing Primer
(F):5'- GGGGTTACTCTGCATTAACACAC -3'
(R):5'- TGCAGTTGATGTATGAAGACACTGAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation