Incidental Mutation 'R3419:Gucy1a1'
ID |
266949 |
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 |
040637-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R3419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82013440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 401
(S401P)
|
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: S401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048918 Gene: ENSMUSG00000033910 AA Change: S401P
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 benign
Transcript: ENSMUST00000192289
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193924
AA Change: S401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142138 Gene: ENSMUSG00000033910 AA Change: S401P
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 |
|
Meta Mutation Damage Score |
0.8965 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
Het |
Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
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'- ACAATTTGTCCTTGCCACAGC -3'
(R):5'- TCCTCTCTGGTTTCGGAAAGG -3'
Sequencing Primer
(F):5'- TTGCCACAGCTGCTGAG -3'
(R):5'- GATTGGGAAACTTGACTAATGCATG -3'
|
Posted On |
2015-02-18 |