Incidental Mutation 'IGL03089:Gucy1a1'
ID418279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1a1
Ensembl Gene ENSMUSG00000033910
Gene Nameguanylate cyclase 1, soluble, alpha 1
SynonymssGC-alpha1, alpha 1 sGC, 1200016O07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL03089
Quality Score
Status
Chromosome3
Chromosomal Location82092427-82145789 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82097681 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 599 (N599S)
Ref Sequence ENSEMBL: ENSMUSP00000142138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048976] [ENSMUST00000193924]
Predicted Effect probably damaging
Transcript: ENSMUST00000048976
AA Change: N599S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: N599S

DomainStartEndE-ValueType
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: N599S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: N599S

DomainStartEndE-ValueType
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Elmod3 A G 6: 72,569,316 S254P probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Klhl26 A T 8: 70,455,633 N24K probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lin54 A T 5: 100,450,993 F319L probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr1218 T C 2: 89,055,013 R138G probably benign Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vipas39 C T 12: 87,253,254 C149Y probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Gucy1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Gucy1a1 APN 3 82111191 missense probably benign 0.00
IGL01626:Gucy1a1 APN 3 82108619 missense probably damaging 1.00
IGL01662:Gucy1a1 APN 3 82109253 missense possibly damaging 0.63
IGL02480:Gucy1a1 APN 3 82097733 missense probably damaging 1.00
IGL02902:Gucy1a1 APN 3 82118917 missense possibly damaging 0.87
IGL03022:Gucy1a1 APN 3 82109097 missense probably benign 0.30
IGL03056:Gucy1a1 APN 3 82113287 missense probably benign 0.00
IGL03226:Gucy1a1 APN 3 82119024 missense probably benign 0.00
IGL03377:Gucy1a1 APN 3 82106015 missense probably damaging 1.00
R0245:Gucy1a1 UTSW 3 82108787 missense possibly damaging 0.67
R0762:Gucy1a1 UTSW 3 82094896 missense unknown
R0907:Gucy1a1 UTSW 3 82111191 missense probably benign 0.00
R1242:Gucy1a1 UTSW 3 82105953 splice site probably null
R1625:Gucy1a1 UTSW 3 82102055 missense probably benign 0.02
R1671:Gucy1a1 UTSW 3 82106222 missense probably damaging 1.00
R2056:Gucy1a1 UTSW 3 82109285 missense possibly damaging 0.89
R2094:Gucy1a1 UTSW 3 82113332 missense probably benign
R2140:Gucy1a1 UTSW 3 82118886 splice site probably null
R2154:Gucy1a1 UTSW 3 82111151 critical splice donor site probably null
R3418:Gucy1a1 UTSW 3 82106133 missense probably damaging 1.00
R3419:Gucy1a1 UTSW 3 82106133 missense probably damaging 1.00
R4290:Gucy1a1 UTSW 3 82094759 missense possibly damaging 0.95
R4291:Gucy1a1 UTSW 3 82094759 missense possibly damaging 0.95
R4292:Gucy1a1 UTSW 3 82094759 missense possibly damaging 0.95
R4294:Gucy1a1 UTSW 3 82094759 missense possibly damaging 0.95
R4573:Gucy1a1 UTSW 3 82108922 missense possibly damaging 0.95
R4629:Gucy1a1 UTSW 3 82097624 missense probably damaging 1.00
R4755:Gucy1a1 UTSW 3 82094795 missense probably benign 0.40
R4865:Gucy1a1 UTSW 3 82119162 utr 5 prime probably benign
R5528:Gucy1a1 UTSW 3 82109073 missense probably damaging 1.00
R5933:Gucy1a1 UTSW 3 82094807 missense probably damaging 0.96
R6278:Gucy1a1 UTSW 3 82097634 missense probably damaging 1.00
R6385:Gucy1a1 UTSW 3 82109006 missense probably benign
R7011:Gucy1a1 UTSW 3 82109115 missense probably damaging 1.00
R7361:Gucy1a1 UTSW 3 82097720 missense probably damaging 1.00
R7648:Gucy1a1 UTSW 3 82108707 missense possibly damaging 0.63
R7709:Gucy1a1 UTSW 3 82094789 missense unknown
R7770:Gucy1a1 UTSW 3 82108805 missense possibly damaging 0.95
R8443:Gucy1a1 UTSW 3 82097693 missense probably damaging 1.00
R8531:Gucy1a1 UTSW 3 82111161 missense probably benign
R8872:Gucy1a1 UTSW 3 82108742 missense probably damaging 0.99
Posted On2016-08-02