Incidental Mutation 'IGL01548:Gucy1b1'
ID 93213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1b1
Ensembl Gene ENSMUSG00000028005
Gene Name guanylate cyclase 1, soluble, beta 1
Synonyms beta 1 sGC
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # IGL01548
Quality Score
Status
Chromosome 3
Chromosomal Location 82032006-82074689 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82034862 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 530 (T530K)
Ref Sequence ENSEMBL: ENSMUSP00000142119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029635] [ENSMUST00000193597]
AlphaFold O54865
Predicted Effect probably damaging
Transcript: ENSMUST00000029635
AA Change: T530K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: T530K

DomainStartEndE-ValueType
Pfam:HNOB 2 166 3.4e-58 PFAM
low complexity region 182 189 N/A INTRINSIC
PDB:4GJ4|D 212 343 9e-16 PDB
CYCc 385 586 3.53e-93 SMART
low complexity region 608 620 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192508
Predicted Effect probably damaging
Transcript: ENSMUST00000193597
AA Change: T530K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: T530K

DomainStartEndE-ValueType
Pfam:HNOB 1 172 1.5e-67 PFAM
low complexity region 182 189 N/A INTRINSIC
PDB:4GJ4|D 212 343 9e-16 PDB
CYCc 385 582 1.71e-91 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice that bypass neonatal lethality die prematurely due to severe gastrointestinal obstruction and exhibit hypertension, reduced heart rate, lack of glycerol trinitrate-induced drop in systolic pressure, and lack of a nitric oxide effect on aortic relaxation and platelet aggregation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,814,259 (GRCm38) N110D probably damaging Het
Acot3 C T 12: 84,057,089 (GRCm38) T224I probably benign Het
Adamts18 C T 8: 113,764,299 (GRCm38) G512E probably damaging Het
Atp4b A G 8: 13,389,679 (GRCm38) I181T probably damaging Het
Bcl11a A G 11: 24,163,346 (GRCm38) I230V probably benign Het
Cenpj C A 14: 56,532,319 (GRCm38) V1138L probably benign Het
Cep78 A G 19: 15,981,200 (GRCm38) probably benign Het
Clec2j T A 6: 128,655,978 (GRCm38) noncoding transcript Het
Col5a3 T C 9: 20,803,000 (GRCm38) probably benign Het
Cpne6 A T 14: 55,512,726 (GRCm38) T105S probably damaging Het
Csmd1 A T 8: 16,288,646 (GRCm38) Y482* probably null Het
Ctrl C A 8: 105,933,258 (GRCm38) probably benign Het
Dhcr24 T A 4: 106,573,871 (GRCm38) C252* probably null Het
Dnah17 G A 11: 118,098,612 (GRCm38) P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 (GRCm38) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm38) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 (GRCm38) S191A probably damaging Het
Fam205c T C 4: 42,868,564 (GRCm38) E353G probably benign Het
Fat4 T C 3: 38,887,758 (GRCm38) S267P probably damaging Het
Fat4 G A 3: 39,009,257 (GRCm38) C4454Y probably damaging Het
Frrs1 T C 3: 116,885,185 (GRCm38) C219R probably damaging Het
Gabra6 T A 11: 42,317,023 (GRCm38) Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 (GRCm38) C242* probably null Het
Gm2840 G A 5: 96,174,277 (GRCm38) noncoding transcript Het
Gm6614 A G 6: 141,992,512 (GRCm38) I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 (GRCm38) T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 (GRCm38) G423S probably benign Het
Golim4 C T 3: 75,908,125 (GRCm38) probably null Het
Hacl1 A T 14: 31,640,596 (GRCm38) D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 (GRCm38) T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 (GRCm38) I26T probably damaging Het
Hspa1l G A 17: 34,978,391 (GRCm38) A469T probably damaging Het
Htra3 T A 5: 35,664,076 (GRCm38) probably null Het
Lrrc28 C A 7: 67,628,294 (GRCm38) probably null Het
Mfhas1 T C 8: 35,590,459 (GRCm38) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm38) K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 (GRCm38) Y188H probably damaging Het
Myom1 A G 17: 71,101,220 (GRCm38) probably benign Het
Naca A T 10: 128,040,904 (GRCm38) probably benign Het
Nckap1l T A 15: 103,462,720 (GRCm38) V213D probably benign Het
Ndufa6 C T 15: 82,354,081 (GRCm38) V50M possibly damaging Het
Olfr1000 A G 2: 85,608,761 (GRCm38) W50R probably benign Het
Olfr1055 T A 2: 86,347,733 (GRCm38) Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 (GRCm38) F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 (GRCm38) F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 (GRCm38) T220A probably benign Het
Osbpl1a T C 18: 12,763,575 (GRCm38) Y311C probably damaging Het
Parp11 A C 6: 127,491,599 (GRCm38) Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 (GRCm38) probably null Het
Plec T C 15: 76,189,258 (GRCm38) R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 (GRCm38) Y375N probably benign Het
Prss35 C A 9: 86,755,274 (GRCm38) S32R probably benign Het
Prss57 C T 10: 79,785,747 (GRCm38) probably benign Het
Ptprc A C 1: 138,099,481 (GRCm38) probably null Het
Rims1 A G 1: 22,538,602 (GRCm38) C188R probably damaging Het
Ripk4 G T 16: 97,751,496 (GRCm38) Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 (GRCm38) probably benign Het
Rps6ka4 A G 19: 6,832,323 (GRCm38) V378A probably benign Het
Rtf1 A G 2: 119,712,108 (GRCm38) K298E probably benign Het
Sdk1 T C 5: 142,085,765 (GRCm38) F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 (GRCm38) K543E probably benign Het
Sorcs3 A T 19: 48,794,168 (GRCm38) I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 (GRCm38) M818T probably benign Het
Tas2r119 T A 15: 32,177,977 (GRCm38) F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 (GRCm38) D716G probably damaging Het
Tfg A G 16: 56,701,102 (GRCm38) S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 (GRCm38) I45V probably damaging Het
Tle1 A G 4: 72,170,718 (GRCm38) L96P probably damaging Het
Tmem260 A C 14: 48,480,325 (GRCm38) S276R possibly damaging Het
Utp20 A G 10: 88,764,781 (GRCm38) S24P probably damaging Het
Vcam1 T C 3: 116,115,951 (GRCm38) I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 (GRCm38) N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 (GRCm38) Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 (GRCm38) I822V probably benign Het
Wdr6 C T 9: 108,574,897 (GRCm38) V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 (GRCm38) K132N possibly damaging Het
Other mutations in Gucy1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01602:Gucy1b1 APN 3 82,035,353 (GRCm38) missense probably benign 0.17
IGL01603:Gucy1b1 APN 3 82,034,868 (GRCm38) missense probably damaging 0.98
IGL01605:Gucy1b1 APN 3 82,035,353 (GRCm38) missense probably benign 0.17
IGL01685:Gucy1b1 APN 3 82,035,285 (GRCm38) missense probably benign 0.27
IGL01844:Gucy1b1 APN 3 82,046,526 (GRCm38) missense possibly damaging 0.95
IGL02566:Gucy1b1 APN 3 82,058,329 (GRCm38) missense probably damaging 1.00
R0014:Gucy1b1 UTSW 3 82,039,861 (GRCm38) missense probably damaging 1.00
R0068:Gucy1b1 UTSW 3 82,034,878 (GRCm38) missense probably benign 0.34
R0115:Gucy1b1 UTSW 3 82,034,391 (GRCm38) missense probably benign
R0126:Gucy1b1 UTSW 3 82,037,911 (GRCm38) splice site probably benign
R0277:Gucy1b1 UTSW 3 82,038,156 (GRCm38) critical splice acceptor site probably null
R0323:Gucy1b1 UTSW 3 82,038,156 (GRCm38) critical splice acceptor site probably null
R0633:Gucy1b1 UTSW 3 82,045,460 (GRCm38) missense probably benign 0.02
R0691:Gucy1b1 UTSW 3 82,045,634 (GRCm38) splice site probably benign
R0811:Gucy1b1 UTSW 3 82,037,988 (GRCm38) missense probably benign 0.04
R0812:Gucy1b1 UTSW 3 82,037,988 (GRCm38) missense probably benign 0.04
R1670:Gucy1b1 UTSW 3 82,045,460 (GRCm38) missense probably benign 0.10
R1687:Gucy1b1 UTSW 3 82,038,042 (GRCm38) missense probably damaging 1.00
R1856:Gucy1b1 UTSW 3 82,058,352 (GRCm38) missense probably benign 0.00
R1950:Gucy1b1 UTSW 3 82,045,409 (GRCm38) missense probably benign 0.43
R1995:Gucy1b1 UTSW 3 82,034,853 (GRCm38) missense probably damaging 1.00
R2156:Gucy1b1 UTSW 3 82,061,020 (GRCm38) missense probably benign
R2441:Gucy1b1 UTSW 3 82,045,454 (GRCm38) missense probably damaging 0.98
R5014:Gucy1b1 UTSW 3 82,046,667 (GRCm38) missense probably benign 0.43
R5397:Gucy1b1 UTSW 3 82,044,151 (GRCm38) missense possibly damaging 0.92
R5494:Gucy1b1 UTSW 3 82,039,876 (GRCm38) missense probably damaging 1.00
R6003:Gucy1b1 UTSW 3 82,058,277 (GRCm38) missense probably damaging 1.00
R6088:Gucy1b1 UTSW 3 82,034,880 (GRCm38) missense probably damaging 1.00
R6216:Gucy1b1 UTSW 3 82,046,713 (GRCm38) splice site probably null
R6331:Gucy1b1 UTSW 3 82,034,411 (GRCm38) missense possibly damaging 0.75
R6671:Gucy1b1 UTSW 3 82,034,408 (GRCm38) missense probably benign
R6753:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense probably null 0.03
R7150:Gucy1b1 UTSW 3 82,043,162 (GRCm38) missense probably damaging 1.00
R7228:Gucy1b1 UTSW 3 82,033,274 (GRCm38) missense unknown
R7461:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R7501:Gucy1b1 UTSW 3 82,035,359 (GRCm38) missense probably damaging 1.00
R7613:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R7791:Gucy1b1 UTSW 3 82,035,397 (GRCm38) nonsense probably null
R8560:Gucy1b1 UTSW 3 82,035,378 (GRCm38) missense probably damaging 0.98
R9312:Gucy1b1 UTSW 3 82,034,816 (GRCm38) missense probably damaging 1.00
R9553:Gucy1b1 UTSW 3 82,039,780 (GRCm38) missense probably damaging 1.00
R9559:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R9762:Gucy1b1 UTSW 3 82,034,758 (GRCm38) missense possibly damaging 0.76
Z1177:Gucy1b1 UTSW 3 82,061,112 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-09