Incidental Mutation 'IGL01685:Gucy1b1'
| ID |
103925 |
| 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, Gucy1b3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
IGL01685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81939313-81981996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81942592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 517
(V517F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029635]
[ENSMUST00000193597]
|
| AlphaFold |
O54865 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029635
AA Change: V517F
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: V517F
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000193597
AA Change: V517F
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: V517F
| Domain | Start | End | E-Value | Type |
|---|
|
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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,591,905 (GRCm39) |
V61A |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
| Cd28 |
T |
A |
1: 60,802,307 (GRCm39) |
Y75* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,536 (GRCm39) |
Q9R |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
| Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
| Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
| Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
| Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,317 (GRCm39) |
I46T |
possibly damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
| Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
| Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,699 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
| Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
Het |
|
| Other mutations in Gucy1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gucy1b1
|
APN |
3 |
81,942,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01602:Gucy1b1
|
APN |
3 |
81,942,660 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01603:Gucy1b1
|
APN |
3 |
81,942,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01605:Gucy1b1
|
APN |
3 |
81,942,660 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01844:Gucy1b1
|
APN |
3 |
81,953,833 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02566:Gucy1b1
|
APN |
3 |
81,965,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Gucy1b1
|
UTSW |
3 |
81,947,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Gucy1b1
|
UTSW |
3 |
81,942,185 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0115:Gucy1b1
|
UTSW |
3 |
81,941,698 (GRCm39) |
missense |
probably benign |
|
|
R0126:Gucy1b1
|
UTSW |
3 |
81,945,218 (GRCm39) |
splice site |
probably benign |
|
|
R0277:Gucy1b1
|
UTSW |
3 |
81,945,463 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0323:Gucy1b1
|
UTSW |
3 |
81,945,463 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0633:Gucy1b1
|
UTSW |
3 |
81,952,767 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0691:Gucy1b1
|
UTSW |
3 |
81,952,941 (GRCm39) |
splice site |
probably benign |
|
|
R0811:Gucy1b1
|
UTSW |
3 |
81,945,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0812:Gucy1b1
|
UTSW |
3 |
81,945,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Gucy1b1
|
UTSW |
3 |
81,952,767 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1687:Gucy1b1
|
UTSW |
3 |
81,945,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Gucy1b1
|
UTSW |
3 |
81,965,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1950:Gucy1b1
|
UTSW |
3 |
81,952,716 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1995:Gucy1b1
|
UTSW |
3 |
81,942,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Gucy1b1
|
UTSW |
3 |
81,968,327 (GRCm39) |
missense |
probably benign |
|
|
R2441:Gucy1b1
|
UTSW |
3 |
81,952,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5014:Gucy1b1
|
UTSW |
3 |
81,953,974 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5397:Gucy1b1
|
UTSW |
3 |
81,951,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5494:Gucy1b1
|
UTSW |
3 |
81,947,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Gucy1b1
|
UTSW |
3 |
81,965,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Gucy1b1
|
UTSW |
3 |
81,942,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Gucy1b1
|
UTSW |
3 |
81,954,020 (GRCm39) |
splice site |
probably null |
|
|
R6331:Gucy1b1
|
UTSW |
3 |
81,941,718 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6671:Gucy1b1
|
UTSW |
3 |
81,941,715 (GRCm39) |
missense |
probably benign |
|
|
R6753:Gucy1b1
|
UTSW |
3 |
81,947,054 (GRCm39) |
missense |
probably null |
0.03 |
|
R7150:Gucy1b1
|
UTSW |
3 |
81,950,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Gucy1b1
|
UTSW |
3 |
81,940,581 (GRCm39) |
missense |
unknown |
|
|
R7461:Gucy1b1
|
UTSW |
3 |
81,947,054 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7501:Gucy1b1
|
UTSW |
3 |
81,942,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Gucy1b1
|
UTSW |
3 |
81,947,054 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7791:Gucy1b1
|
UTSW |
3 |
81,942,704 (GRCm39) |
nonsense |
probably null |
|
|
R8560:Gucy1b1
|
UTSW |
3 |
81,942,685 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9312:Gucy1b1
|
UTSW |
3 |
81,942,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Gucy1b1
|
UTSW |
3 |
81,947,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Gucy1b1
|
UTSW |
3 |
81,947,054 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9762:Gucy1b1
|
UTSW |
3 |
81,942,065 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Gucy1b1
|
UTSW |
3 |
81,968,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation