Incidental Mutation 'R6753:Gucy1b1'
| ID |
530878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy1b1
|
| Ensembl Gene |
ENSMUSG00000028005 |
| Gene Name |
guanylate cyclase 1, soluble, beta 1 |
| Synonyms |
beta 1 sGC |
| MMRRC Submission |
044870-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R6753 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
82032006-82074689 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82039747 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 385
(D385G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029635]
[ENSMUST00000193597]
|
| AlphaFold |
O54865 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029635
AA Change: D385G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: D385G
| 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 null
Transcript: ENSMUST00000193597
AA Change: D385G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: D385G
| 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 |
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 120,010,151 (GRCm38) |
P1083S |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,944,906 (GRCm38) |
N101I |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,179,553 (GRCm38) |
V67A |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,368,570 (GRCm38) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,886,777 (GRCm38) |
M586K |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 177,050,190 (GRCm38) |
Y337* |
probably null |
Het |
| Armc1 |
A |
G |
3: 19,144,398 (GRCm38) |
F133L |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 136,093,308 (GRCm38) |
E424G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 84,580,205 (GRCm38) |
E1363G |
probably damaging |
Het |
| Cacna1d |
C |
A |
14: 30,042,786 (GRCm38) |
A2076S |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,991,524 (GRCm38) |
L606* |
probably null |
Het |
| Ccdc8 |
C |
T |
7: 16,996,637 (GRCm38) |
Q684* |
probably null |
Het |
| Ces1b |
T |
A |
8: 93,067,020 (GRCm38) |
K314* |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,215,128 (GRCm38) |
N238I |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,114,300 (GRCm38) |
N1238S |
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,222,979 (GRCm38) |
D640E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,958,128 (GRCm38) |
T559I |
unknown |
Het |
| Comt |
T |
C |
16: 18,408,021 (GRCm38) |
K205R |
probably benign |
Het |
| Dbp |
A |
T |
7: 45,708,404 (GRCm38) |
E232V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,456,130 (GRCm38) |
T470A |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,754,987 (GRCm38) |
D1519V |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,237,906 (GRCm38) |
H31L |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,563,339 (GRCm38) |
I86N |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,915,061 (GRCm38) |
E4532K |
possibly damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,732,159 (GRCm38) |
S301P |
probably benign |
Het |
| Gas2l1 |
C |
T |
11: 5,064,254 (GRCm38) |
V69I |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,958,084 (GRCm38) |
I107K |
probably damaging |
Het |
| Ints1 |
T |
A |
5: 139,765,175 (GRCm38) |
E824D |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 85,835,078 (GRCm38) |
D142G |
probably benign |
Het |
| Jaml |
A |
G |
9: 45,107,379 (GRCm38) |
N359D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,850,377 (GRCm38) |
I289L |
probably benign |
Het |
| Klf12 |
G |
A |
14: 100,109,776 (GRCm38) |
Q40* |
probably null |
Het |
| Mcm4 |
A |
C |
16: 15,629,362 (GRCm38) |
N579K |
possibly damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,867,358 (GRCm38) |
F179I |
possibly damaging |
Het |
| Mmp11 |
C |
T |
10: 75,928,374 (GRCm38) |
V86M |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,115,882 (GRCm38) |
V101A |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,242,626 (GRCm38) |
H84Q |
probably benign |
Het |
| Olfr987 |
C |
A |
2: 85,331,798 (GRCm38) |
M33I |
probably benign |
Het |
| Otog |
A |
C |
7: 46,249,071 (GRCm38) |
E204D |
probably benign |
Het |
| Parp8 |
G |
A |
13: 116,895,115 (GRCm38) |
H354Y |
possibly damaging |
Het |
| Pcnx |
C |
A |
12: 81,964,480 (GRCm38) |
D1238E |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,376,982 (GRCm38) |
L184P |
possibly damaging |
Het |
| Pkd1l3 |
C |
T |
8: 109,624,449 (GRCm38) |
T642I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,589,663 (GRCm38) |
E3995K |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,544,956 (GRCm38) |
Y521N |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,184,456 (GRCm38) |
S1105G |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,756,100 (GRCm38) |
F308I |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,701,055 (GRCm38) |
A167V |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,566,973 (GRCm38) |
Q871R |
possibly damaging |
Het |
| Rorb |
A |
T |
19: 18,957,247 (GRCm38) |
M253K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,652,610 (GRCm38) |
D4269G |
probably damaging |
Het |
| Snx11 |
T |
C |
11: 96,769,906 (GRCm38) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,657,188 (GRCm38) |
Q941R |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,747,785 (GRCm38) |
R1880L |
probably benign |
Het |
| Sun1 |
G |
A |
5: 139,215,259 (GRCm38) |
|
probably null |
Het |
| Tprn |
A |
G |
2: 25,264,038 (GRCm38) |
R451G |
probably benign |
Het |
| Trbv30 |
T |
A |
6: 41,281,377 (GRCm38) |
M1K |
probably null |
Het |
| Ttn |
C |
A |
2: 76,738,221 (GRCm38) |
G25697W |
probably damaging |
Het |
| Ubb |
T |
G |
11: 62,551,527 (GRCm38) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,331 (GRCm38) |
R1038C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,696,911 (GRCm38) |
M687V |
probably benign |
Het |
| Zfp160 |
G |
A |
17: 21,020,734 (GRCm38) |
M21I |
probably benign |
Het |
| Zfp868 |
T |
C |
8: 69,612,096 (GRCm38) |
N196S |
probably benign |
Het |
| Zufsp |
A |
T |
10: 33,928,029 (GRCm38) |
I483N |
probably damaging |
Het |
|
| Other mutations in Gucy1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gucy1b1
|
APN |
3 |
82,034,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGATAAGGGTTCCACTGC -3'
(R):5'- GATGAACCTGGACGACCTAAC -3'
Sequencing Primer
(F):5'- CACTGCAGATTTGTGGAACC -3'
(R):5'- CCTAACAAGAAGAGGCCTGTATCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation