Incidental Mutation 'R9231:Gucy1a1'
| ID |
700223 |
| 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 |
068985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R9231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82013308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 445
(E445K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
| AlphaFold |
Q9ERL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048976
AA Change: E445K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: E445K
| 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 |
probably benign
Transcript: ENSMUST00000192289
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193924
AA Change: E445K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: E445K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
98% (60/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,349,153 (GRCm39) |
Q1073R |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,551,072 (GRCm39) |
T10A |
possibly damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,234 (GRCm39) |
V876A |
possibly damaging |
Het |
| Aqp8 |
T |
A |
7: 123,061,813 (GRCm39) |
M11K |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,946,705 (GRCm39) |
I134T |
possibly damaging |
Het |
| Cdk9 |
G |
T |
2: 32,598,006 (GRCm39) |
T350N |
probably benign |
Het |
| Ckmt2 |
G |
T |
13: 92,011,311 (GRCm39) |
H100N |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,258 (GRCm39) |
D162V |
probably benign |
Het |
| Cnppd1 |
T |
C |
1: 75,116,261 (GRCm39) |
H108R |
possibly damaging |
Het |
| Col17a1 |
G |
A |
19: 47,667,861 (GRCm39) |
R139* |
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,060,661 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,819 (GRCm39) |
S39G |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,875,533 (GRCm39) |
Y144H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,662 (GRCm39) |
D882G |
probably benign |
Het |
| Emp1 |
C |
T |
6: 135,354,276 (GRCm39) |
T23I |
probably damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,226 (GRCm39) |
D186V |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,254,967 (GRCm39) |
D394E |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,509,084 (GRCm39) |
D376G |
probably benign |
Het |
| Fgfbp3 |
C |
T |
19: 36,896,193 (GRCm39) |
A142T |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,508 (GRCm39) |
S512L |
unknown |
Het |
| Fras1 |
T |
A |
5: 96,692,904 (GRCm39) |
C188S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,335 (GRCm39) |
C322R |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,284,989 (GRCm39) |
M437K |
possibly damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,754,341 (GRCm39) |
L181Q |
probably damaging |
Het |
| Gpr180 |
G |
A |
14: 118,395,455 (GRCm39) |
V296I |
probably damaging |
Het |
| H2-T24 |
T |
C |
17: 36,331,363 (GRCm39) |
D14G |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ing5 |
T |
G |
1: 93,739,505 (GRCm39) |
D37E |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,801,074 (GRCm39) |
T1051A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,275,652 (GRCm39) |
S1420T |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,912 (GRCm39) |
F646L |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,382,268 (GRCm39) |
D3731G |
probably benign |
Het |
| Mif |
T |
A |
10: 75,695,370 (GRCm39) |
I97F |
probably damaging |
Het |
| Mpp4 |
A |
T |
1: 59,163,833 (GRCm39) |
V507D |
probably damaging |
Het |
| Mrpl1 |
C |
A |
5: 96,361,719 (GRCm39) |
N35K |
probably benign |
Het |
| Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,630 (GRCm39) |
V173A |
probably damaging |
Het |
| Ninl |
C |
T |
2: 150,792,129 (GRCm39) |
R798Q |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,840 (GRCm39) |
I174V |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,875 (GRCm39) |
H343R |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,661,583 (GRCm39) |
V1455A |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,350,891 (GRCm39) |
S334T |
probably benign |
Het |
| Pcbp2 |
T |
G |
15: 102,394,477 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
T |
4: 156,302,234 (GRCm39) |
E259D |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,705,040 (GRCm39) |
N815I |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,934,286 (GRCm39) |
D838V |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,530,265 (GRCm39) |
D52G |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,223 (GRCm39) |
N39S |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,672,084 (GRCm39) |
C1657S |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,627,071 (GRCm39) |
T261S |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,164,885 (GRCm39) |
L446P |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,136,761 (GRCm39) |
D47E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,231 (GRCm39) |
T2119S |
probably damaging |
Het |
| Tent5a |
T |
G |
9: 85,208,388 (GRCm39) |
D145A |
possibly damaging |
Het |
| Tmem132b |
T |
C |
5: 125,860,531 (GRCm39) |
M592T |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,879,340 (GRCm39) |
I862N |
unknown |
Het |
| Washc2 |
C |
A |
6: 116,235,899 (GRCm39) |
D1123E |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,089 (GRCm39) |
I412M |
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 |
|
R3419: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 |
|
R9316:Gucy1a1
|
UTSW |
3 |
82,016,250 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGTGATGACCTGCAGAGG -3'
(R):5'- ACATCGTTGAATCCAGTGCCATC -3'
Sequencing Primer
(F):5'- CCTGCAGAGGTGAACACTG -3'
(R):5'- GAATCCAGTGCCATCTTGTTCTTAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation