Incidental Mutation 'R3418:Gucy1a1'
ID |
266886 |
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 |
040636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R3418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
81999734-82053096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82013440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 401
(S401P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048976]
[ENSMUST00000193924]
|
AlphaFold |
Q9ERL9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048976
AA Change: S401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048918 Gene: ENSMUSG00000033910 AA Change: S401P
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 |
noncoding transcript
Transcript: ENSMUST00000183464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192289
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193924
AA Change: S401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142138 Gene: ENSMUSG00000033910 AA Change: S401P
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 |
|
Meta Mutation Damage Score |
0.8965 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Acaa1a |
A |
G |
9: 119,178,556 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
C |
5: 31,062,067 (GRCm39) |
S756P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Cdc16 |
C |
T |
8: 13,819,489 (GRCm39) |
Q362* |
probably null |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Cep170b |
C |
T |
12: 112,704,902 (GRCm39) |
Q887* |
probably null |
Het |
Chd9 |
T |
C |
8: 91,763,219 (GRCm39) |
I2348T |
probably damaging |
Het |
Clec9a |
A |
G |
6: 129,398,001 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
D130040H23Rik |
T |
C |
8: 69,755,579 (GRCm39) |
I328T |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,302,728 (GRCm39) |
D1725E |
possibly damaging |
Het |
Dnajb14 |
A |
G |
3: 137,598,631 (GRCm39) |
D123G |
probably null |
Het |
Dock2 |
A |
T |
11: 34,580,587 (GRCm39) |
M661K |
probably damaging |
Het |
Esam |
C |
T |
9: 37,448,426 (GRCm39) |
|
probably null |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,169,824 (GRCm39) |
H2978Q |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,162,846 (GRCm39) |
T2147A |
possibly damaging |
Het |
Fdft1 |
T |
C |
14: 63,394,070 (GRCm39) |
T214A |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,211,252 (GRCm39) |
S147G |
probably benign |
Het |
Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
Gcat |
A |
T |
15: 78,926,297 (GRCm39) |
T56S |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,047,454 (GRCm39) |
|
probably null |
Het |
Gm4736 |
A |
T |
6: 132,092,640 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,820,108 (GRCm39) |
N368S |
probably benign |
Het |
Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
Htr1f |
G |
A |
16: 64,746,260 (GRCm39) |
P344L |
probably damaging |
Het |
Ighv7-3 |
T |
A |
12: 114,116,919 (GRCm39) |
Y81F |
probably damaging |
Het |
Jakmip3 |
C |
A |
7: 138,619,474 (GRCm39) |
|
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Khdrbs3 |
T |
C |
15: 68,921,224 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Myom2 |
T |
G |
8: 15,135,294 (GRCm39) |
I499S |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,850,521 (GRCm39) |
F1126L |
possibly damaging |
Het |
Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pou6f1 |
C |
A |
15: 100,478,805 (GRCm39) |
V368L |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rbm45 |
A |
G |
2: 76,209,362 (GRCm39) |
E392G |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Rnf222 |
G |
T |
11: 68,783,982 (GRCm39) |
R183L |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,832,805 (GRCm39) |
T1526I |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
Slc13a2 |
A |
G |
11: 78,291,666 (GRCm39) |
F329S |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,476,850 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,446 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,958,901 (GRCm39) |
Y146C |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,737,130 (GRCm39) |
D79G |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,892,243 (GRCm39) |
|
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,780,754 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
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 |
|
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 |
R9231:Gucy1a1
|
UTSW |
3 |
82,013,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Gucy1a1
|
UTSW |
3 |
82,016,250 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATTTGTCCTTGCCACAGC -3'
(R):5'- TTCCTCTCTGGTTTCGGAAAGG -3'
Sequencing Primer
(F):5'- TTGCCACAGCTGCTGAG -3'
(R):5'- GATTGGGAAACTTGACTAATGCATG -3'
|
Posted On |
2015-02-18 |