Incidental Mutation 'IGL00465:Gucy1b2'
| ID |
332125 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gucy1b2
|
| Ensembl Gene |
ENSMUSG00000021933 |
| Gene Name |
guanylate cyclase 1, soluble, beta 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
IGL00465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
62630125-62693738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62640649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 752
(Q752P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022501]
[ENSMUST00000165651]
|
| AlphaFold |
Q8BXH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022501
AA Change: Q767P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: Q767P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNOB
|
83 |
244 |
6e-60 |
PFAM |
|
Blast:CYCc
|
263 |
362 |
3e-24 |
BLAST |
|
PDB:4GJ4|D
|
350 |
471 |
4e-8 |
PDB |
|
CYCc
|
513 |
712 |
1.11e-108 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165651
AA Change: Q752P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: Q752P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNOB
|
82 |
250 |
1.1e-53 |
PFAM |
|
Blast:CYCc
|
263 |
347 |
6e-25 |
BLAST |
|
PDB:4GJ4|D
|
335 |
456 |
5e-8 |
PDB |
|
CYCc
|
498 |
697 |
1.11e-108 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,046,054 (GRCm39) |
D279V |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
| Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
| Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
| Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
| Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
| Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
| Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
| Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
| Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
| Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
| Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
| Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,457,729 (GRCm39) |
T33S |
probably benign |
Het |
| Shroom1 |
T |
A |
11: 53,354,921 (GRCm39) |
D280E |
probably benign |
Het |
| Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
A |
3: 22,246,432 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
T |
C |
2: 130,103,224 (GRCm39) |
S787P |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
| Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
| Other mutations in Gucy1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Gucy1b2
|
APN |
14 |
62,643,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00756:Gucy1b2
|
APN |
14 |
62,640,658 (GRCm39) |
missense |
probably benign |
|
|
IGL01800:Gucy1b2
|
APN |
14 |
62,649,104 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01875:Gucy1b2
|
APN |
14 |
62,657,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Gucy1b2
|
APN |
14 |
62,653,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03110:Gucy1b2
|
APN |
14 |
62,671,283 (GRCm39) |
splice site |
probably benign |
|
|
IGL02796:Gucy1b2
|
UTSW |
14 |
62,645,143 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0183:Gucy1b2
|
UTSW |
14 |
62,656,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Gucy1b2
|
UTSW |
14 |
62,640,608 (GRCm39) |
splice site |
probably benign |
|
|
R0815:Gucy1b2
|
UTSW |
14 |
62,656,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0863:Gucy1b2
|
UTSW |
14 |
62,656,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0972:Gucy1b2
|
UTSW |
14 |
62,651,818 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0972:Gucy1b2
|
UTSW |
14 |
62,646,127 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1438:Gucy1b2
|
UTSW |
14 |
62,651,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2011:Gucy1b2
|
UTSW |
14 |
62,646,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2409:Gucy1b2
|
UTSW |
14 |
62,643,628 (GRCm39) |
frame shift |
probably null |
|
|
R3692:Gucy1b2
|
UTSW |
14 |
62,642,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Gucy1b2
|
UTSW |
14 |
62,649,038 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4715:Gucy1b2
|
UTSW |
14 |
62,660,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4730:Gucy1b2
|
UTSW |
14 |
62,645,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Gucy1b2
|
UTSW |
14 |
62,653,346 (GRCm39) |
splice site |
probably null |
|
|
R4839:Gucy1b2
|
UTSW |
14 |
62,685,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Gucy1b2
|
UTSW |
14 |
62,642,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Gucy1b2
|
UTSW |
14 |
62,690,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5656:Gucy1b2
|
UTSW |
14 |
62,660,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Gucy1b2
|
UTSW |
14 |
62,651,750 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6000:Gucy1b2
|
UTSW |
14 |
62,656,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Gucy1b2
|
UTSW |
14 |
62,653,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Gucy1b2
|
UTSW |
14 |
62,630,401 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7487:Gucy1b2
|
UTSW |
14 |
62,685,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7607:Gucy1b2
|
UTSW |
14 |
62,656,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Gucy1b2
|
UTSW |
14 |
62,630,319 (GRCm39) |
missense |
probably benign |
|
|
R8285:Gucy1b2
|
UTSW |
14 |
62,657,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8287:Gucy1b2
|
UTSW |
14 |
62,649,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Gucy1b2
|
UTSW |
14 |
62,656,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF030:Gucy1b2
|
UTSW |
14 |
62,646,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF035:Gucy1b2
|
UTSW |
14 |
62,646,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1177:Gucy1b2
|
UTSW |
14 |
62,690,902 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation