Incidental Mutation 'IGL03033:Gucy1b2'
| ID |
408539 |
| 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: 0.340)
|
| Stock # |
IGL03033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
62630125-62693738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62653393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 334
(V334A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022501]
[ENSMUST00000128573]
[ENSMUST00000165651]
|
| AlphaFold |
Q8BXH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022501
AA Change: V349A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: V349A
| 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 |
noncoding transcript
Transcript: ENSMUST00000128573
|
| SMART Domains |
Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNOB
|
1 |
167 |
1.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165651
AA Change: V334A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: V334A
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,452 (GRCm39) |
T566S |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
| Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
| Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
| Gm20547 |
A |
T |
17: 35,078,492 (GRCm39) |
M362K |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
| Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
| Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
| Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
| Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
| Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
| Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
| Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,537,596 (GRCm39) |
I1211V |
possibly damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
| Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
| Tmem198 |
A |
G |
1: 75,459,612 (GRCm39) |
D189G |
possibly damaging |
Het |
| Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
| Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
| Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
| Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,382,522 (GRCm39) |
V603M |
probably benign |
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 |
|
IGL00465:Gucy1b2
|
APN |
14 |
62,640,649 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation