Incidental Mutation 'IGL01875:Gucy1b2'
| ID |
178863 |
| 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 # |
IGL01875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
62630125-62693738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62657595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 211
(L211P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022501]
[ENSMUST00000128573]
[ENSMUST00000165651]
|
| AlphaFold |
Q8BXH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022501
AA Change: L211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: L211P
| 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 damaging
Transcript: ENSMUST00000165651
AA Change: L211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: L211P
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
| Afm |
G |
T |
5: 90,696,742 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,465,571 (GRCm39) |
|
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
| Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
| B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
| Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
| Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,260 (GRCm39) |
S109P |
probably damaging |
Het |
| Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
| Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
| Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
| Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
| Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
| Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,635 (GRCm39) |
E660G |
possibly damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,605,451 (GRCm39) |
D92E |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
| Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
| Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation