Incidental Mutation 'IGL03273:Guca1a'
| ID |
415326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Guca1a
|
| Ensembl Gene |
ENSMUSG00000023982 |
| Gene Name |
guanylate cyclase activator 1a (retina) |
| Synonyms |
mGCAP1, Guca1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL03273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47705483-47711509 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47706098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024774]
[ENSMUST00000059348]
[ENSMUST00000145462]
|
| AlphaFold |
P43081 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024774
|
| SMART Domains |
Protein: ENSMUSP00000024774
Gene: ENSMUSG00000023979
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
57 |
85 |
6.35e-4 |
SMART |
|
EFh
|
93 |
121 |
3.65e-4 |
SMART |
|
EFh
|
146 |
174 |
5.83e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059348
AA Change: D127G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: D127G
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
55 |
83 |
3.01e-5 |
SMART |
|
EFh
|
91 |
119 |
2.44e-5 |
SMART |
|
EFh
|
135 |
163 |
5.83e-3 |
SMART |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145462
|
| SMART Domains |
Protein: ENSMUSP00000126799
Gene: ENSMUSG00000023979
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
57 |
85 |
6.35e-4 |
SMART |
|
EFh
|
93 |
121 |
3.65e-4 |
SMART |
|
low complexity region
|
180 |
190 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a calcium-binding photoreceptor protein. The encoded protein may be involved in modulation of guanylyl cyclase activity, and in turn, the mammalian cone phototransduction cascade. Disruption of this gene results in the retinal degeneration associated with cone dystrophy. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
| Aldoart1 |
T |
C |
4: 72,770,346 (GRCm39) |
K154R |
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,462,472 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
| Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
| Fbln7 |
A |
T |
2: 128,737,390 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
| Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
| Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
| Mysm1 |
A |
C |
4: 94,853,955 (GRCm39) |
S215A |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
| Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
| Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
|
| Other mutations in Guca1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Guca1a
|
APN |
17 |
47,711,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01684:Guca1a
|
APN |
17 |
47,706,068 (GRCm39) |
missense |
probably null |
0.83 |
|
IGL01969:Guca1a
|
APN |
17 |
47,711,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02441:Guca1a
|
APN |
17 |
47,705,578 (GRCm39) |
unclassified |
probably benign |
|
|
R1216:Guca1a
|
UTSW |
17 |
47,706,637 (GRCm39) |
unclassified |
probably benign |
|
|
R1666:Guca1a
|
UTSW |
17 |
47,711,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Guca1a
|
UTSW |
17 |
47,705,662 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5433:Guca1a
|
UTSW |
17 |
47,711,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6996:Guca1a
|
UTSW |
17 |
47,706,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8419:Guca1a
|
UTSW |
17 |
47,706,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9520:Guca1a
|
UTSW |
17 |
47,711,335 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1088:Guca1a
|
UTSW |
17 |
47,711,335 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Guca1a
|
UTSW |
17 |
47,711,335 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Guca1a
|
UTSW |
17 |
47,711,335 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation