Incidental Mutation 'IGL01113:Gdpd3'
| ID |
51576 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gdpd3
|
| Ensembl Gene |
ENSMUSG00000030703 |
| Gene Name |
glycerophosphodiester phosphodiesterase domain containing 3 |
| Synonyms |
1110015E22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126365586-126374817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126366997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 182
(S182R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032944]
[ENSMUST00000050201]
[ENSMUST00000057669]
[ENSMUST00000091328]
|
| AlphaFold |
Q99LY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032944
AA Change: S182R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: S182R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
44 |
202 |
1.1e-23 |
PFAM |
|
low complexity region
|
208 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050201
|
| SMART Domains |
Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
S_TKc
|
43 |
331 |
3.3e-97 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057669
|
| SMART Domains |
Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
S_TKc
|
43 |
331 |
3.3e-97 |
SMART |
|
Blast:S_TKc
|
335 |
372 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091328
|
| SMART Domains |
Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
213 |
2.5e-24 |
PFAM |
|
Pfam:Pkinase
|
1 |
216 |
2.2e-58 |
PFAM |
|
Pfam:APH
|
17 |
108 |
7.6e-7 |
PFAM |
|
Blast:S_TKc
|
220 |
257 |
4e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205657
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
| Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
| Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
| Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
| Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
| Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
| Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
| Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
| Other mutations in Gdpd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Gdpd3
|
APN |
7 |
126,366,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL01433:Gdpd3
|
APN |
7 |
126,370,356 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01465:Gdpd3
|
APN |
7 |
126,367,829 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01736:Gdpd3
|
APN |
7 |
126,365,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4431001:Gdpd3
|
UTSW |
7 |
126,365,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0118:Gdpd3
|
UTSW |
7 |
126,370,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0311:Gdpd3
|
UTSW |
7 |
126,366,361 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2049:Gdpd3
|
UTSW |
7 |
126,367,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4976:Gdpd3
|
UTSW |
7 |
126,366,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Gdpd3
|
UTSW |
7 |
126,374,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6170:Gdpd3
|
UTSW |
7 |
126,370,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6898:Gdpd3
|
UTSW |
7 |
126,370,201 (GRCm39) |
nonsense |
probably null |
|
|
R8236:Gdpd3
|
UTSW |
7 |
126,367,838 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2013-06-21 |
Incidental Mutation