Incidental Mutation 'R0311:Gdpd3'
ID |
65238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gdpd3
|
Ensembl Gene |
ENSMUSG00000030703 |
Gene Name |
glycerophosphodiester phosphodiesterase domain containing 3 |
Synonyms |
1110015E22Rik |
MMRRC Submission |
038521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0311 (G1)
|
Quality Score |
113 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126365586-126374817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 126366361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 66
(R66Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032944]
[ENSMUST00000050201]
[ENSMUST00000057669]
[ENSMUST00000091328]
|
AlphaFold |
Q99LY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032944
AA Change: R66Q
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032944 Gene: ENSMUSG00000030703 AA Change: R66Q
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 |
probably benign
Transcript: ENSMUST00000205657
|
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
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 |
|
IGL01113:Gdpd3
|
APN |
7 |
126,366,997 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTCCAAGCCCCATCAAGTTCC -3'
(R):5'- GCGTGAAAGTGATGCAGCTCTCAG -3'
Sequencing Primer
(F):5'- CCCATCAAGTTCCATGTGAGG -3'
(R):5'- CAGCTCTCAGTGTGAGGGG -3'
|
Posted On |
2013-08-08 |