Incidental Mutation 'IGL02585:Gdpd1'
| ID |
299519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gdpd1
|
| Ensembl Gene |
ENSMUSG00000061666 |
| Gene Name |
glycerophosphodiester phosphodiesterase domain containing 1 |
| Synonyms |
2610020H15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86924693-86964888 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 86964802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000020804]
[ENSMUST00000143280]
|
| AlphaFold |
Q9CRY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020801
|
| SMART Domains |
Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
|
Pfam:DUF2146
|
41 |
985 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020804
AA Change: M1K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
45 |
204 |
1.2e-26 |
PFAM |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134275
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143280
|
| SMART Domains |
Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2146
|
1 |
269 |
2.9e-89 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,067,644 (GRCm39) |
V292M |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,150,431 (GRCm39) |
I69F |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,025 (GRCm39) |
Q381R |
probably benign |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,166,135 (GRCm39) |
D212G |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,679 (GRCm39) |
T82A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Gdpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02279:Gdpd1
|
APN |
11 |
86,964,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4687001:Gdpd1
|
UTSW |
11 |
86,950,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0947:Gdpd1
|
UTSW |
11 |
86,928,707 (GRCm39) |
missense |
probably benign |
|
|
R1454:Gdpd1
|
UTSW |
11 |
86,950,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2086:Gdpd1
|
UTSW |
11 |
86,926,094 (GRCm39) |
missense |
probably benign |
|
|
R2183:Gdpd1
|
UTSW |
11 |
86,926,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Gdpd1
|
UTSW |
11 |
86,926,114 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5517:Gdpd1
|
UTSW |
11 |
86,950,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Gdpd1
|
UTSW |
11 |
86,926,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Gdpd1
|
UTSW |
11 |
86,932,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8788:Gdpd1
|
UTSW |
11 |
86,950,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Gdpd1
|
UTSW |
11 |
86,936,009 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9507:Gdpd1
|
UTSW |
11 |
86,950,264 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation