Incidental Mutation 'IGL03291:Gdpd5'
| ID |
415923 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gdpd5
|
| Ensembl Gene |
ENSMUSG00000035314 |
| Gene Name |
glycerophosphodiester phosphodiesterase domain containing 5 |
| Synonyms |
Gde2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99030621-99111084 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 99109328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037528]
[ENSMUST00000213887]
|
| AlphaFold |
Q640M6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037528
|
| SMART Domains |
Protein: ENSMUSP00000036175
Gene: ENSMUSG00000035314
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
127 |
146 |
N/A |
INTRINSIC |
|
transmembrane domain
|
161 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
233 |
380 |
9.8e-17 |
PFAM |
|
transmembrane domain
|
498 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213887
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired motor neuron differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,610,081 (GRCm39) |
V364A |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,909,662 (GRCm39) |
I378V |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Glcci1 |
T |
A |
6: 8,579,678 (GRCm39) |
I293K |
probably damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Megf9 |
C |
T |
4: 70,406,387 (GRCm39) |
V260I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,923 (GRCm39) |
F254L |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
probably damaging |
Het |
|
| Other mutations in Gdpd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0149:Gdpd5
|
UTSW |
7 |
99,107,997 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0361:Gdpd5
|
UTSW |
7 |
99,107,997 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0811:Gdpd5
|
UTSW |
7 |
99,087,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Gdpd5
|
UTSW |
7 |
99,087,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Gdpd5
|
UTSW |
7 |
99,097,720 (GRCm39) |
missense |
probably benign |
|
|
R1864:Gdpd5
|
UTSW |
7 |
99,098,206 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1885:Gdpd5
|
UTSW |
7 |
99,109,204 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2099:Gdpd5
|
UTSW |
7 |
99,097,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Gdpd5
|
UTSW |
7 |
99,103,779 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3913:Gdpd5
|
UTSW |
7 |
99,087,546 (GRCm39) |
missense |
probably null |
0.23 |
|
R5198:Gdpd5
|
UTSW |
7 |
99,087,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Gdpd5
|
UTSW |
7 |
99,102,234 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7356:Gdpd5
|
UTSW |
7 |
99,108,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Gdpd5
|
UTSW |
7 |
99,073,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Gdpd5
|
UTSW |
7 |
99,103,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Gdpd5
|
UTSW |
7 |
99,105,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8506:Gdpd5
|
UTSW |
7 |
99,103,157 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8725:Gdpd5
|
UTSW |
7 |
99,105,726 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8936:Gdpd5
|
UTSW |
7 |
99,109,199 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8977:Gdpd5
|
UTSW |
7 |
99,103,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9068:Gdpd5
|
UTSW |
7 |
99,108,048 (GRCm39) |
missense |
probably benign |
|
|
R9213:Gdpd5
|
UTSW |
7 |
99,100,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Gdpd5
|
UTSW |
7 |
99,107,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9274:Gdpd5
|
UTSW |
7 |
99,107,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9489:Gdpd5
|
UTSW |
7 |
99,103,031 (GRCm39) |
missense |
|
|
|
R9525:Gdpd5
|
UTSW |
7 |
99,104,156 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9647:Gdpd5
|
UTSW |
7 |
99,104,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation