Incidental Mutation 'IGL01292:Gdpd4'
ID |
72961 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gdpd4
|
Ensembl Gene |
ENSMUSG00000035582 |
Gene Name |
glycerophosphodiester phosphodiesterase domain containing 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01292
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
97569162-97698870 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 97664161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000170049]
|
AlphaFold |
Q3TT99 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041860
|
SMART Domains |
Protein: ENSMUSP00000036772 Gene: ENSMUSG00000035582
Domain | Start | End | E-Value | Type |
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
Pfam:GDPD
|
281 |
440 |
1.4e-19 |
PFAM |
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170049
|
SMART Domains |
Protein: ENSMUSP00000131960 Gene: ENSMUSG00000035582
Domain | Start | End | E-Value | Type |
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
Pfam:GDPD
|
281 |
439 |
3.4e-21 |
PFAM |
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
Other mutations in Gdpd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Gdpd4
|
APN |
7 |
97,653,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01317:Gdpd4
|
APN |
7 |
97,647,465 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02678:Gdpd4
|
APN |
7 |
97,623,584 (GRCm39) |
splice site |
probably benign |
|
IGL02822:Gdpd4
|
APN |
7 |
97,621,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02987:Gdpd4
|
APN |
7 |
97,610,758 (GRCm39) |
splice site |
probably benign |
|
R0022:Gdpd4
|
UTSW |
7 |
97,632,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0331:Gdpd4
|
UTSW |
7 |
97,622,215 (GRCm39) |
missense |
probably benign |
0.11 |
R0882:Gdpd4
|
UTSW |
7 |
97,615,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R1425:Gdpd4
|
UTSW |
7 |
97,623,219 (GRCm39) |
missense |
probably benign |
0.03 |
R1469:Gdpd4
|
UTSW |
7 |
97,623,673 (GRCm39) |
splice site |
probably null |
|
R1469:Gdpd4
|
UTSW |
7 |
97,623,673 (GRCm39) |
splice site |
probably null |
|
R1870:Gdpd4
|
UTSW |
7 |
97,622,162 (GRCm39) |
missense |
probably benign |
0.00 |
R4747:Gdpd4
|
UTSW |
7 |
97,610,840 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5017:Gdpd4
|
UTSW |
7 |
97,653,482 (GRCm39) |
nonsense |
probably null |
|
R5208:Gdpd4
|
UTSW |
7 |
97,664,118 (GRCm39) |
missense |
probably benign |
0.11 |
R5290:Gdpd4
|
UTSW |
7 |
97,615,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5398:Gdpd4
|
UTSW |
7 |
97,621,185 (GRCm39) |
missense |
probably benign |
0.00 |
R5605:Gdpd4
|
UTSW |
7 |
97,655,507 (GRCm39) |
missense |
probably benign |
0.41 |
R5715:Gdpd4
|
UTSW |
7 |
97,610,804 (GRCm39) |
missense |
probably benign |
0.00 |
R5990:Gdpd4
|
UTSW |
7 |
97,690,137 (GRCm39) |
missense |
probably benign |
0.00 |
R6269:Gdpd4
|
UTSW |
7 |
97,623,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Gdpd4
|
UTSW |
7 |
97,623,160 (GRCm39) |
missense |
probably damaging |
0.98 |
R6817:Gdpd4
|
UTSW |
7 |
97,607,037 (GRCm39) |
missense |
probably benign |
0.00 |
R6884:Gdpd4
|
UTSW |
7 |
97,621,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Gdpd4
|
UTSW |
7 |
97,623,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R7575:Gdpd4
|
UTSW |
7 |
97,647,448 (GRCm39) |
missense |
probably benign |
0.00 |
R7582:Gdpd4
|
UTSW |
7 |
97,607,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7694:Gdpd4
|
UTSW |
7 |
97,621,146 (GRCm39) |
missense |
probably benign |
0.24 |
R7867:Gdpd4
|
UTSW |
7 |
97,623,185 (GRCm39) |
nonsense |
probably null |
|
R8145:Gdpd4
|
UTSW |
7 |
97,690,077 (GRCm39) |
missense |
probably benign |
0.00 |
R8169:Gdpd4
|
UTSW |
7 |
97,621,335 (GRCm39) |
missense |
probably benign |
0.03 |
R8692:Gdpd4
|
UTSW |
7 |
97,690,140 (GRCm39) |
missense |
probably benign |
0.00 |
R9211:Gdpd4
|
UTSW |
7 |
97,615,466 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9286:Gdpd4
|
UTSW |
7 |
97,647,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Gdpd4
|
UTSW |
7 |
97,607,074 (GRCm39) |
missense |
probably benign |
0.00 |
R9529:Gdpd4
|
UTSW |
7 |
97,610,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9563:Gdpd4
|
UTSW |
7 |
97,649,369 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Gdpd4
|
UTSW |
7 |
97,615,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-10-07 |