Incidental Mutation 'IGL00517:Gdpd4'
ID |
6278 |
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: 0.058)
|
Stock # |
IGL00517
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
97569162-97698870 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97653478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 497
(I497T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000170049]
|
AlphaFold |
Q3TT99 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041860
AA Change: I497T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036772 Gene: ENSMUSG00000035582 AA Change: I497T
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 damaging
Transcript: ENSMUST00000170049
AA Change: I497T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131960 Gene: ENSMUSG00000035582 AA Change: I497T
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
C |
T |
7: 101,037,256 (GRCm39) |
R180W |
probably damaging |
Het |
Atg4a |
T |
A |
X: 139,945,488 (GRCm39) |
M345K |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,015,077 (GRCm39) |
V408A |
probably damaging |
Het |
Ccdc141 |
C |
T |
2: 76,884,988 (GRCm39) |
G551D |
probably damaging |
Het |
Cdh2 |
A |
C |
18: 16,760,693 (GRCm39) |
V558G |
possibly damaging |
Het |
Col9a1 |
T |
A |
1: 24,234,615 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
T |
A |
18: 84,977,225 (GRCm39) |
F46I |
probably damaging |
Het |
Gtf2f2 |
A |
G |
14: 76,232,941 (GRCm39) |
V75A |
probably benign |
Het |
Hpse |
T |
C |
5: 100,839,196 (GRCm39) |
H384R |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 27,073,326 (GRCm39) |
T1044S |
probably benign |
Het |
Lamp2 |
T |
C |
X: 37,545,186 (GRCm39) |
|
probably benign |
Het |
Lipe |
C |
A |
7: 25,087,985 (GRCm39) |
|
probably null |
Het |
Marf1 |
T |
C |
16: 13,933,606 (GRCm39) |
E1594G |
possibly damaging |
Het |
Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
Patj |
G |
T |
4: 98,329,308 (GRCm39) |
V521F |
possibly damaging |
Het |
Prkg1 |
A |
T |
19: 30,872,068 (GRCm39) |
D242E |
probably benign |
Het |
Qsox2 |
T |
C |
2: 26,112,267 (GRCm39) |
I92V |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,852,534 (GRCm39) |
Y367H |
probably damaging |
Het |
Rpl21-ps4 |
T |
C |
14: 11,227,544 (GRCm38) |
|
noncoding transcript |
Het |
Sigirr |
T |
C |
7: 140,672,147 (GRCm39) |
E266G |
probably benign |
Het |
Slitrk6 |
T |
C |
14: 110,988,547 (GRCm39) |
T387A |
probably benign |
Het |
Smim22 |
T |
C |
16: 4,825,860 (GRCm39) |
L54P |
probably damaging |
Het |
Taf4 |
G |
A |
2: 179,566,206 (GRCm39) |
|
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,259,967 (GRCm39) |
V363A |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,663,011 (GRCm39) |
L497S |
probably damaging |
Het |
|
Other mutations in Gdpd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01292:Gdpd4
|
APN |
7 |
97,664,161 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-04-20 |