Incidental Mutation 'IGL02822:Gdpd4'
| ID |
361052 |
| 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 # |
IGL02822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97569162-97698870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97621131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000170049]
|
| AlphaFold |
Q3TT99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041860
AA Change: V148A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036772
Gene: ENSMUSG00000035582
AA Change: V148A
| 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 |
possibly damaging
Transcript: ENSMUST00000170049
AA Change: V148A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131960
Gene: ENSMUSG00000035582
AA Change: V148A
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
C |
16: 88,971,683 (GRCm39) |
C2R |
unknown |
Het |
| Aldh1a7 |
A |
G |
19: 20,679,630 (GRCm39) |
V382A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,911 (GRCm39) |
V943A |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,951,688 (GRCm39) |
V2908M |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,630,017 (GRCm39) |
T471I |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,262,968 (GRCm39) |
Y57C |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,600 (GRCm39) |
Y405H |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,520 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
C |
8: 4,237,248 (GRCm39) |
I117T |
probably damaging |
Het |
| Fbxw5 |
A |
G |
2: 25,393,022 (GRCm39) |
N164S |
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,789 (GRCm39) |
E388G |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,818 (GRCm39) |
T55A |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,422,442 (GRCm39) |
V137D |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,601,379 (GRCm39) |
H117R |
possibly damaging |
Het |
| Htr4 |
T |
A |
18: 62,561,255 (GRCm39) |
|
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,191 (GRCm39) |
V8A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,288 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
G |
T |
6: 129,993,673 (GRCm39) |
Y199* |
probably null |
Het |
| Matcap1 |
T |
C |
8: 106,011,330 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,277,828 (GRCm39) |
D333N |
possibly damaging |
Het |
| Mocs1 |
T |
C |
17: 49,746,597 (GRCm39) |
F189S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,923,211 (GRCm39) |
A1849T |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,875,214 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
T |
3: 55,926,868 (GRCm39) |
H778Q |
possibly damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,068,726 (GRCm39) |
P209L |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,019 (GRCm39) |
D276G |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,534 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,444 (GRCm39) |
L84P |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,930,118 (GRCm39) |
S258P |
probably damaging |
Het |
| Pclaf |
A |
G |
9: 65,808,875 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,917 (GRCm39) |
T549S |
possibly damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,285,517 (GRCm39) |
C699F |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,511,848 (GRCm39) |
Y120C |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,204 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,587,606 (GRCm39) |
S720P |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,400,633 (GRCm39) |
H301R |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,905,015 (GRCm39) |
W1316L |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,901,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation