Incidental Mutation 'IGL00570:Pld4'
| ID |
13045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pld4
|
| Ensembl Gene |
ENSMUSG00000052160 |
| Gene Name |
phospholipase D family member 4 |
| Synonyms |
thss |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112729925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 69
(F69S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
|
| AlphaFold |
Q8BG07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063888
AA Change: F69S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: F69S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
PLDc
|
207 |
234 |
1.64e-10 |
SMART |
|
Pfam:PLDc_3
|
237 |
414 |
5.5e-41 |
PFAM |
|
PLDc
|
421 |
447 |
4.66e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222886
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,000,073 (GRCm39) |
I1014V |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,626,028 (GRCm39) |
T99A |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,667,176 (GRCm39) |
I610F |
possibly damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,088 (GRCm39) |
T175A |
possibly damaging |
Het |
| Col25a1 |
C |
T |
3: 130,340,081 (GRCm39) |
|
probably benign |
Het |
| Dlat |
A |
T |
9: 50,556,332 (GRCm39) |
|
probably benign |
Het |
| Enah |
T |
C |
1: 181,763,261 (GRCm39) |
|
probably benign |
Het |
| Gm29253 |
T |
C |
1: 75,151,118 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,074,138 (GRCm39) |
Y337F |
probably damaging |
Het |
| Gsto1 |
T |
C |
19: 47,846,375 (GRCm39) |
V74A |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,526,218 (GRCm39) |
F46L |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,077,174 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,735,719 (GRCm39) |
S3462G |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,830 (GRCm39) |
Y207C |
possibly damaging |
Het |
| Nat10 |
T |
A |
2: 103,556,109 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
A |
C |
2: 127,605,805 (GRCm39) |
V340G |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,326,545 (GRCm39) |
G1170E |
probably benign |
Het |
| Plcg1 |
T |
A |
2: 160,599,186 (GRCm39) |
V878E |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,314,486 (GRCm39) |
I1733T |
probably damaging |
Het |
| Slc6a2 |
T |
C |
8: 93,723,685 (GRCm39) |
V601A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,574 (GRCm39) |
I438T |
possibly damaging |
Het |
| Unc93a |
C |
A |
17: 13,339,643 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
G |
A |
11: 73,976,631 (GRCm39) |
A967T |
probably benign |
Het |
|
| Other mutations in Pld4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01839:Pld4
|
APN |
12 |
112,731,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Pld4
|
APN |
12 |
112,734,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02253:Pld4
|
APN |
12 |
112,733,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Pld4
|
APN |
12 |
112,733,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03278:Pld4
|
APN |
12 |
112,733,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03349:Pld4
|
APN |
12 |
112,734,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
Lipodicum
|
UTSW |
12 |
112,731,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Pld4
|
UTSW |
12 |
112,734,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pld4
|
UTSW |
12 |
112,734,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Pld4
|
UTSW |
12 |
112,734,291 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1078:Pld4
|
UTSW |
12 |
112,729,876 (GRCm39) |
missense |
probably benign |
|
|
R1756:Pld4
|
UTSW |
12 |
112,729,826 (GRCm39) |
splice site |
probably null |
|
|
R2006:Pld4
|
UTSW |
12 |
112,734,923 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2037:Pld4
|
UTSW |
12 |
112,734,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Pld4
|
UTSW |
12 |
112,734,469 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4630:Pld4
|
UTSW |
12 |
112,731,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Pld4
|
UTSW |
12 |
112,730,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5008:Pld4
|
UTSW |
12 |
112,734,484 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5263:Pld4
|
UTSW |
12 |
112,731,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Pld4
|
UTSW |
12 |
112,735,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Pld4
|
UTSW |
12 |
112,730,422 (GRCm39) |
nonsense |
probably null |
|
|
R5513:Pld4
|
UTSW |
12 |
112,728,988 (GRCm39) |
missense |
probably benign |
|
|
R5788:Pld4
|
UTSW |
12 |
112,730,551 (GRCm39) |
missense |
probably benign |
|
|
R6085:Pld4
|
UTSW |
12 |
112,733,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6157:Pld4
|
UTSW |
12 |
112,734,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Pld4
|
UTSW |
12 |
112,731,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Pld4
|
UTSW |
12 |
112,730,549 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6962:Pld4
|
UTSW |
12 |
112,733,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7864:Pld4
|
UTSW |
12 |
112,731,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Pld4
|
UTSW |
12 |
112,729,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Pld4
|
UTSW |
12 |
112,733,210 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9790:Pld4
|
UTSW |
12 |
112,734,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Pld4
|
UTSW |
12 |
112,734,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation