Incidental Mutation 'IGL03278:Pld4'
ID |
415483 |
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 # |
IGL03278
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112733165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 247
(N247S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
|
AlphaFold |
Q8BG07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063888
AA Change: N247S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067002 Gene: ENSMUSG00000052160 AA Change: N247S
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pld4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00570:Pld4
|
APN |
12 |
112,729,925 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
2016-08-02 |