Incidental Mutation 'IGL01839:Pld4'
| ID |
155062 |
| 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 # |
IGL01839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112731513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 222
(H222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
|
| AlphaFold |
Q8BG07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063888
AA Change: H222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: H222L
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
A |
12: 113,508,242 (GRCm39) |
L205Q |
probably benign |
Het |
| Cadps |
G |
T |
14: 12,467,184 (GRCm38) |
|
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,676,027 (GRCm39) |
Q223* |
probably null |
Het |
| Col11a2 |
G |
A |
17: 34,283,056 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,350,990 (GRCm39) |
V28A |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,110 (GRCm39) |
I177T |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,782 (GRCm39) |
L274P |
probably damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,732,971 (GRCm39) |
R431G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,168 (GRCm39) |
N2278S |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,423,694 (GRCm39) |
A756E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,909 (GRCm39) |
Y1087C |
probably damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,453,943 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
A |
G |
5: 124,589,417 (GRCm39) |
K205R |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,607,975 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
T |
C |
12: 84,840,432 (GRCm39) |
S1045G |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,228,607 (GRCm39) |
M505V |
probably benign |
Het |
| Oit3 |
C |
T |
10: 59,265,318 (GRCm39) |
V316I |
probably damaging |
Het |
| Or1e1f |
T |
A |
11: 73,855,437 (GRCm39) |
M1K |
probably null |
Het |
| Or5b119 |
T |
C |
19: 13,456,804 (GRCm39) |
T253A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,502 (GRCm39) |
N294I |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,421,394 (GRCm39) |
|
probably benign |
Het |
| Sgms2 |
T |
C |
3: 131,135,751 (GRCm39) |
K41R |
possibly damaging |
Het |
| Slc22a4 |
A |
T |
11: 53,886,903 (GRCm39) |
S280T |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 23,996,668 (GRCm39) |
S58P |
possibly damaging |
Het |
| Slc7a15 |
C |
T |
12: 8,589,365 (GRCm39) |
G61S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,685 (GRCm39) |
K2190E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,644,702 (GRCm39) |
Q13017H |
probably damaging |
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 |
|
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 |
2014-02-04 |
Incidental Mutation