Incidental Mutation 'IGL02253:Pld4'
ID |
286515 |
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 # |
IGL02253
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 112733141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 239
(K239T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
|
AlphaFold |
Q8BG07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063888
AA Change: K239T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067002 Gene: ENSMUSG00000052160 AA Change: K239T
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
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 |
|
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 |
2015-04-16 |