Incidental Mutation 'IGL01954:Pld4'
| ID |
181395 |
| 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 # |
IGL01954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 112734355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
[ENSMUST00000101010]
[ENSMUST00000128258]
|
| AlphaFold |
Q8BG07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063888
|
| SMART Domains |
Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
| 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 |
probably benign
Transcript: ENSMUST00000101010
|
| SMART Domains |
Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128258
|
| SMART Domains |
Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
66 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
67 |
251 |
2.35e-83 |
PROSPERO |
|
low complexity region
|
285 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
389 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
413 |
597 |
2.35e-83 |
PROSPERO |
|
low complexity region
|
734 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1181 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1523 |
1539 |
N/A |
INTRINSIC |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Bcr |
G |
A |
10: 75,011,173 (GRCm39) |
|
probably null |
Het |
| Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
| Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,253,001 (GRCm39) |
I590N |
probably damaging |
Het |
| Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
| Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 157,005,269 (GRCm39) |
S227P |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,003,686 (GRCm39) |
D324E |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,139,341 (GRCm39) |
F92S |
possibly damaging |
Het |
| Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,819,441 (GRCm39) |
N125S |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
| Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
| Zbtb32 |
G |
T |
7: 30,289,353 (GRCm39) |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation