Incidental Mutation 'IGL01067:Pld5'
| ID |
50190 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pld5
|
| Ensembl Gene |
ENSMUSG00000055214 |
| Gene Name |
phospholipase D family member 5 |
| Synonyms |
B230365F16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 176102445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000111166]
[ENSMUST00000125404]
|
| AlphaFold |
Q3UNN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065967
|
| SMART Domains |
Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
PLDc
|
215 |
242 |
3.62e-3 |
SMART |
|
Pfam:PLDc_3
|
245 |
421 |
2e-101 |
PFAM |
|
PLDc
|
434 |
460 |
6.11e0 |
SMART |
|
low complexity region
|
511 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125404
|
| SMART Domains |
Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193484
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
| Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
| Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
| Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
| Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
| Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
| Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
| Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
| Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
| Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
| Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
| Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
| Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
| Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pld5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Pld5
|
APN |
1 |
175,967,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00949:Pld5
|
APN |
1 |
175,803,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Pld5
|
APN |
1 |
176,102,310 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02380:Pld5
|
APN |
1 |
175,967,610 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02879:Pld5
|
APN |
1 |
175,798,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Pld5
|
UTSW |
1 |
175,812,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0135:Pld5
|
UTSW |
1 |
175,798,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Pld5
|
UTSW |
1 |
175,798,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Pld5
|
UTSW |
1 |
175,803,146 (GRCm39) |
nonsense |
probably null |
|
|
R0453:Pld5
|
UTSW |
1 |
175,917,522 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0454:Pld5
|
UTSW |
1 |
176,102,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0722:Pld5
|
UTSW |
1 |
175,803,081 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0751:Pld5
|
UTSW |
1 |
175,872,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0785:Pld5
|
UTSW |
1 |
175,803,018 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Pld5
|
UTSW |
1 |
175,872,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1501:Pld5
|
UTSW |
1 |
175,803,087 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1644:Pld5
|
UTSW |
1 |
175,803,192 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2012:Pld5
|
UTSW |
1 |
175,791,579 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2426:Pld5
|
UTSW |
1 |
175,791,542 (GRCm39) |
missense |
probably benign |
|
|
R3508:Pld5
|
UTSW |
1 |
175,821,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Pld5
|
UTSW |
1 |
175,791,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Pld5
|
UTSW |
1 |
175,821,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Pld5
|
UTSW |
1 |
175,967,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Pld5
|
UTSW |
1 |
176,102,433 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4831:Pld5
|
UTSW |
1 |
176,102,450 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5861:Pld5
|
UTSW |
1 |
175,917,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Pld5
|
UTSW |
1 |
175,872,420 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6191:Pld5
|
UTSW |
1 |
175,798,100 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6246:Pld5
|
UTSW |
1 |
175,791,475 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Pld5
|
UTSW |
1 |
175,917,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Pld5
|
UTSW |
1 |
175,917,442 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7164:Pld5
|
UTSW |
1 |
176,041,187 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7237:Pld5
|
UTSW |
1 |
176,102,301 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7635:Pld5
|
UTSW |
1 |
175,821,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7805:Pld5
|
UTSW |
1 |
175,872,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Pld5
|
UTSW |
1 |
176,102,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8038:Pld5
|
UTSW |
1 |
175,872,463 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8995:Pld5
|
UTSW |
1 |
175,791,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9033:Pld5
|
UTSW |
1 |
175,967,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9067:Pld5
|
UTSW |
1 |
175,917,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Pld5
|
UTSW |
1 |
175,902,003 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9156:Pld5
|
UTSW |
1 |
175,803,104 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9712:Pld5
|
UTSW |
1 |
175,791,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0004:Pld5
|
UTSW |
1 |
176,089,088 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation