Incidental Mutation 'IGL00815:Pld5'
| ID |
13046 |
| 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 # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 175967585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 28
(D28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000111167]
[ENSMUST00000125404]
|
| AlphaFold |
Q3UNN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065967
AA Change: D90A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: D90A
| 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 damaging
Transcript: ENSMUST00000111167
AA Change: D28A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: D28A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PLDc
|
153 |
180 |
3.62e-3 |
SMART |
|
PLDc
|
372 |
398 |
6.11e0 |
SMART |
|
low complexity region
|
449 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125404
AA Change: D90A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214
AA Change: D90A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156184
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Pld5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Pld5
|
APN |
1 |
175,803,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01067:Pld5
|
APN |
1 |
176,102,445 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation