Incidental Mutation 'IGL00846:Plpp5'
| ID |
13106 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plpp5
|
| Ensembl Gene |
ENSMUSG00000031570 |
| Gene Name |
phospholipid phosphatase 5 |
| Synonyms |
2310022A04Rik, Ppapdc1b, 1810019D05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL00846
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26210064-26214914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26210585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 59
(I59F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033975]
[ENSMUST00000068916]
[ENSMUST00000084026]
[ENSMUST00000124764]
[ENSMUST00000133117]
[ENSMUST00000138548]
[ENSMUST00000139836]
[ENSMUST00000145678]
[ENSMUST00000210629]
[ENSMUST00000142395]
|
| AlphaFold |
Q3UMZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033975
|
| SMART Domains |
Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
Pfam:WWE
|
40 |
112 |
7.5e-9 |
PFAM |
|
Blast:DDHD
|
285 |
357 |
6e-28 |
BLAST |
|
SAM
|
382 |
447 |
1.13e-11 |
SMART |
|
DDHD
|
484 |
688 |
6.63e-75 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068916
AA Change: I59F
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
85 |
224 |
3.08e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084026
|
| SMART Domains |
Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000124764
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133117
AA Change: I59F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138548
AA Change: H11L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138879
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139836
AA Change: I59F
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
85 |
214 |
3.98e-13 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000145678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142395
|
| SMART Domains |
Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
| Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
| Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
| Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
| Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
| Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
| Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
| Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
| Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Plpp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Plpp5
|
APN |
8 |
26,214,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02539:Plpp5
|
APN |
8 |
26,214,215 (GRCm39) |
missense |
probably benign |
|
|
IGL02807:Plpp5
|
APN |
8 |
26,211,192 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Plpp5
|
UTSW |
8 |
26,214,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Plpp5
|
UTSW |
8 |
26,212,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4009:Plpp5
|
UTSW |
8 |
26,210,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Plpp5
|
UTSW |
8 |
26,210,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7178:Plpp5
|
UTSW |
8 |
26,210,606 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7529:Plpp5
|
UTSW |
8 |
26,214,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9075:Plpp5
|
UTSW |
8 |
26,210,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation