Incidental Mutation 'R5649:Plbd1'
ID |
441316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plbd1
|
Ensembl Gene |
ENSMUSG00000030214 |
Gene Name |
phospholipase B domain containing 1 |
Synonyms |
1100001H23Rik |
MMRRC Submission |
043170-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5649 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
136589068-136638926 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 136593987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 376
(Y376F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032336]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032336
AA Change: Y376F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000032336 Gene: ENSMUSG00000030214 AA Change: Y376F
Domain | Start | End | E-Value | Type |
Pfam:Phospholip_B
|
16 |
545 |
3.7e-198 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204462
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,330,501 (GRCm39) |
T1385A |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,149,972 (GRCm39) |
D1646E |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
Atl3 |
C |
A |
19: 7,509,592 (GRCm39) |
T435N |
possibly damaging |
Het |
Cdh22 |
G |
T |
2: 164,958,200 (GRCm39) |
T589K |
probably damaging |
Het |
Cnot3 |
T |
C |
7: 3,661,082 (GRCm39) |
L561S |
probably benign |
Het |
Col5a1 |
A |
G |
2: 27,841,468 (GRCm39) |
D363G |
unknown |
Het |
Cyp24a1 |
T |
C |
2: 170,338,229 (GRCm39) |
D105G |
possibly damaging |
Het |
Dennd4a |
C |
A |
9: 64,758,491 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 31,019,561 (GRCm39) |
K3878R |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,894,539 (GRCm39) |
S1900P |
probably benign |
Het |
Fancg |
A |
G |
4: 43,008,736 (GRCm39) |
L167P |
probably damaging |
Het |
Ighd2-8 |
A |
G |
12: 113,414,487 (GRCm39) |
S1P |
possibly damaging |
Het |
Kif28 |
A |
G |
1: 179,525,336 (GRCm39) |
|
probably null |
Het |
Mrpl55 |
T |
A |
11: 59,095,397 (GRCm39) |
C20* |
probably null |
Het |
Myo5a |
A |
G |
9: 75,079,001 (GRCm39) |
K920E |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Olfm3 |
A |
G |
3: 114,890,573 (GRCm39) |
R76G |
probably damaging |
Het |
Or14a258 |
T |
C |
7: 86,035,521 (GRCm39) |
M116V |
probably damaging |
Het |
Or2ag1 |
T |
C |
7: 106,313,373 (GRCm39) |
R172G |
possibly damaging |
Het |
Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
Phf11c |
T |
C |
14: 59,622,981 (GRCm39) |
|
probably null |
Het |
Phf20 |
T |
A |
2: 156,093,688 (GRCm39) |
|
probably null |
Het |
Poglut1 |
A |
G |
16: 38,352,173 (GRCm39) |
V257A |
probably damaging |
Het |
Reln |
A |
G |
5: 22,106,623 (GRCm39) |
I3249T |
probably benign |
Het |
Rgsl1 |
G |
A |
1: 153,701,639 (GRCm39) |
P272S |
possibly damaging |
Het |
Slc15a2 |
A |
T |
16: 36,592,472 (GRCm39) |
Y197* |
probably null |
Het |
Slc45a2 |
C |
T |
15: 11,012,693 (GRCm39) |
T232I |
probably benign |
Het |
Ssc5d |
T |
A |
7: 4,929,517 (GRCm39) |
|
probably null |
Het |
Thbs2 |
T |
C |
17: 14,910,215 (GRCm39) |
Y128C |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,238,851 (GRCm39) |
L219F |
possibly damaging |
Het |
Tmem30b |
G |
T |
12: 73,592,940 (GRCm39) |
N58K |
probably benign |
Het |
Trappc2b |
T |
C |
11: 51,576,799 (GRCm39) |
E33G |
probably benign |
Het |
Ttc29 |
G |
A |
8: 78,972,942 (GRCm39) |
E131K |
possibly damaging |
Het |
Vmn1r29 |
C |
G |
6: 58,284,676 (GRCm39) |
S132C |
probably benign |
Het |
Vmn1r53 |
G |
A |
6: 90,200,742 (GRCm39) |
A194V |
probably benign |
Het |
Wdr86 |
A |
T |
5: 24,923,085 (GRCm39) |
H202Q |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,347,239 (GRCm39) |
D3160G |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,982 (GRCm39) |
D520G |
probably benign |
Het |
Zfp607b |
T |
G |
7: 27,403,406 (GRCm39) |
C621G |
probably damaging |
Het |
|
Other mutations in Plbd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00753:Plbd1
|
APN |
6 |
136,611,468 (GRCm39) |
missense |
probably benign |
|
IGL02131:Plbd1
|
APN |
6 |
136,638,681 (GRCm39) |
utr 5 prime |
probably benign |
|
R0355:Plbd1
|
UTSW |
6 |
136,618,165 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0762:Plbd1
|
UTSW |
6 |
136,618,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R1019:Plbd1
|
UTSW |
6 |
136,628,903 (GRCm39) |
missense |
probably benign |
0.03 |
R1456:Plbd1
|
UTSW |
6 |
136,590,814 (GRCm39) |
missense |
probably benign |
0.12 |
R1607:Plbd1
|
UTSW |
6 |
136,589,304 (GRCm39) |
missense |
probably benign |
0.04 |
R1640:Plbd1
|
UTSW |
6 |
136,617,123 (GRCm39) |
missense |
probably benign |
0.00 |
R2166:Plbd1
|
UTSW |
6 |
136,590,788 (GRCm39) |
critical splice donor site |
probably null |
|
R2909:Plbd1
|
UTSW |
6 |
136,611,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R4494:Plbd1
|
UTSW |
6 |
136,590,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4529:Plbd1
|
UTSW |
6 |
136,628,823 (GRCm39) |
missense |
probably benign |
0.04 |
R4530:Plbd1
|
UTSW |
6 |
136,628,823 (GRCm39) |
missense |
probably benign |
0.04 |
R5206:Plbd1
|
UTSW |
6 |
136,618,154 (GRCm39) |
missense |
probably benign |
0.17 |
R5272:Plbd1
|
UTSW |
6 |
136,617,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5522:Plbd1
|
UTSW |
6 |
136,594,298 (GRCm39) |
missense |
probably benign |
0.31 |
R5879:Plbd1
|
UTSW |
6 |
136,611,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5940:Plbd1
|
UTSW |
6 |
136,590,719 (GRCm39) |
intron |
probably benign |
|
R6311:Plbd1
|
UTSW |
6 |
136,590,945 (GRCm39) |
missense |
probably benign |
0.09 |
R6590:Plbd1
|
UTSW |
6 |
136,612,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Plbd1
|
UTSW |
6 |
136,594,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R6690:Plbd1
|
UTSW |
6 |
136,612,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6842:Plbd1
|
UTSW |
6 |
136,612,612 (GRCm39) |
missense |
probably benign |
0.05 |
R6938:Plbd1
|
UTSW |
6 |
136,593,985 (GRCm39) |
missense |
probably benign |
0.00 |
R7000:Plbd1
|
UTSW |
6 |
136,589,836 (GRCm39) |
missense |
probably benign |
0.21 |
R7214:Plbd1
|
UTSW |
6 |
136,589,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Plbd1
|
UTSW |
6 |
136,628,864 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7744:Plbd1
|
UTSW |
6 |
136,594,244 (GRCm39) |
missense |
probably benign |
0.00 |
R7870:Plbd1
|
UTSW |
6 |
136,594,326 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9275:Plbd1
|
UTSW |
6 |
136,594,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R9443:Plbd1
|
UTSW |
6 |
136,611,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Plbd1
|
UTSW |
6 |
136,589,244 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTACCAGGATGCCCGTCAC -3'
(R):5'- CTATGTGCCTATGTCTAGCCTTACAG -3'
Sequencing Primer
(F):5'- AAGTGGTGTCATAGTAGCTCACCC -3'
(R):5'- GCCTTACAGTTGTTAATCAGTTGACG -3'
|
Posted On |
2016-11-08 |