Incidental Mutation 'R1019:Plbd1'
| ID |
96732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plbd1
|
| Ensembl Gene |
ENSMUSG00000030214 |
| Gene Name |
phospholipase B domain containing 1 |
| Synonyms |
1100001H23Rik |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136589068-136638926 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136628903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 55
(V55A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032336]
[ENSMUST00000205021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032336
AA Change: V55A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: V55A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phospholip_B
|
16 |
545 |
3.7e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205021
|
| SMART Domains |
Protein: ENSMUSP00000144967
Gene: ENSMUSG00000030214
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phospholip_B
|
1 |
75 |
3.8e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
| Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
probably benign |
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 |
|
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 |
|
R5649:Plbd1
|
UTSW |
6 |
136,593,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGGGATGGGGCACTTACAGAGC -3'
(R):5'- ACCACTGGACACCTGGATAGGAAC -3'
Sequencing Primer
(F):5'- CTTACAGAGCAGTGAGGTAGCC -3'
(R):5'- tgtagccagagaccagcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation