Incidental Mutation 'R5272:Plbd1'
ID |
400408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plbd1
|
Ensembl Gene |
ENSMUSG00000030214 |
Gene Name |
phospholipase B domain containing 1 |
Synonyms |
1100001H23Rik |
MMRRC Submission |
042836-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5272 (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 136617156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 62
(Y62H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144967
(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: Y174H
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000032336 Gene: ENSMUSG00000030214 AA Change: Y174H
Domain | Start | End | E-Value | Type |
Pfam:Phospholip_B
|
16 |
545 |
3.7e-198 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137139
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205021
AA Change: Y62H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144967 Gene: ENSMUSG00000030214 AA Change: Y62H
Domain | Start | End | E-Value | Type |
Pfam:Phospholip_B
|
1 |
75 |
3.8e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
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 |
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'- GCCATGTACTCAGGTTGTCATG -3'
(R):5'- ATCCCCAGAGGTGTGCATTG -3'
Sequencing Primer
(F):5'- CCATGTACTCAGGTTGTCATGTGTTC -3'
(R):5'- CTCAGCAGTTAAGAGCACTTGTTG -3'
|
Posted On |
2016-07-06 |