Incidental Mutation 'R2166:Plbd1'
ID |
235490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plbd1
|
Ensembl Gene |
ENSMUSG00000030214 |
Gene Name |
phospholipase B domain containing 1 |
Synonyms |
1100001H23Rik |
MMRRC Submission |
040169-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136589068-136638926 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 136590788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
[ENSMUST00000032336]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032335
|
SMART Domains |
Protein: ENSMUSP00000032335 Gene: ENSMUSG00000030213
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
123 |
144 |
9.59e-5 |
PROSPERO |
internal_repeat_1
|
143 |
164 |
9.59e-5 |
PROSPERO |
low complexity region
|
184 |
212 |
N/A |
INTRINSIC |
low complexity region
|
246 |
262 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
low complexity region
|
567 |
582 |
N/A |
INTRINSIC |
Pfam:ATF7IP_BD
|
598 |
813 |
5.5e-62 |
PFAM |
low complexity region
|
864 |
889 |
N/A |
INTRINSIC |
PDB:2RPQ|B
|
974 |
1017 |
5e-7 |
PDB |
low complexity region
|
1022 |
1036 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1050 |
N/A |
INTRINSIC |
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1168 |
1192 |
N/A |
INTRINSIC |
FN3
|
1194 |
1288 |
3.4e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000032336
|
SMART Domains |
Protein: ENSMUSP00000032336 Gene: ENSMUSG00000030214
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
|
Meta Mutation Damage Score |
0.9490 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
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 |
Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
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 |
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'- AACGGCTCTATTTGTTGAGCC -3'
(R):5'- TTAGAAGGACCACTGTGACCTG -3'
Sequencing Primer
(F):5'- GAGCCATATGTGTACAGCATTAG -3'
(R):5'- GGATACTGGGCTTCCTATAATATCC -3'
|
Posted On |
2014-10-01 |