Incidental Mutation 'R6311:Plbd1'
| ID |
509771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plbd1
|
| Ensembl Gene |
ENSMUSG00000030214 |
| Gene Name |
phospholipase B domain containing 1 |
| Synonyms |
1100001H23Rik |
| MMRRC Submission |
044469-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136589068-136638926 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136590945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 407
(H407L)
|
| 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 benign
Transcript: ENSMUST00000032336
AA Change: H407L
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: H407L
| 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 |
0.2710 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
| B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
| Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
| Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
| Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
| Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
| Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
| Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
| Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
|
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 |
|
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 |
|
|
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'- AGATGGCGGACTTACACAATTC -3'
(R):5'- TAGAAGGACCACTGTGACCTG -3'
Sequencing Primer
(F):5'- TTGCAGAGTGACTCAACAAATGTGC -3'
(R):5'- TGCAGGTTCATTTCCTAAGTAATTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation