Incidental Mutation 'YA93:Pbld2'
ID |
90 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbld2
|
Ensembl Gene |
ENSMUSG00000020072 |
Gene Name |
phenazine biosynthesis-like protein domain containing 2 |
Synonyms |
3110049J23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
YA93
of strain
inept
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62890224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 211
(Y211N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020262]
[ENSMUST00000124784]
|
AlphaFold |
Q9CXN7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020262
AA Change: Y211N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020262 Gene: ENSMUSG00000020072 AA Change: Y211N
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
8 |
284 |
2e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124784
|
SMART Domains |
Protein: ENSMUSP00000121682 Gene: ENSMUSG00000020072
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
69 |
175 |
1.5e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155982
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
|
Validation Efficiency |
88% (101/115) |
Allele List at MGI |
All alleles(21) : Gene trapped(21) |
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
B4galnt4 |
T |
A |
7: 140,647,324 (GRCm39) |
I358K |
possibly damaging |
Homo |
Ccdc168 |
A |
G |
1: 44,104,245 (GRCm39) |
|
probably benign |
Het |
Chodl |
A |
G |
16: 78,738,170 (GRCm39) |
H46R |
probably benign |
Homo |
Cubn |
C |
A |
2: 13,388,803 (GRCm39) |
R1468L |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,205,201 (GRCm39) |
|
probably benign |
Het |
Dntt |
A |
C |
19: 41,041,626 (GRCm39) |
M437L |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,821,594 (GRCm39) |
P157S |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,057 (GRCm39) |
G812D |
probably damaging |
Het |
Osbpl5 |
T |
A |
7: 143,247,607 (GRCm39) |
I720F |
probably benign |
Homo |
Peg3 |
T |
A |
7: 6,714,646 (GRCm39) |
E192V |
probably damaging |
Het |
Ptbp3 |
T |
C |
4: 59,524,413 (GRCm39) |
T38A |
possibly damaging |
Het |
Rpap3 |
T |
A |
15: 97,591,114 (GRCm39) |
E241V |
possibly damaging |
Het |
Scara3 |
C |
A |
14: 66,168,398 (GRCm39) |
M406I |
probably damaging |
Het |
Serpinf2 |
C |
A |
11: 75,323,510 (GRCm39) |
V399L |
probably benign |
Het |
|
Other mutations in Pbld2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Pbld2
|
APN |
10 |
62,907,734 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02162:Pbld2
|
APN |
10 |
62,907,179 (GRCm39) |
splice site |
probably benign |
|
IGL03206:Pbld2
|
APN |
10 |
62,883,261 (GRCm39) |
missense |
probably benign |
0.06 |
R0311:Pbld2
|
UTSW |
10 |
62,890,286 (GRCm39) |
critical splice donor site |
probably null |
|
R0366:Pbld2
|
UTSW |
10 |
62,889,736 (GRCm39) |
unclassified |
probably benign |
|
R0727:Pbld2
|
UTSW |
10 |
62,903,298 (GRCm39) |
missense |
probably benign |
0.03 |
R0731:Pbld2
|
UTSW |
10 |
62,892,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1412:Pbld2
|
UTSW |
10 |
62,883,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Pbld2
|
UTSW |
10 |
62,912,212 (GRCm39) |
missense |
probably benign |
0.01 |
R1531:Pbld2
|
UTSW |
10 |
62,889,732 (GRCm39) |
critical splice donor site |
probably null |
|
R1773:Pbld2
|
UTSW |
10 |
62,890,150 (GRCm39) |
missense |
probably benign |
0.03 |
R1778:Pbld2
|
UTSW |
10 |
62,890,150 (GRCm39) |
missense |
probably benign |
0.03 |
R1797:Pbld2
|
UTSW |
10 |
62,910,903 (GRCm39) |
critical splice donor site |
probably null |
|
R2251:Pbld2
|
UTSW |
10 |
62,860,384 (GRCm39) |
unclassified |
probably benign |
|
R3036:Pbld2
|
UTSW |
10 |
62,907,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R3117:Pbld2
|
UTSW |
10 |
62,890,215 (GRCm39) |
missense |
probably benign |
0.00 |
R3622:Pbld2
|
UTSW |
10 |
62,897,470 (GRCm39) |
missense |
probably damaging |
0.97 |
R3624:Pbld2
|
UTSW |
10 |
62,897,470 (GRCm39) |
missense |
probably damaging |
0.97 |
R3734:Pbld2
|
UTSW |
10 |
62,907,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Pbld2
|
UTSW |
10 |
62,860,186 (GRCm39) |
unclassified |
probably benign |
|
R4684:Pbld2
|
UTSW |
10 |
62,893,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Pbld2
|
UTSW |
10 |
62,883,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Pbld2
|
UTSW |
10 |
62,888,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5508:Pbld2
|
UTSW |
10 |
62,902,444 (GRCm39) |
splice site |
probably null |
|
R5596:Pbld2
|
UTSW |
10 |
62,907,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Pbld2
|
UTSW |
10 |
62,907,228 (GRCm39) |
missense |
probably benign |
|
R6298:Pbld2
|
UTSW |
10 |
62,874,931 (GRCm39) |
missense |
probably benign |
0.05 |
R6404:Pbld2
|
UTSW |
10 |
62,890,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R7089:Pbld2
|
UTSW |
10 |
62,889,691 (GRCm39) |
missense |
probably benign |
0.23 |
R7134:Pbld2
|
UTSW |
10 |
62,860,368 (GRCm39) |
unclassified |
probably benign |
|
R7423:Pbld2
|
UTSW |
10 |
62,883,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8016:Pbld2
|
UTSW |
10 |
62,883,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Pbld2
|
UTSW |
10 |
62,883,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R8119:Pbld2
|
UTSW |
10 |
62,889,656 (GRCm39) |
missense |
probably benign |
0.34 |
R8281:Pbld2
|
UTSW |
10 |
62,883,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8747:Pbld2
|
UTSW |
10 |
62,888,069 (GRCm39) |
missense |
probably benign |
0.07 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a T to A transversion at position 916 of the 3110049J23Rik transcript in exon 8 of 10 total exons. The mutated nucleotide causes a tyrosine to asparagine substitution at amino acid 211 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The 3110049J23Rik gene encodes a 288 amino acid protein belonging to the phzF family and is known as the phenazine biosynthesis-like domain-containing protein 2. These enzymes are involved in phenazine biosynthesis in bacteria (Uniprot Q9CXN7).
The Y211N change is predicted to be probably damaging by the PolyPhen program.
|
Posted On |
2010-03-02 |