Incidental Mutation 'IGL03206:Pbld2'
ID |
413147 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03206
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62883261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 94
(D94E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020262]
[ENSMUST00000124784]
|
AlphaFold |
Q9CXN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020262
AA Change: D33E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000020262 Gene: ENSMUSG00000020072 AA Change: D33E
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
8 |
284 |
2e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124784
AA Change: D94E
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121682 Gene: ENSMUSG00000020072 AA Change: D94E
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
69 |
175 |
1.5e-39 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(21) : Gene trapped(21) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly damaging |
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 |
|
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 |
YA93:Pbld2
|
UTSW |
10 |
62,890,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |