Incidental Mutation 'IGL02162:Pbld2'
| ID |
282529 |
| 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 # |
IGL02162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 62907179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020266]
[ENSMUST00000178684]
|
| AlphaFold |
Q9CXN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020266
|
| SMART Domains |
Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
8 |
285 |
7e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178684
|
| SMART Domains |
Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
8 |
284 |
2.6e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219829
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(21) : Gene trapped(21) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
T |
C |
14: 44,199,966 (GRCm39) |
L10S |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,177,489 (GRCm39) |
T577A |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,460,564 (GRCm39) |
P297T |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,911,531 (GRCm39) |
|
probably benign |
Het |
| Ctss |
A |
G |
3: 95,454,132 (GRCm39) |
K227R |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,094,230 (GRCm39) |
R2902Q |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,881,810 (GRCm39) |
A2862S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,796,502 (GRCm39) |
|
probably null |
Het |
| Fbxw5 |
C |
A |
2: 25,393,283 (GRCm39) |
Q16K |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,774,660 (GRCm39) |
C78Y |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,076,003 (GRCm39) |
Y688F |
possibly damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,353 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,671 (GRCm39) |
H63R |
possibly damaging |
Het |
| Ikbke |
A |
G |
1: 131,201,452 (GRCm39) |
S132P |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,153,089 (GRCm39) |
I340T |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,446,163 (GRCm39) |
|
probably benign |
Het |
| Nfkbie |
T |
G |
17: 45,867,242 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
G |
T |
3: 109,842,311 (GRCm39) |
S154* |
probably null |
Het |
| Or6c208 |
C |
T |
10: 129,223,973 (GRCm39) |
P157L |
probably benign |
Het |
| Or8b12b |
A |
G |
9: 37,684,227 (GRCm39) |
I91V |
probably benign |
Het |
| Phaf1 |
C |
T |
8: 105,966,605 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
T |
15: 76,064,360 (GRCm39) |
M1971I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,717,714 (GRCm39) |
F1067I |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,878,606 (GRCm39) |
F290L |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,523,970 (GRCm39) |
Y288F |
probably damaging |
Het |
| St8sia3 |
A |
G |
18: 64,398,651 (GRCm39) |
N37D |
probably benign |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,422 (GRCm39) |
D311G |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,688 (GRCm39) |
I33V |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,218,210 (GRCm39) |
F78L |
probably benign |
Het |
| Zfp541 |
C |
A |
7: 15,813,393 (GRCm39) |
T682K |
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 |
|
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 |
|
YA93:Pbld2
|
UTSW |
10 |
62,890,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation