Incidental Mutation 'IGL01460:Peli1'
| ID |
87958 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Peli1
|
| Ensembl Gene |
ENSMUSG00000020134 |
| Gene Name |
pellino 1 |
| Synonyms |
D11Ertd676e, A930031K15Rik, 2810468L03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01460
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21041291-21100323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21096966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 119
(P119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093290]
[ENSMUST00000101477]
|
| AlphaFold |
Q8C669 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093290
AA Change: P119S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134
AA Change: P119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
8 |
418 |
5.4e-227 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101477
AA Change: P119S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134
AA Change: P119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
3 |
418 |
6.5e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156122
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,397,594 (GRCm39) |
V2608A |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,055,856 (GRCm39) |
K1250R |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,686,850 (GRCm39) |
Q14R |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,178,864 (GRCm39) |
N846D |
possibly damaging |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Itgb3 |
C |
T |
11: 104,553,220 (GRCm39) |
Q693* |
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,208,289 (GRCm39) |
V42M |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,944 (GRCm39) |
H448R |
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,714,194 (GRCm39) |
E120V |
probably benign |
Het |
| Or12k5 |
A |
C |
2: 36,894,648 (GRCm39) |
M326R |
probably benign |
Het |
| Or9a2 |
A |
C |
6: 41,749,216 (GRCm39) |
S6A |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,284,790 (GRCm39) |
V1026A |
unknown |
Het |
| Pi4ka |
A |
G |
16: 17,175,515 (GRCm39) |
F438L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,282,579 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,608,245 (GRCm39) |
L548P |
possibly damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,318,835 (GRCm39) |
A101T |
probably benign |
Het |
| Vcp |
C |
A |
4: 42,996,040 (GRCm39) |
R53L |
possibly damaging |
Het |
|
| Other mutations in Peli1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Peli1
|
APN |
11 |
21,092,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00484:Peli1
|
APN |
11 |
21,096,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01393:Peli1
|
APN |
11 |
21,097,400 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01956:Peli1
|
APN |
11 |
21,098,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Peli1
|
APN |
11 |
21,090,560 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Peli1
|
UTSW |
11 |
21,092,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0242:Peli1
|
UTSW |
11 |
21,092,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2029:Peli1
|
UTSW |
11 |
21,098,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4207:Peli1
|
UTSW |
11 |
21,097,115 (GRCm39) |
splice site |
probably null |
|
|
R4849:Peli1
|
UTSW |
11 |
21,098,528 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5368:Peli1
|
UTSW |
11 |
21,098,389 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6579:Peli1
|
UTSW |
11 |
21,097,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7459:Peli1
|
UTSW |
11 |
21,098,190 (GRCm39) |
nonsense |
probably null |
|
|
R8965:Peli1
|
UTSW |
11 |
21,098,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-18 |
Incidental Mutation