Incidental Mutation 'IGL00096:Peli1'
ID |
1193 |
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 # |
IGL00096
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
21041291-21100323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21092619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 89
(V89I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093290]
[ENSMUST00000101477]
|
AlphaFold |
Q8C669 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093290
AA Change: V89I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090979 Gene: ENSMUSG00000020134 AA Change: V89I
Domain | Start | End | E-Value | Type |
Pfam:Pellino
|
8 |
418 |
5.4e-227 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101477
AA Change: V89I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099018 Gene: ENSMUSG00000020134 AA Change: V89I
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,027,477 (GRCm39) |
Y42H |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,474,692 (GRCm39) |
F437Y |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,197,373 (GRCm39) |
D1004G |
possibly damaging |
Het |
C9 |
A |
C |
15: 6,516,137 (GRCm39) |
Q313H |
probably benign |
Het |
Carmil1 |
T |
A |
13: 24,295,821 (GRCm39) |
N398Y |
possibly damaging |
Het |
Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
Inpp5k |
T |
A |
11: 75,537,646 (GRCm39) |
M352K |
possibly damaging |
Het |
Lef1 |
C |
T |
3: 130,907,499 (GRCm39) |
|
probably benign |
Het |
Naip5 |
C |
A |
13: 100,382,683 (GRCm39) |
E9* |
probably null |
Het |
Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
Plb1 |
A |
G |
5: 32,503,080 (GRCm39) |
Q1180R |
probably benign |
Het |
Skic2 |
T |
A |
17: 35,058,524 (GRCm39) |
I1198F |
probably damaging |
Het |
Sorcs3 |
T |
A |
19: 48,672,097 (GRCm39) |
|
probably null |
Het |
Spin2f |
T |
A |
X: 30,905,704 (GRCm39) |
I51N |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,068,859 (GRCm39) |
K1800E |
probably damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,801,138 (GRCm39) |
V266E |
probably damaging |
Het |
|
Other mutations in Peli1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL01460:Peli1
|
APN |
11 |
21,096,966 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2011-07-12 |