Incidental Mutation 'IGL01956:Peli1'
| ID |
181106 |
| 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 # |
IGL01956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21041291-21100323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21098501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 412
(I412N)
|
| 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: I412N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134
AA Change: I412N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
8 |
418 |
5.4e-227 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101477
AA Change: I412N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134
AA Change: I412N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
3 |
418 |
6.5e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149675
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,825,770 (GRCm39) |
G1022D |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,594,549 (GRCm39) |
H4155R |
possibly damaging |
Het |
| Akna |
A |
T |
4: 63,297,527 (GRCm39) |
D842E |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,773,735 (GRCm39) |
E88G |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,425 (GRCm39) |
P148L |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,294,518 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,150,158 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
G |
15: 44,263,612 (GRCm39) |
Y277H |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,962,509 (GRCm39) |
S154P |
probably benign |
Het |
| Or6c206 |
T |
A |
10: 129,096,911 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pah |
G |
A |
10: 87,374,061 (GRCm39) |
E76K |
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,322,407 (GRCm39) |
N620S |
probably damaging |
Het |
| Slc18a2 |
T |
C |
19: 59,275,608 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
C |
5: 135,066,323 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,144,748 (GRCm39) |
D1566N |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,755 (GRCm39) |
E433D |
probably benign |
Het |
| Tas2r102 |
G |
A |
6: 132,739,416 (GRCm39) |
W108* |
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,981,036 (GRCm39) |
V135A |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,947,160 (GRCm39) |
S598P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp729a |
A |
T |
13: 67,769,805 (GRCm39) |
H141Q |
probably 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 |
|
IGL01460:Peli1
|
APN |
11 |
21,096,966 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2014-05-07 |
Incidental Mutation