Incidental Mutation 'R6579:Peli1'
| ID |
523937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Peli1
|
| Ensembl Gene |
ENSMUSG00000020134 |
| Gene Name |
pellino 1 |
| Synonyms |
D11Ertd676e, A930031K15Rik, 2810468L03Rik |
| MMRRC Submission |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21041291-21100323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21097059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 150
(T150S)
|
| 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: T150S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134
AA Change: T150S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
8 |
418 |
5.4e-227 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101477
AA Change: T150S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134
AA Change: T150S
| 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
|
| Meta Mutation Damage Score |
0.0921 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R7459:Peli1
|
UTSW |
11 |
21,098,190 (GRCm39) |
nonsense |
probably null |
|
|
R8965:Peli1
|
UTSW |
11 |
21,098,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACTGTGTTCGTTGAAAC -3'
(R):5'- ATGTCTTCCACTTGGCAGCC -3'
Sequencing Primer
(F):5'- GTCGGTCAACTGAAAGTC -3'
(R):5'- TGGCAGCCTTCTCCTATAAAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation