Incidental Mutation 'IGL01466:Peli2'
| ID |
88113 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Peli2
|
| Ensembl Gene |
ENSMUSG00000021846 |
| Gene Name |
pellino 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01466
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
48358280-48519032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48493914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 379
(Y379H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073150]
[ENSMUST00000226828]
[ENSMUST00000227362]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073150
AA Change: Y379H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: Y379H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pellino
|
10 |
419 |
1.2e-223 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228519
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,197 (GRCm39) |
N293D |
probably benign |
Het |
| Ankrd49 |
A |
G |
9: 14,692,645 (GRCm39) |
L173P |
probably damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,323,329 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
T |
8: 107,263,227 (GRCm39) |
R92L |
possibly damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,151,631 (GRCm39) |
R137S |
probably benign |
Het |
| Htra2 |
A |
G |
6: 83,031,304 (GRCm39) |
L35P |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,403,626 (GRCm39) |
M425K |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,455 (GRCm39) |
R241L |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,176,894 (GRCm39) |
D630G |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Plekhg6 |
G |
T |
6: 125,349,587 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
G |
T |
11: 94,914,081 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,428,730 (GRCm39) |
*367R |
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,873,922 (GRCm39) |
V355A |
probably benign |
Het |
| Slc46a2 |
T |
A |
4: 59,911,926 (GRCm39) |
K429* |
probably null |
Het |
| Styxl2 |
T |
G |
1: 165,928,073 (GRCm39) |
D513A |
probably damaging |
Het |
| Tspan32 |
T |
C |
7: 142,568,691 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,661,645 (GRCm39) |
V1690A |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,643,819 (GRCm39) |
Q4394K |
probably benign |
Het |
| Zfp277 |
C |
A |
12: 40,428,825 (GRCm39) |
G174V |
probably benign |
Het |
|
| Other mutations in Peli2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Peli2
|
APN |
14 |
48,490,187 (GRCm39) |
nonsense |
probably null |
|
|
IGL01810:Peli2
|
APN |
14 |
48,493,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02379:Peli2
|
APN |
14 |
48,405,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:Peli2
|
APN |
14 |
48,493,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Peli2
|
APN |
14 |
48,477,754 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03328:Peli2
|
APN |
14 |
48,490,032 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4378001:Peli2
|
UTSW |
14 |
48,405,726 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Peli2
|
UTSW |
14 |
48,358,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1545:Peli2
|
UTSW |
14 |
48,490,174 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2027:Peli2
|
UTSW |
14 |
48,493,602 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2437:Peli2
|
UTSW |
14 |
48,465,389 (GRCm39) |
intron |
probably benign |
|
|
R5481:Peli2
|
UTSW |
14 |
48,490,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Peli2
|
UTSW |
14 |
48,493,632 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5831:Peli2
|
UTSW |
14 |
48,405,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6154:Peli2
|
UTSW |
14 |
48,488,051 (GRCm39) |
nonsense |
probably null |
|
|
R6445:Peli2
|
UTSW |
14 |
48,493,905 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6712:Peli2
|
UTSW |
14 |
48,488,051 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7469:Peli2
|
UTSW |
14 |
48,488,015 (GRCm39) |
missense |
probably benign |
|
|
R7685:Peli2
|
UTSW |
14 |
48,517,491 (GRCm39) |
missense |
not run |
|
|
R8817:Peli2
|
UTSW |
14 |
48,490,130 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8819:Peli2
|
UTSW |
14 |
48,490,130 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8820:Peli2
|
UTSW |
14 |
48,490,130 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8821:Peli2
|
UTSW |
14 |
48,490,130 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8853:Peli2
|
UTSW |
14 |
48,493,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Peli2
|
UTSW |
14 |
48,518,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9268:Peli2
|
UTSW |
14 |
48,518,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9521:Peli2
|
UTSW |
14 |
48,490,052 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9553:Peli2
|
UTSW |
14 |
48,488,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Peli2
|
UTSW |
14 |
48,493,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation