Incidental Mutation 'IGL02870:Peli2'
| ID |
362530 |
| 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 # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
48358280-48519032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48493722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 315
(V315M)
|
| 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: V315M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: V315M
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
probably damaging |
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 |
|
|
IGL01466:Peli2
|
APN |
14 |
48,493,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation