Incidental Mutation 'IGL00940:Pramel1'
| ID |
27269 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel1
|
| Ensembl Gene |
ENSMUSG00000041805 |
| Gene Name |
PRAME like 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143120998-143126730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143124126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 267
(L267H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037419]
|
| AlphaFold |
Q99MW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037419
AA Change: L267H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: L267H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
203 |
396 |
1e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119019
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,940 (GRCm39) |
F120I |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,168,347 (GRCm39) |
|
probably null |
Het |
| Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
| Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,469 (GRCm39) |
V247A |
probably damaging |
Het |
| Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,262,134 (GRCm39) |
T148I |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
| Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
Het |
|
| Other mutations in Pramel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Pramel1
|
APN |
4 |
143,123,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01713:Pramel1
|
APN |
4 |
143,123,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02334:Pramel1
|
APN |
4 |
143,124,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02957:Pramel1
|
APN |
4 |
143,124,168 (GRCm39) |
missense |
probably benign |
0.22 |
|
P0045:Pramel1
|
UTSW |
4 |
143,125,092 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Pramel1
|
UTSW |
4 |
143,124,960 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0136:Pramel1
|
UTSW |
4 |
143,124,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Pramel1
|
UTSW |
4 |
143,124,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0612:Pramel1
|
UTSW |
4 |
143,124,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1700:Pramel1
|
UTSW |
4 |
143,124,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Pramel1
|
UTSW |
4 |
143,125,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2927:Pramel1
|
UTSW |
4 |
143,125,388 (GRCm39) |
missense |
probably benign |
|
|
R4012:Pramel1
|
UTSW |
4 |
143,123,260 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5253:Pramel1
|
UTSW |
4 |
143,125,156 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5388:Pramel1
|
UTSW |
4 |
143,123,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6457:Pramel1
|
UTSW |
4 |
143,123,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Pramel1
|
UTSW |
4 |
143,123,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Pramel1
|
UTSW |
4 |
143,124,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Pramel1
|
UTSW |
4 |
143,123,810 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8532:Pramel1
|
UTSW |
4 |
143,125,125 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8977:Pramel1
|
UTSW |
4 |
143,123,961 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9264:Pramel1
|
UTSW |
4 |
143,125,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Pramel1
|
UTSW |
4 |
143,123,769 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9466:Pramel1
|
UTSW |
4 |
143,123,799 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9769:Pramel1
|
UTSW |
4 |
143,125,110 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2013-04-17 |
Incidental Mutation