Incidental Mutation 'IGL02334:Pramel1'
| ID |
288790 |
| 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 # |
IGL02334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143120998-143126730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143124096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 257
(F257S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037419]
|
| AlphaFold |
Q99MW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037419
AA Change: F257S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: F257S
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
| F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
| Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
C |
A |
6: 124,838,123 (GRCm39) |
G176C |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
| Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
| Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
| Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,017,717 (GRCm39) |
F203S |
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 175,016,788 (GRCm39) |
D61N |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
| Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
| Slc17a9 |
G |
A |
2: 180,382,536 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,402,837 (GRCm39) |
T637K |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
| Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pramel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Pramel1
|
APN |
4 |
143,124,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation