Incidental Mutation 'P0045:Pramel1'
| ID |
7778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel1
|
| Ensembl Gene |
ENSMUSG00000041805 |
| Gene Name |
PRAME like 1 |
| Synonyms |
|
| MMRRC Submission |
038292-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143120998-143126730 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 143125092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 339
(R339*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037419]
|
| AlphaFold |
Q99MW3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037419
AA Change: R339*
|
| SMART Domains |
Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: R339*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
203 |
396 |
1e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119019
|
| Meta Mutation Damage Score |
0.9580 |
| Coding Region Coverage |
- 1x: 79.8%
- 3x: 69.7%
- 10x: 39.8%
- 20x: 17.7%
|
| Validation Efficiency |
80% (82/102) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
A |
11: 83,258,852 (GRCm39) |
N736K |
probably damaging |
Het |
| Chsy3 |
C |
A |
18: 59,542,078 (GRCm39) |
Y405* |
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,554,893 (GRCm39) |
S2062P |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,122,098 (GRCm39) |
D204E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,994,062 (GRCm39) |
V2328A |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,802,400 (GRCm39) |
K876E |
probably damaging |
Het |
| Immt |
T |
G |
6: 71,845,601 (GRCm39) |
I404M |
possibly damaging |
Het |
| Kcp |
A |
G |
6: 29,498,347 (GRCm39) |
V403A |
probably damaging |
Het |
| Litaf |
C |
T |
16: 10,781,229 (GRCm39) |
R90H |
probably benign |
Het |
| Med12l |
T |
A |
3: 58,998,956 (GRCm39) |
S639T |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,741,134 (GRCm39) |
M1091K |
probably damaging |
Het |
| Prss32 |
A |
G |
17: 24,078,294 (GRCm39) |
S327G |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,769,404 (GRCm39) |
|
probably benign |
Het |
| Tpm3 |
T |
C |
3: 89,998,400 (GRCm39) |
|
probably null |
Het |
| Ubac2 |
T |
C |
14: 122,211,008 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 19,975,695 (GRCm39) |
E117G |
possibly damaging |
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 |
|
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 |
|
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 |
2012-10-29 |
Incidental Mutation