Incidental Mutation 'R2927:Pramel1'
ID |
255793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel1
|
Ensembl Gene |
ENSMUSG00000041805 |
Gene Name |
PRAME like 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143120998-143126730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143125388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 437
(D437E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037419]
|
AlphaFold |
Q99MW3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037419
AA Change: D437E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043718 Gene: ENSMUSG00000041805 AA Change: D437E
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
203 |
396 |
1e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119019
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTCTCAACTCAGTGCCATC -3'
(R):5'- GTTGTGCATACTCTGACCAGAC -3'
Sequencing Primer
(F):5'- CTGCTCTGAGATGCTGTACACAG -3'
(R):5'- TGTGCATACTCTGACCAGACACATC -3'
|
Posted On |
2014-12-29 |