Incidental Mutation 'IGL01735:Pramel27'
ID |
152896 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel27
|
Ensembl Gene |
ENSMUSG00000029451 |
Gene Name |
PRAME like 27 |
Synonyms |
Gm13103 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01735
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143578401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 220
(I220M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
AlphaFold |
Q4VAD2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094522
AA Change: I220M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092099 Gene: ENSMUSG00000029451 AA Change: I220M
Domain | Start | End | E-Value | Type |
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139747
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
A |
T |
12: 4,251,213 (GRCm39) |
M612L |
probably benign |
Het |
Adhfe1 |
C |
A |
1: 9,618,373 (GRCm39) |
T19K |
possibly damaging |
Het |
Atxn1 |
C |
T |
13: 45,720,198 (GRCm39) |
V566M |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,364,737 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
T |
G |
12: 69,797,514 (GRCm39) |
Y258S |
probably benign |
Het |
Chil6 |
A |
T |
3: 106,296,004 (GRCm39) |
|
probably null |
Het |
Clcn7 |
T |
C |
17: 25,370,090 (GRCm39) |
F326L |
probably benign |
Het |
Cngb3 |
A |
G |
4: 19,415,648 (GRCm39) |
Y386C |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,643 (GRCm39) |
E2916* |
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,362,961 (GRCm39) |
E3841G |
probably benign |
Het |
Fat1 |
G |
T |
8: 45,489,276 (GRCm39) |
V3493L |
probably benign |
Het |
Irx5 |
A |
T |
8: 93,087,331 (GRCm39) |
H421L |
probably damaging |
Het |
Kbtbd6 |
T |
C |
14: 79,690,889 (GRCm39) |
V465A |
probably damaging |
Het |
Kcp |
T |
A |
6: 29,498,878 (GRCm39) |
N340I |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,347,053 (GRCm39) |
M73V |
probably benign |
Het |
Lpar1 |
A |
G |
4: 58,437,407 (GRCm39) |
S341P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,234,968 (GRCm39) |
V838I |
probably benign |
Het |
Med12l |
A |
G |
3: 59,170,675 (GRCm39) |
I1652V |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,208,720 (GRCm39) |
D1677V |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,235,127 (GRCm39) |
N935K |
probably benign |
Het |
Nfrkb |
T |
C |
9: 31,321,435 (GRCm39) |
S711P |
possibly damaging |
Het |
Or1j20 |
C |
A |
2: 36,759,698 (GRCm39) |
T40K |
possibly damaging |
Het |
Or52ae7 |
T |
C |
7: 103,119,530 (GRCm39) |
F95L |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,576,650 (GRCm39) |
I37V |
probably benign |
Het |
Prl7d1 |
A |
G |
13: 27,898,372 (GRCm39) |
F47L |
possibly damaging |
Het |
Ptprd |
A |
C |
4: 76,055,057 (GRCm39) |
|
probably null |
Het |
Rsph14 |
C |
A |
10: 74,860,992 (GRCm39) |
G103C |
probably damaging |
Het |
Slco1a4 |
A |
G |
6: 141,763,477 (GRCm39) |
F413S |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,873,158 (GRCm39) |
Y582H |
probably damaging |
Het |
Tcirg1 |
A |
T |
19: 3,954,210 (GRCm39) |
|
probably benign |
Het |
Trac |
G |
A |
14: 54,460,438 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
G |
T |
15: 82,198,017 (GRCm39) |
V185L |
probably benign |
Het |
|
Other mutations in Pramel27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Pramel27
|
APN |
4 |
143,579,846 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01383:Pramel27
|
APN |
4 |
143,573,102 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01976:Pramel27
|
APN |
4 |
143,579,363 (GRCm39) |
missense |
probably benign |
0.17 |
IGL03096:Pramel27
|
APN |
4 |
143,577,485 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03280:Pramel27
|
APN |
4 |
143,578,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03295:Pramel27
|
APN |
4 |
143,579,759 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Pramel27
|
UTSW |
4 |
143,578,213 (GRCm39) |
frame shift |
probably null |
|
PIT4687001:Pramel27
|
UTSW |
4 |
143,573,103 (GRCm39) |
start gained |
probably benign |
|
R0218:Pramel27
|
UTSW |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Pramel27
|
UTSW |
4 |
143,578,658 (GRCm39) |
unclassified |
probably benign |
|
R1755:Pramel27
|
UTSW |
4 |
143,577,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
R2510:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
R2511:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
R4603:Pramel27
|
UTSW |
4 |
143,579,451 (GRCm39) |
missense |
probably benign |
0.01 |
R4694:Pramel27
|
UTSW |
4 |
143,579,530 (GRCm39) |
missense |
probably damaging |
0.97 |
R4856:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
R4886:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
R4927:Pramel27
|
UTSW |
4 |
143,578,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R5168:Pramel27
|
UTSW |
4 |
143,579,768 (GRCm39) |
missense |
probably benign |
0.02 |
R5270:Pramel27
|
UTSW |
4 |
143,578,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R5402:Pramel27
|
UTSW |
4 |
143,578,225 (GRCm39) |
critical splice donor site |
probably null |
|
R5618:Pramel27
|
UTSW |
4 |
143,577,263 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6078:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6138:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6362:Pramel27
|
UTSW |
4 |
143,579,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R6526:Pramel27
|
UTSW |
4 |
143,579,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R6555:Pramel27
|
UTSW |
4 |
143,578,140 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6595:Pramel27
|
UTSW |
4 |
143,579,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6675:Pramel27
|
UTSW |
4 |
143,579,828 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Pramel27
|
UTSW |
4 |
143,578,399 (GRCm39) |
missense |
probably damaging |
0.96 |
R7282:Pramel27
|
UTSW |
4 |
143,578,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7424:Pramel27
|
UTSW |
4 |
143,579,779 (GRCm39) |
missense |
probably benign |
0.01 |
R7511:Pramel27
|
UTSW |
4 |
143,573,116 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7591:Pramel27
|
UTSW |
4 |
143,577,481 (GRCm39) |
missense |
probably benign |
0.01 |
R7868:Pramel27
|
UTSW |
4 |
143,578,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8192:Pramel27
|
UTSW |
4 |
143,578,109 (GRCm39) |
nonsense |
probably null |
|
R8244:Pramel27
|
UTSW |
4 |
143,579,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Pramel27
|
UTSW |
4 |
143,578,255 (GRCm39) |
missense |
probably benign |
0.05 |
R8531:Pramel27
|
UTSW |
4 |
143,579,601 (GRCm39) |
missense |
probably benign |
0.00 |
R8540:Pramel27
|
UTSW |
4 |
143,579,496 (GRCm39) |
missense |
probably benign |
0.00 |
R8793:Pramel27
|
UTSW |
4 |
143,577,627 (GRCm39) |
intron |
probably benign |
|
R8880:Pramel27
|
UTSW |
4 |
143,573,140 (GRCm39) |
critical splice donor site |
probably null |
|
R9069:Pramel27
|
UTSW |
4 |
143,578,345 (GRCm39) |
missense |
probably benign |
0.00 |
R9603:Pramel27
|
UTSW |
4 |
143,578,267 (GRCm39) |
missense |
|
|
R9748:Pramel27
|
UTSW |
4 |
143,579,892 (GRCm39) |
makesense |
probably null |
|
R9797:Pramel27
|
UTSW |
4 |
143,579,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
U15987:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
Z1176:Pramel27
|
UTSW |
4 |
143,579,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
Posted On |
2014-02-04 |