Incidental Mutation 'IGL01391:Pramel51'
ID |
79200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel51
|
Ensembl Gene |
ENSMUSG00000066027 |
Gene Name |
PRAME like 51 |
Synonyms |
Gm10436 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
IGL01391
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88145225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 34
(V34I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
AlphaFold |
L7N1Y3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071580
AA Change: V42I
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071508 Gene: ENSMUSG00000066027 AA Change: V42I
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222081
AA Change: V34I
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222556
AA Change: V33I
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
T |
A |
8: 23,289,663 (GRCm39) |
I147F |
probably benign |
Het |
Areg |
T |
A |
5: 91,288,954 (GRCm39) |
S87T |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,369,133 (GRCm39) |
|
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,156 (GRCm39) |
R8G |
probably benign |
Het |
Brms1 |
A |
G |
19: 5,096,723 (GRCm39) |
E135G |
possibly damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,505 (GRCm39) |
|
probably benign |
Het |
Dock3 |
A |
T |
9: 106,784,433 (GRCm39) |
M258K |
possibly damaging |
Het |
Epb41l4a |
T |
G |
18: 33,934,678 (GRCm39) |
D562A |
possibly damaging |
Het |
Etaa1 |
G |
A |
11: 17,896,005 (GRCm39) |
T704I |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,376 (GRCm39) |
H972L |
probably damaging |
Het |
Foxn1 |
A |
G |
11: 78,252,320 (GRCm39) |
M356T |
probably damaging |
Het |
Gfral |
C |
A |
9: 76,072,107 (GRCm39) |
G388* |
probably null |
Het |
Gm12258 |
A |
G |
11: 58,739,520 (GRCm39) |
T3A |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,311 (GRCm39) |
N7S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,881,746 (GRCm39) |
L765P |
probably damaging |
Het |
Jchain |
C |
T |
5: 88,669,383 (GRCm39) |
C90Y |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,607,983 (GRCm39) |
Y381C |
probably damaging |
Het |
Lhx6 |
A |
T |
2: 35,993,477 (GRCm39) |
C74S |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,030,632 (GRCm39) |
S1179G |
unknown |
Het |
Mapre3 |
T |
C |
5: 31,022,241 (GRCm39) |
I236T |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,064,010 (GRCm39) |
|
probably null |
Het |
Med13 |
A |
T |
11: 86,219,323 (GRCm39) |
H374Q |
probably benign |
Het |
Meioc |
A |
G |
11: 102,565,113 (GRCm39) |
Y187C |
probably benign |
Het |
Myh1 |
G |
A |
11: 67,108,689 (GRCm39) |
M1368I |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,035,208 (GRCm39) |
I220N |
possibly damaging |
Het |
Or8b54 |
A |
G |
9: 38,686,826 (GRCm39) |
I92V |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,842,394 (GRCm39) |
Y1501H |
probably damaging |
Het |
Pigb |
T |
C |
9: 72,929,573 (GRCm39) |
T337A |
probably damaging |
Het |
Pls1 |
T |
C |
9: 95,655,751 (GRCm39) |
K334E |
probably benign |
Het |
Rab3b |
T |
C |
4: 108,797,999 (GRCm39) |
C226R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,571,571 (GRCm39) |
I4889N |
possibly damaging |
Het |
Serpinb1a |
G |
A |
13: 33,029,398 (GRCm39) |
S210L |
probably benign |
Het |
Slc52a3 |
A |
G |
2: 151,849,522 (GRCm39) |
I390V |
probably benign |
Het |
Slc6a7 |
C |
A |
18: 61,136,382 (GRCm39) |
A340S |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,615 (GRCm39) |
Y379C |
probably damaging |
Het |
Tex261 |
A |
G |
6: 83,748,222 (GRCm39) |
V180A |
probably benign |
Het |
Tnnt1 |
C |
T |
7: 4,517,211 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,798,847 (GRCm39) |
T476A |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,852,288 (GRCm39) |
S891P |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,627 (GRCm39) |
D611E |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,886,819 (GRCm39) |
T32A |
probably benign |
Het |
Vwde |
T |
G |
6: 13,190,526 (GRCm39) |
S522R |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,054,105 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
G |
T |
5: 37,128,907 (GRCm39) |
Q288K |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,618,699 (GRCm39) |
V120A |
probably damaging |
Het |
Zfp672 |
A |
G |
11: 58,208,192 (GRCm39) |
F43S |
probably damaging |
Het |
Znhit3 |
A |
T |
11: 84,802,283 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pramel51 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Pramel51
|
APN |
12 |
88,143,882 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01784:Pramel51
|
APN |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
R3625:Pramel51
|
UTSW |
12 |
88,142,731 (GRCm39) |
missense |
probably benign |
0.06 |
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R5318:Pramel51
|
UTSW |
12 |
88,142,998 (GRCm39) |
missense |
probably benign |
0.01 |
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
R5601:Pramel51
|
UTSW |
12 |
88,142,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2013-11-05 |