Incidental Mutation 'R5552:Pramel51'
ID |
435189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel51
|
Ensembl Gene |
ENSMUSG00000066027 |
Gene Name |
PRAME like 51 |
Synonyms |
Gm10436 |
MMRRC Submission |
043109-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R5552 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88145135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 64
(T64S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
AlphaFold |
L7N1Y3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071580
AA Change: T72S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000071508 Gene: ENSMUSG00000066027 AA Change: T72S
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 |
probably benign
Transcript: ENSMUST00000222081
AA Change: T64S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222556
AA Change: T63S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
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 |
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAACCTTTTGTGCAAGCAG -3'
(R):5'- TCGGTAGTGATCTAGCCCTCAC -3'
Sequencing Primer
(F):5'- GTGCAAGCAGTATATCTAGTCCC -3'
(R):5'- GGTAGTGATCTAGCCCTCACACTTC -3'
|
Posted On |
2016-10-24 |