Incidental Mutation 'R7645:Pramel51'
ID |
590492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel51
|
Ensembl Gene |
ENSMUSG00000066027 |
Gene Name |
PRAME like 51 |
Synonyms |
Gm10436 |
MMRRC Submission |
045701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7645 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88143028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 392
(T392A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071508
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
AlphaFold |
L7N1Y3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071580
AA Change: T392A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071508 Gene: ENSMUSG00000066027 AA Change: T392A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220521
AA Change: T197A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,392,789 (GRCm39) |
C375S |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,761,392 (GRCm39) |
|
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,589,689 (GRCm39) |
Y1854C |
probably benign |
Het |
Bcat2 |
T |
A |
7: 45,237,387 (GRCm39) |
N290K |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,879,318 (GRCm39) |
|
probably null |
Het |
Cnot10 |
T |
C |
9: 114,442,705 (GRCm39) |
S501G |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
Coq2 |
A |
C |
5: 100,808,116 (GRCm39) |
C228W |
probably damaging |
Het |
Cpt2 |
A |
T |
4: 107,764,171 (GRCm39) |
M531K |
possibly damaging |
Het |
Dennd1a |
A |
G |
2: 37,911,375 (GRCm39) |
L204P |
probably damaging |
Het |
Dock9 |
C |
T |
14: 121,835,075 (GRCm39) |
V1305M |
probably benign |
Het |
Dusp16 |
A |
G |
6: 134,702,888 (GRCm39) |
I201T |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,064,630 (GRCm39) |
D370G |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,037 (GRCm39) |
S158P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,726,232 (GRCm39) |
H329R |
possibly damaging |
Het |
Gpr3 |
A |
G |
4: 132,938,640 (GRCm39) |
W11R |
probably damaging |
Het |
H2-M3 |
T |
A |
17: 37,581,620 (GRCm39) |
I94N |
probably damaging |
Het |
Krt7 |
T |
C |
15: 101,310,524 (GRCm39) |
I57T |
probably damaging |
Het |
Ltc4s |
T |
C |
11: 50,129,373 (GRCm39) |
|
probably benign |
Het |
Ms4a6b |
A |
T |
19: 11,501,304 (GRCm39) |
T105S |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,234,923 (GRCm39) |
H592R |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,476,303 (GRCm39) |
E262G |
probably benign |
Het |
Or4x11 |
T |
A |
2: 89,868,091 (GRCm39) |
I276K |
possibly damaging |
Het |
Or5b108 |
T |
C |
19: 13,168,937 (GRCm39) |
V302A |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
Polg2 |
A |
T |
11: 106,666,419 (GRCm39) |
M242K |
probably benign |
Het |
Polr3g |
T |
C |
13: 81,842,563 (GRCm39) |
T151A |
unknown |
Het |
Psmb8 |
T |
C |
17: 34,419,186 (GRCm39) |
L160P |
possibly damaging |
Het |
Rab5b |
G |
A |
10: 128,517,260 (GRCm39) |
A176V |
possibly damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
Rufy3 |
A |
G |
5: 88,788,476 (GRCm39) |
T506A |
probably benign |
Het |
Samd11 |
T |
C |
4: 156,340,243 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,029,450 (GRCm39) |
F279L |
possibly damaging |
Het |
Slc49a4 |
T |
A |
16: 35,554,438 (GRCm39) |
|
probably null |
Het |
Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
Srgn |
C |
T |
10: 62,330,757 (GRCm39) |
W116* |
probably null |
Het |
Svil |
A |
G |
18: 5,099,663 (GRCm39) |
E1733G |
probably damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,119,742 (GRCm39) |
P49S |
probably benign |
Het |
Tbc1d9 |
A |
T |
8: 83,969,182 (GRCm39) |
K490M |
probably damaging |
Het |
Tcte1 |
A |
G |
17: 45,845,915 (GRCm39) |
N173S |
probably benign |
Het |
Tmco6 |
C |
T |
18: 36,868,446 (GRCm39) |
R31W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,730,025 (GRCm39) |
A5155S |
unknown |
Het |
Tyro3 |
T |
C |
2: 119,647,387 (GRCm39) |
Y839H |
probably damaging |
Het |
Zc3h12d |
A |
G |
10: 7,743,340 (GRCm39) |
D370G |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,664,803 (GRCm39) |
L554P |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,113,014 (GRCm39) |
P385S |
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 |
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 |
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 |
|
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'- ATAGGGGCAGGGTAACACTC -3'
(R):5'- AAAGCAAGCATTTCTTCTCTACCC -3'
Sequencing Primer
(F):5'- GGGTAACACTCATAGATCAGCTGAC -3'
(R):5'- GTGCCTGAAAAAGCCCTTG -3'
|
Posted On |
2019-10-24 |