Incidental Mutation 'R2246:Pramel11'
ID |
240849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel11
|
Ensembl Gene |
ENSMUSG00000078512 |
Gene Name |
PRAME like 11 |
Synonyms |
Gm13099, Pramef6 |
MMRRC Submission |
040246-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R2246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143623790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 128
(V128A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
AlphaFold |
A2A8M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081645
AA Change: V128A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000080350 Gene: ENSMUSG00000078512 AA Change: V128A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: V128A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000101393 Gene: ENSMUSG00000078512 AA Change: V128A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
G |
6: 85,599,949 (GRCm39) |
S1592A |
possibly damaging |
Het |
Anapc16 |
G |
T |
10: 59,832,298 (GRCm39) |
Y38* |
probably null |
Het |
Clec7a |
T |
A |
6: 129,444,532 (GRCm39) |
H101L |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,661 (GRCm39) |
D331G |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,731,376 (GRCm39) |
T618A |
possibly damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Fn1 |
A |
T |
1: 71,667,694 (GRCm39) |
D766E |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,121 (GRCm39) |
*395W |
probably null |
Het |
Grik2 |
C |
T |
10: 49,411,532 (GRCm39) |
R202H |
probably damaging |
Het |
Hcls1 |
G |
T |
16: 36,782,984 (GRCm39) |
S445I |
probably damaging |
Het |
Hip1 |
A |
C |
5: 135,481,698 (GRCm39) |
S166R |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf9 |
T |
A |
1: 172,319,216 (GRCm39) |
S236R |
probably benign |
Het |
Knl1 |
C |
T |
2: 118,902,708 (GRCm39) |
P1470S |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,251,432 (GRCm39) |
H675Q |
probably damaging |
Het |
Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,195 (GRCm39) |
S49T |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,812 (GRCm39) |
Y33H |
probably damaging |
Het |
Palld |
T |
C |
8: 62,330,169 (GRCm39) |
D236G |
probably benign |
Het |
Pank3 |
A |
G |
11: 35,674,333 (GRCm39) |
K332R |
probably benign |
Het |
Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,535,360 (GRCm39) |
|
probably benign |
Het |
Ror2 |
C |
T |
13: 53,265,638 (GRCm39) |
G473S |
probably damaging |
Het |
Shisal1 |
T |
A |
15: 84,301,400 (GRCm39) |
H81L |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,582,723 (GRCm39) |
Y222N |
probably damaging |
Het |
Slc38a7 |
A |
T |
8: 96,570,468 (GRCm39) |
M269K |
probably damaging |
Het |
Srrd |
A |
T |
5: 112,487,622 (GRCm39) |
L159H |
probably damaging |
Het |
Tap2 |
C |
A |
17: 34,427,775 (GRCm39) |
S218Y |
possibly damaging |
Het |
Tex15 |
G |
A |
8: 34,072,540 (GRCm39) |
V2696I |
possibly damaging |
Het |
Tmem67 |
G |
A |
4: 12,040,651 (GRCm39) |
T1030I |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,751,190 (GRCm39) |
|
probably null |
Het |
Try4 |
C |
T |
6: 41,282,406 (GRCm39) |
T242I |
possibly damaging |
Het |
Ubqln3 |
C |
T |
7: 103,791,518 (GRCm39) |
V191I |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,785,764 (GRCm39) |
Y747C |
probably damaging |
Het |
Wipf3 |
C |
T |
6: 54,466,058 (GRCm39) |
P439S |
probably damaging |
Het |
Zbed5 |
A |
T |
5: 129,931,592 (GRCm39) |
M514L |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,691,361 (GRCm39) |
D1180G |
possibly damaging |
Het |
Zfyve9 |
A |
T |
4: 108,546,461 (GRCm39) |
D790E |
possibly damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,329 (GRCm39) |
K537R |
probably benign |
Het |
|
Other mutations in Pramel11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01704:Pramel11
|
APN |
4 |
143,622,201 (GRCm39) |
missense |
probably benign |
|
IGL01917:Pramel11
|
APN |
4 |
143,624,284 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02222:Pramel11
|
APN |
4 |
143,622,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02315:Pramel11
|
APN |
4 |
143,624,498 (GRCm39) |
start gained |
probably benign |
|
R0488:Pramel11
|
UTSW |
4 |
143,621,973 (GRCm39) |
missense |
probably benign |
0.00 |
R0755:Pramel11
|
UTSW |
4 |
143,624,299 (GRCm39) |
missense |
probably damaging |
0.96 |
R0972:Pramel11
|
UTSW |
4 |
143,623,533 (GRCm39) |
missense |
probably benign |
0.02 |
R1444:Pramel11
|
UTSW |
4 |
143,623,461 (GRCm39) |
missense |
probably benign |
0.01 |
R1551:Pramel11
|
UTSW |
4 |
143,622,263 (GRCm39) |
missense |
probably benign |
0.00 |
R1907:Pramel11
|
UTSW |
4 |
143,622,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2068:Pramel11
|
UTSW |
4 |
143,623,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R2182:Pramel11
|
UTSW |
4 |
143,623,760 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4483:Pramel11
|
UTSW |
4 |
143,622,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R5123:Pramel11
|
UTSW |
4 |
143,623,706 (GRCm39) |
missense |
probably benign |
0.00 |
R5291:Pramel11
|
UTSW |
4 |
143,622,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Pramel11
|
UTSW |
4 |
143,622,337 (GRCm39) |
missense |
probably damaging |
0.98 |
R5683:Pramel11
|
UTSW |
4 |
143,622,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R5836:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
R5837:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
R5838:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
R5853:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
R6340:Pramel11
|
UTSW |
4 |
143,623,877 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6572:Pramel11
|
UTSW |
4 |
143,621,943 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6791:Pramel11
|
UTSW |
4 |
143,622,252 (GRCm39) |
missense |
probably benign |
0.02 |
R6972:Pramel11
|
UTSW |
4 |
143,623,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Pramel11
|
UTSW |
4 |
143,621,991 (GRCm39) |
missense |
probably benign |
0.00 |
R7307:Pramel11
|
UTSW |
4 |
143,623,345 (GRCm39) |
nonsense |
probably null |
|
R7342:Pramel11
|
UTSW |
4 |
143,623,520 (GRCm39) |
missense |
probably benign |
0.26 |
R7361:Pramel11
|
UTSW |
4 |
143,622,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7480:Pramel11
|
UTSW |
4 |
143,622,065 (GRCm39) |
missense |
probably benign |
|
R7685:Pramel11
|
UTSW |
4 |
143,624,371 (GRCm39) |
missense |
probably benign |
0.28 |
R7861:Pramel11
|
UTSW |
4 |
143,624,288 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8699:Pramel11
|
UTSW |
4 |
143,623,762 (GRCm39) |
missense |
probably benign |
0.31 |
R8981:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9100:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9101:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9103:Pramel11
|
UTSW |
4 |
143,624,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Pramel11
|
UTSW |
4 |
143,623,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9198:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9202:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9203:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
R9473:Pramel11
|
UTSW |
4 |
143,620,815 (GRCm39) |
missense |
probably benign |
0.00 |
R9646:Pramel11
|
UTSW |
4 |
143,623,634 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pramel11
|
UTSW |
4 |
143,622,254 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pramel11
|
UTSW |
4 |
143,623,769 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCTGGATTGAGGCTGCATC -3'
(R):5'- TTTGAATCATGGGTCCTGCAG -3'
Sequencing Primer
(F):5'- GATTGAGGCTGCATCAAAAACCTTC -3'
(R):5'- ATGGGTCCTGCAGATTACAC -3'
|
Posted On |
2014-10-15 |