Incidental Mutation 'R5853:Pramel11'
ID |
454754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel11
|
Ensembl Gene |
ENSMUSG00000078512 |
Gene Name |
PRAME like 11 |
Synonyms |
Gm13099, Pramef6 |
MMRRC Submission |
044068-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5853 (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 143623490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
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: V228A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080350 Gene: ENSMUSG00000078512 AA Change: V228A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: V228A
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101393 Gene: ENSMUSG00000078512 AA Change: V228A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
A |
7: 119,939,806 (GRCm39) |
V303I |
probably benign |
Het |
Abca4 |
G |
T |
3: 121,897,180 (GRCm39) |
V620L |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,329,995 (GRCm39) |
V320E |
possibly damaging |
Het |
Aoah |
G |
T |
13: 21,184,072 (GRCm39) |
A379S |
probably benign |
Het |
Apol7e |
A |
G |
15: 77,598,667 (GRCm39) |
D44G |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,658,813 (GRCm39) |
|
probably null |
Het |
Cd209b |
T |
C |
8: 3,976,549 (GRCm39) |
|
probably null |
Het |
Chek1 |
G |
A |
9: 36,624,983 (GRCm39) |
S366L |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,797,190 (GRCm39) |
L712P |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,750,161 (GRCm39) |
|
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,092,977 (GRCm39) |
D178G |
probably benign |
Het |
Cpox |
T |
C |
16: 58,495,780 (GRCm39) |
Y366H |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,538,056 (GRCm39) |
F3632S |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,076,388 (GRCm39) |
D645E |
probably damaging |
Het |
Emilin1 |
G |
A |
5: 31,075,966 (GRCm39) |
E736K |
probably damaging |
Het |
Gcnt4 |
G |
A |
13: 97,083,160 (GRCm39) |
R152Q |
probably benign |
Het |
Il6st |
T |
C |
13: 112,618,071 (GRCm39) |
S162P |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,491,601 (GRCm39) |
K362E |
probably benign |
Het |
Kif22 |
G |
T |
7: 126,632,539 (GRCm39) |
P257Q |
possibly damaging |
Het |
Lhx2 |
T |
C |
2: 38,259,053 (GRCm39) |
V378A |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,630 (GRCm39) |
V202A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,553,738 (GRCm39) |
N366I |
unknown |
Het |
Mbip |
T |
C |
12: 56,382,662 (GRCm39) |
D268G |
probably damaging |
Het |
Mc5r |
A |
G |
18: 68,472,564 (GRCm39) |
M308V |
probably benign |
Het |
Mndal |
C |
A |
1: 173,690,070 (GRCm39) |
G420V |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,899,822 (GRCm39) |
N1442K |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,058,811 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
A |
G |
13: 40,360,193 (GRCm39) |
S279P |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,326 (GRCm39) |
M116K |
possibly damaging |
Het |
Or6b2b |
T |
C |
1: 92,419,439 (GRCm39) |
I13V |
probably benign |
Het |
Pabpc1l |
A |
T |
2: 163,891,438 (GRCm39) |
H552L |
probably benign |
Het |
Pigr |
T |
A |
1: 130,774,341 (GRCm39) |
C440* |
probably null |
Het |
Prss30 |
C |
T |
17: 24,191,820 (GRCm39) |
V271I |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,741,234 (GRCm39) |
|
probably null |
Het |
Qrich1 |
T |
A |
9: 108,410,807 (GRCm39) |
|
probably benign |
Het |
Rem1 |
C |
G |
2: 152,470,200 (GRCm39) |
A62G |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,354 (GRCm39) |
N58S |
probably damaging |
Het |
Rp9 |
G |
A |
9: 22,360,065 (GRCm39) |
|
probably benign |
Het |
Rrp1b |
G |
A |
17: 32,275,658 (GRCm39) |
V402I |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,349 (GRCm39) |
Y108N |
probably benign |
Het |
Slc3a1 |
A |
G |
17: 85,340,008 (GRCm39) |
M189V |
probably damaging |
Het |
Slc44a1 |
A |
C |
4: 53,528,682 (GRCm39) |
K144T |
probably benign |
Het |
Tbc1d13 |
T |
A |
2: 30,027,393 (GRCm39) |
H100Q |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
Tmem70 |
T |
C |
1: 16,735,556 (GRCm39) |
W9R |
possibly damaging |
Het |
Tspan1 |
A |
G |
4: 116,020,502 (GRCm39) |
|
probably null |
Het |
Unc13a |
T |
C |
8: 72,107,773 (GRCm39) |
|
probably null |
Het |
Uroc1 |
T |
C |
6: 90,323,738 (GRCm39) |
F395S |
probably damaging |
Het |
Uvrag |
A |
C |
7: 98,537,284 (GRCm39) |
L637R |
possibly damaging |
Het |
Vmn1r213 |
T |
G |
13: 23,195,684 (GRCm39) |
L3W |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,238,224 (GRCm39) |
T528I |
probably benign |
Het |
Zfp526 |
C |
T |
7: 24,924,601 (GRCm39) |
Q287* |
probably null |
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 |
R2246:Pramel11
|
UTSW |
4 |
143,623,790 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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'- CTCACCCTTGGATAAAGCTCTC -3'
(R):5'- ATTTGTATCGGTGGGCCAAG -3'
Sequencing Primer
(F):5'- ACCTGAGCATTTGGTCCAG -3'
(R):5'- TATCGGTGGGCCAAGGAGAG -3'
|
Posted On |
2017-02-10 |