Incidental Mutation 'IGL01704:Pramel11'
ID |
104521 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel11
|
Ensembl Gene |
ENSMUSG00000078512 |
Gene Name |
PRAME like 11 |
Synonyms |
Gm13099, Pramef6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL01704
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 143622201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 385
(D385N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
AlphaFold |
A2A8M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081645
AA Change: D385N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080350 Gene: ENSMUSG00000078512 AA Change: D385N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: D385N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101393 Gene: ENSMUSG00000078512 AA Change: D385N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
Het |
|
Other mutations in Pramel11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-01-21 |