Incidental Mutation 'IGL02276:Pramel17'
| ID |
287324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel17
|
| Ensembl Gene |
ENSMUSG00000035201 |
| Gene Name |
PRAME like 17 |
| Synonyms |
B020004J07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101692166-101701219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101695306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 2
(S2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084386]
[ENSMUST00000106919]
|
| AlphaFold |
Q3UTC0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084386
AA Change: S2G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: S2G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106919
AA Change: S2G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: S2G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
| Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
| Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
| Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
| Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
| Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
| Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
| Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
| Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
| Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
| Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
| Other mutations in Pramel17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Pramel17
|
APN |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
IGL01615:Pramel17
|
APN |
4 |
101,694,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01765:Pramel17
|
APN |
4 |
101,695,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02228:Pramel17
|
APN |
4 |
101,694,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02548:Pramel17
|
APN |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Pramel17
|
APN |
4 |
101,692,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0124:Pramel17
|
UTSW |
4 |
101,692,570 (GRCm39) |
makesense |
probably null |
|
|
R0449:Pramel17
|
UTSW |
4 |
101,694,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0573:Pramel17
|
UTSW |
4 |
101,692,611 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1159:Pramel17
|
UTSW |
4 |
101,695,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1689:Pramel17
|
UTSW |
4 |
101,694,376 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1857:Pramel17
|
UTSW |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Pramel17
|
UTSW |
4 |
101,694,135 (GRCm39) |
missense |
probably benign |
|
|
R2570:Pramel17
|
UTSW |
4 |
101,694,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3886:Pramel17
|
UTSW |
4 |
101,692,920 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4922:Pramel17
|
UTSW |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
R4984:Pramel17
|
UTSW |
4 |
101,692,796 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5503:Pramel17
|
UTSW |
4 |
101,692,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6230:Pramel17
|
UTSW |
4 |
101,694,411 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6831:Pramel17
|
UTSW |
4 |
101,694,094 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7172:Pramel17
|
UTSW |
4 |
101,694,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Pramel17
|
UTSW |
4 |
101,695,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7220:Pramel17
|
UTSW |
4 |
101,694,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7253:Pramel17
|
UTSW |
4 |
101,692,725 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7545:Pramel17
|
UTSW |
4 |
101,695,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Pramel17
|
UTSW |
4 |
101,694,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Pramel17
|
UTSW |
4 |
101,694,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8003:Pramel17
|
UTSW |
4 |
101,693,130 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8005:Pramel17
|
UTSW |
4 |
101,694,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Pramel17
|
UTSW |
4 |
101,693,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9125:Pramel17
|
UTSW |
4 |
101,694,073 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9332:Pramel17
|
UTSW |
4 |
101,695,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Pramel17
|
UTSW |
4 |
101,693,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9733:Pramel17
|
UTSW |
4 |
101,692,965 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9775:Pramel17
|
UTSW |
4 |
101,694,244 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation