Incidental Mutation 'IGL01615:Pramel17'
ID |
92352 |
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 # |
IGL01615
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
101692166-101701219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101694201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 227
(R227S)
|
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: R227S
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081421 Gene: ENSMUSG00000035201 AA Change: R227S
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106919
AA Change: R227S
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102532 Gene: ENSMUSG00000035201 AA Change: R227S
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
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 |
|
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 |
IGL02276:Pramel17
|
APN |
4 |
101,695,306 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
2013-12-09 |