Incidental Mutation 'IGL03226:Pramel17'
| ID |
414836 |
| 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 # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101692166-101701219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101692594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 469
(T469S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084386]
[ENSMUST00000106919]
|
| AlphaFold |
Q3UTC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084386
AA Change: T469S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: T469S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106919
AA Change: T469S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: T469S
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation