Incidental Mutation 'IGL03295:Pramel27'
| ID |
416038 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel27
|
| Ensembl Gene |
ENSMUSG00000029451 |
| Gene Name |
PRAME like 27 |
| Synonyms |
Gm13103 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143579759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 448
(C448Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094522
AA Change: C448Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: C448Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139747
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
| Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
possibly damaging |
Het |
|
| Other mutations in Pramel27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Pramel27
|
APN |
4 |
143,579,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01383:Pramel27
|
APN |
4 |
143,573,102 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01735:Pramel27
|
APN |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Pramel27
|
APN |
4 |
143,579,363 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03096:Pramel27
|
APN |
4 |
143,577,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03280:Pramel27
|
APN |
4 |
143,578,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
FR4342:Pramel27
|
UTSW |
4 |
143,578,213 (GRCm39) |
frame shift |
probably null |
|
|
PIT4687001:Pramel27
|
UTSW |
4 |
143,573,103 (GRCm39) |
start gained |
probably benign |
|
|
R0218:Pramel27
|
UTSW |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pramel27
|
UTSW |
4 |
143,578,658 (GRCm39) |
unclassified |
probably benign |
|
|
R1755:Pramel27
|
UTSW |
4 |
143,577,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2510:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2511:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4603:Pramel27
|
UTSW |
4 |
143,579,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4694:Pramel27
|
UTSW |
4 |
143,579,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4856:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4927:Pramel27
|
UTSW |
4 |
143,578,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Pramel27
|
UTSW |
4 |
143,579,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5270:Pramel27
|
UTSW |
4 |
143,578,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5402:Pramel27
|
UTSW |
4 |
143,578,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5618:Pramel27
|
UTSW |
4 |
143,577,263 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6078:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6138:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6362:Pramel27
|
UTSW |
4 |
143,579,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Pramel27
|
UTSW |
4 |
143,579,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Pramel27
|
UTSW |
4 |
143,578,140 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6595:Pramel27
|
UTSW |
4 |
143,579,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Pramel27
|
UTSW |
4 |
143,579,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Pramel27
|
UTSW |
4 |
143,578,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7282:Pramel27
|
UTSW |
4 |
143,578,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7424:Pramel27
|
UTSW |
4 |
143,579,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7511:Pramel27
|
UTSW |
4 |
143,573,116 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7591:Pramel27
|
UTSW |
4 |
143,577,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7868:Pramel27
|
UTSW |
4 |
143,578,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8192:Pramel27
|
UTSW |
4 |
143,578,109 (GRCm39) |
nonsense |
probably null |
|
|
R8244:Pramel27
|
UTSW |
4 |
143,579,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Pramel27
|
UTSW |
4 |
143,578,255 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8531:Pramel27
|
UTSW |
4 |
143,579,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8540:Pramel27
|
UTSW |
4 |
143,579,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8793:Pramel27
|
UTSW |
4 |
143,577,627 (GRCm39) |
intron |
probably benign |
|
|
R8880:Pramel27
|
UTSW |
4 |
143,573,140 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9069:Pramel27
|
UTSW |
4 |
143,578,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9603:Pramel27
|
UTSW |
4 |
143,578,267 (GRCm39) |
missense |
|
|
|
R9748:Pramel27
|
UTSW |
4 |
143,579,892 (GRCm39) |
makesense |
probably null |
|
|
R9797:Pramel27
|
UTSW |
4 |
143,579,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
U15987:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1176:Pramel27
|
UTSW |
4 |
143,579,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2016-08-02 |
Incidental Mutation