Incidental Mutation 'IGL01363:Pramel27'
| ID |
75831 |
| 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: 0.068)
|
| Stock # |
IGL01363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143579846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 477
(Y477F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094522
AA Change: Y477F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: Y477F
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,483 (GRCm39) |
F23S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,096,228 (GRCm39) |
V528A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,705,184 (GRCm39) |
V1542A |
probably damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,833,396 (GRCm39) |
|
probably null |
Het |
| Ang4 |
G |
T |
14: 52,001,636 (GRCm39) |
T104K |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,123,876 (GRCm39) |
C532* |
probably null |
Het |
| Bnip3 |
G |
A |
7: 138,499,777 (GRCm39) |
T70I |
probably benign |
Het |
| Cast |
T |
C |
13: 74,852,311 (GRCm39) |
E644G |
possibly damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,194,390 (GRCm39) |
C125* |
probably null |
Het |
| Crb2 |
C |
A |
2: 37,683,845 (GRCm39) |
R1116S |
probably benign |
Het |
| Cyp2c67 |
T |
G |
19: 39,628,411 (GRCm39) |
I178L |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,691,871 (GRCm39) |
M351L |
probably benign |
Het |
| Dusp1 |
G |
A |
17: 26,725,264 (GRCm39) |
P365L |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,559,652 (GRCm39) |
L492P |
probably damaging |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,083 (GRCm39) |
S48G |
probably damaging |
Het |
| Isyna1 |
G |
A |
8: 71,047,372 (GRCm39) |
V32I |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,441,726 (GRCm39) |
N695Y |
possibly damaging |
Het |
| Klra8 |
T |
C |
6: 130,092,561 (GRCm39) |
T247A |
probably benign |
Het |
| Mak |
G |
A |
13: 41,206,853 (GRCm39) |
|
probably benign |
Het |
| Minar2 |
G |
A |
18: 59,205,380 (GRCm39) |
G98D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,685,022 (GRCm39) |
T516S |
possibly damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,400,084 (GRCm39) |
T939K |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,325,667 (GRCm39) |
T1037A |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,240,999 (GRCm39) |
T39A |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,676,799 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,760,877 (GRCm39) |
V250M |
probably damaging |
Het |
| Pgap2 |
T |
G |
7: 101,875,489 (GRCm39) |
M1R |
probably null |
Het |
| Phlpp2 |
T |
C |
8: 110,663,729 (GRCm39) |
F923L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,925,470 (GRCm39) |
M739K |
probably benign |
Het |
| Pramel1 |
A |
G |
4: 143,123,955 (GRCm39) |
Y210C |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,977,780 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
T |
1: 6,320,333 (GRCm39) |
L1251F |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,042,238 (GRCm39) |
Y238F |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,088,852 (GRCm39) |
L534P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,713 (GRCm39) |
F1540L |
possibly damaging |
Het |
| Tmem200b |
C |
A |
4: 131,649,704 (GRCm39) |
P208Q |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,179,441 (GRCm39) |
L14P |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,991,728 (GRCm39) |
I623N |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,020 (GRCm39) |
N173D |
probably benign |
Het |
|
| Other mutations in Pramel27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03295:Pramel27
|
APN |
4 |
143,579,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation