Incidental Mutation 'IGL03092:Pramel16'
ID |
418426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel16
|
Ensembl Gene |
ENSMUSG00000078511 |
Gene Name |
PRAME like 16 |
Synonyms |
Pramef25, Gm13109 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL03092
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 143676767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 112
(K112N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
AlphaFold |
A2ASI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105766
AA Change: K112N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101392 Gene: ENSMUSG00000078511 AA Change: K112N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
Het |
|
Other mutations in Pramel16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Pramel16
|
APN |
4 |
143,676,784 (GRCm39) |
splice site |
probably benign |
|
IGL01562:Pramel16
|
APN |
4 |
143,677,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02422:Pramel16
|
APN |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02632:Pramel16
|
APN |
4 |
143,676,507 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02745:Pramel16
|
APN |
4 |
143,677,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02808:Pramel16
|
APN |
4 |
143,677,585 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02883:Pramel16
|
APN |
4 |
143,676,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02961:Pramel16
|
APN |
4 |
143,675,717 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4340:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4342:Pramel16
|
UTSW |
4 |
143,676,327 (GRCm39) |
frame shift |
probably null |
|
FR4342:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R0533:Pramel16
|
UTSW |
4 |
143,677,290 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0606:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R1624:Pramel16
|
UTSW |
4 |
143,676,400 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1898:Pramel16
|
UTSW |
4 |
143,677,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R2894:Pramel16
|
UTSW |
4 |
143,675,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Pramel16
|
UTSW |
4 |
143,676,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4298:Pramel16
|
UTSW |
4 |
143,675,713 (GRCm39) |
nonsense |
probably null |
|
R4360:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4361:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5137:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R5195:Pramel16
|
UTSW |
4 |
143,677,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R5312:Pramel16
|
UTSW |
4 |
143,675,665 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5548:Pramel16
|
UTSW |
4 |
143,676,550 (GRCm39) |
missense |
probably benign |
0.24 |
R5591:Pramel16
|
UTSW |
4 |
143,675,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Pramel16
|
UTSW |
4 |
143,675,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6018:Pramel16
|
UTSW |
4 |
143,677,469 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6177:Pramel16
|
UTSW |
4 |
143,675,576 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6335:Pramel16
|
UTSW |
4 |
143,675,602 (GRCm39) |
missense |
probably benign |
0.02 |
R6376:Pramel16
|
UTSW |
4 |
143,677,267 (GRCm39) |
missense |
probably benign |
0.03 |
R6572:Pramel16
|
UTSW |
4 |
143,676,262 (GRCm39) |
missense |
probably benign |
0.01 |
R6845:Pramel16
|
UTSW |
4 |
143,676,394 (GRCm39) |
missense |
probably benign |
|
R6939:Pramel16
|
UTSW |
4 |
143,675,366 (GRCm39) |
missense |
probably benign |
0.09 |
R7081:Pramel16
|
UTSW |
4 |
143,675,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R7505:Pramel16
|
UTSW |
4 |
143,676,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7711:Pramel16
|
UTSW |
4 |
143,675,822 (GRCm39) |
missense |
probably benign |
0.22 |
R8284:Pramel16
|
UTSW |
4 |
143,676,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8297:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R8299:Pramel16
|
UTSW |
4 |
143,677,327 (GRCm39) |
missense |
probably benign |
0.24 |
R8700:Pramel16
|
UTSW |
4 |
143,675,701 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9179:Pramel16
|
UTSW |
4 |
143,676,294 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Pramel16
|
UTSW |
4 |
143,675,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Pramel16
|
UTSW |
4 |
143,675,750 (GRCm39) |
missense |
probably benign |
0.00 |
R9411:Pramel16
|
UTSW |
4 |
143,676,215 (GRCm39) |
missense |
probably damaging |
1.00 |
RF011:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF013:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF021:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Pramel16
|
UTSW |
4 |
143,676,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2016-08-02 |