Incidental Mutation 'IGL02883:Pramel16'
ID |
362865 |
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 # |
IGL02883
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143676418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
AlphaFold |
A2ASI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105766
AA Change: T229A
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101392 Gene: ENSMUSG00000078511 AA Change: T229A
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
probably benign |
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 |
|
IGL02961:Pramel16
|
APN |
4 |
143,675,717 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Pramel16
|
APN |
4 |
143,676,767 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2015-12-18 |