Incidental Mutation 'IGL01800:Pramel12'
ID |
155481 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel12
|
Ensembl Gene |
ENSMUSG00000046862 |
Gene Name |
PRAME like 12 |
Synonyms |
Pramef8, 4732496O08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL01800
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143138996-143147661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143145650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 373
(L373P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037356]
[ENSMUST00000059790]
[ENSMUST00000132915]
[ENSMUST00000155157]
|
AlphaFold |
Q8CE24 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037356
AA Change: L373P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000041323 Gene: ENSMUSG00000046862 AA Change: L373P
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059790
AA Change: L373P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000058676 Gene: ENSMUSG00000046862 AA Change: L373P
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126398
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155157
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly damaging |
Het |
|
Other mutations in Pramel12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Pramel12
|
APN |
4 |
143,143,237 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL01483:Pramel12
|
APN |
4 |
143,144,047 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02063:Pramel12
|
APN |
4 |
143,144,421 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02216:Pramel12
|
APN |
4 |
143,144,298 (GRCm39) |
splice site |
probably null |
|
IGL02236:Pramel12
|
APN |
4 |
143,143,512 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03013:Pramel12
|
APN |
4 |
143,144,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0658:Pramel12
|
UTSW |
4 |
143,144,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Pramel12
|
UTSW |
4 |
143,144,188 (GRCm39) |
missense |
probably benign |
0.01 |
R2049:Pramel12
|
UTSW |
4 |
143,143,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Pramel12
|
UTSW |
4 |
143,144,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3720:Pramel12
|
UTSW |
4 |
143,145,949 (GRCm39) |
missense |
probably benign |
0.10 |
R3738:Pramel12
|
UTSW |
4 |
143,143,212 (GRCm39) |
utr 5 prime |
probably benign |
|
R3961:Pramel12
|
UTSW |
4 |
143,145,888 (GRCm39) |
missense |
probably benign |
0.00 |
R4583:Pramel12
|
UTSW |
4 |
143,143,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Pramel12
|
UTSW |
4 |
143,145,579 (GRCm39) |
missense |
probably benign |
0.01 |
R5348:Pramel12
|
UTSW |
4 |
143,143,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R5473:Pramel12
|
UTSW |
4 |
143,145,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Pramel12
|
UTSW |
4 |
143,144,229 (GRCm39) |
missense |
probably benign |
0.02 |
R6909:Pramel12
|
UTSW |
4 |
143,144,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Pramel12
|
UTSW |
4 |
143,145,410 (GRCm39) |
missense |
probably benign |
0.00 |
R7777:Pramel12
|
UTSW |
4 |
143,144,331 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8053:Pramel12
|
UTSW |
4 |
143,144,208 (GRCm39) |
missense |
probably benign |
0.01 |
R8218:Pramel12
|
UTSW |
4 |
143,145,706 (GRCm39) |
missense |
probably benign |
0.01 |
R8345:Pramel12
|
UTSW |
4 |
143,143,438 (GRCm39) |
missense |
probably benign |
0.18 |
R8963:Pramel12
|
UTSW |
4 |
143,144,229 (GRCm39) |
missense |
probably benign |
0.02 |
R9047:Pramel12
|
UTSW |
4 |
143,145,673 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9395:Pramel12
|
UTSW |
4 |
143,145,605 (GRCm39) |
missense |
probably benign |
0.23 |
R9570:Pramel12
|
UTSW |
4 |
143,144,514 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2014-02-04 |