Incidental Mutation 'IGL00324:Pramel12'
ID |
6537 |
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 # |
IGL00324
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143138996-143147661 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 143143237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037356]
[ENSMUST00000059790]
[ENSMUST00000132915]
[ENSMUST00000155157]
|
AlphaFold |
Q8CE24 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037356
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041323 Gene: ENSMUSG00000046862 AA Change: M1K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000059790
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058676 Gene: ENSMUSG00000046862 AA Change: M1K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126398
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132915
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155157
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
Other mutations in Pramel12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01483:Pramel12
|
APN |
4 |
143,144,047 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01800:Pramel12
|
APN |
4 |
143,145,650 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |