Incidental Mutation 'R5348:Pramel12'
ID |
422725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel12
|
Ensembl Gene |
ENSMUSG00000046862 |
Gene Name |
PRAME like 12 |
Synonyms |
Pramef8, 4732496O08Rik |
MMRRC Submission |
042927-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143138996-143147661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143143351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 39
(L39P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037356]
[ENSMUST00000059790]
[ENSMUST00000132915]
[ENSMUST00000155157]
|
AlphaFold |
Q8CE24 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037356
AA Change: L39P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041323 Gene: ENSMUSG00000046862 AA Change: L39P
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059790
AA Change: L39P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058676 Gene: ENSMUSG00000046862 AA Change: L39P
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126398
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132915
AA Change: L39P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155157
AA Change: L39P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACGTAGCCTCCTGTATGC -3'
(R):5'- CTGCAGTCTTCAAAATGACACC -3'
Sequencing Primer
(F):5'- ATGCTTCACCAGGATCCTTGACAC -3'
(R):5'- GTCTTGCTTACCTGGGAAGAACC -3'
|
Posted On |
2016-08-04 |