Incidental Mutation 'R3961:Pramel12'
ID |
312079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel12
|
Ensembl Gene |
ENSMUSG00000046862 |
Gene Name |
PRAME like 12 |
Synonyms |
Pramef8, 4732496O08Rik |
MMRRC Submission |
040836-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R3961 (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 A
at 143145888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 452
(N452K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037356]
[ENSMUST00000059790]
[ENSMUST00000132915]
[ENSMUST00000155157]
|
AlphaFold |
Q8CE24 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037356
AA Change: N452K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041323 Gene: ENSMUSG00000046862 AA Change: N452K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059790
AA Change: N452K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058676 Gene: ENSMUSG00000046862 AA Change: N452K
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
Pdcl |
T |
C |
2: 37,242,199 (GRCm39) |
M184V |
probably benign |
Het |
Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Taf7 |
A |
G |
18: 37,776,174 (GRCm39) |
V131A |
probably benign |
Het |
Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tpte |
A |
G |
8: 22,849,431 (GRCm39) |
S553G |
probably damaging |
Het |
Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGTTCTAAAGGACCTTC -3'
(R):5'- TTGTGGTCTAACCCTCCAGC -3'
Sequencing Primer
(F):5'- GTTCTAAAGGACCTTCTGTATCACAC -3'
(R):5'- CCATTTGGGTTCCCAGATAATGAGC -3'
|
Posted On |
2015-04-29 |