Incidental Mutation 'R6845:Pramel16'
ID |
534703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel16
|
Ensembl Gene |
ENSMUSG00000078511 |
Gene Name |
PRAME like 16 |
Synonyms |
Pramef25, Gm13109 |
MMRRC Submission |
044951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6845 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143676394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 237
(T237A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
AlphaFold |
A2ASI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105766
AA Change: T237A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101392 Gene: ENSMUSG00000078511 AA Change: T237A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
95% (53/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
C |
A |
3: 59,659,539 (GRCm39) |
P331T |
probably damaging |
Het |
Adam6a |
T |
C |
12: 113,507,717 (GRCm39) |
L30P |
possibly damaging |
Het |
Cabin1 |
G |
A |
10: 75,557,342 (GRCm39) |
R1099W |
probably damaging |
Het |
Cdon |
C |
T |
9: 35,398,252 (GRCm39) |
Q990* |
probably null |
Het |
Cit |
T |
A |
5: 116,122,947 (GRCm39) |
L1421Q |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,388 (GRCm39) |
S1887P |
possibly damaging |
Het |
Ddx27 |
T |
C |
2: 166,864,016 (GRCm39) |
C242R |
probably damaging |
Het |
Dlgap5 |
A |
T |
14: 47,654,020 (GRCm39) |
V3E |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,110,525 (GRCm39) |
F1687I |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Duoxa1 |
A |
T |
2: 122,135,672 (GRCm39) |
Y142* |
probably null |
Het |
F3 |
A |
G |
3: 121,526,124 (GRCm39) |
K229R |
probably benign |
Het |
Fance |
A |
G |
17: 28,536,565 (GRCm39) |
R42G |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,619 (GRCm39) |
K145E |
probably benign |
Het |
Gpd1l |
T |
C |
9: 114,762,785 (GRCm39) |
M1V |
probably null |
Het |
Gpr149 |
T |
A |
3: 62,511,942 (GRCm39) |
H19L |
possibly damaging |
Het |
Hmgcs1 |
T |
C |
13: 120,162,674 (GRCm39) |
Y213H |
probably damaging |
Het |
Htra1 |
C |
A |
7: 130,538,021 (GRCm39) |
|
probably benign |
Het |
Il20ra |
A |
G |
10: 19,635,059 (GRCm39) |
I433M |
probably benign |
Het |
Il3ra |
G |
C |
14: 14,346,517 (GRCm38) |
|
probably null |
Het |
Kif11 |
C |
T |
19: 37,392,565 (GRCm39) |
L499F |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,835,307 (GRCm39) |
M189T |
probably benign |
Het |
Klk1b3 |
G |
A |
7: 43,851,127 (GRCm39) |
A187T |
probably benign |
Het |
Klre1 |
T |
C |
6: 129,561,202 (GRCm39) |
S188P |
probably damaging |
Het |
Krtap4-13 |
G |
A |
11: 99,700,192 (GRCm39) |
|
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,760,510 (GRCm39) |
T22S |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,145 (GRCm39) |
R661C |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,220,864 (GRCm39) |
D107G |
probably benign |
Het |
Mad1l1 |
C |
A |
5: 139,994,924 (GRCm39) |
A701S |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,231,064 (GRCm39) |
Y1237* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,183,963 (GRCm39) |
D278G |
probably benign |
Het |
Myh6 |
G |
A |
14: 55,182,206 (GRCm39) |
S1734L |
probably benign |
Het |
Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
Nol4l |
T |
C |
2: 153,258,582 (GRCm39) |
T602A |
probably benign |
Het |
Or5b109 |
T |
A |
19: 13,211,997 (GRCm39) |
C128S |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,466,465 (GRCm39) |
H894L |
probably benign |
Het |
Phldb1 |
A |
T |
9: 44,627,359 (GRCm39) |
I362N |
probably damaging |
Het |
Plcxd2 |
T |
A |
16: 45,830,223 (GRCm39) |
|
probably benign |
Het |
Ppp1r13l |
G |
T |
7: 19,105,323 (GRCm39) |
R365L |
probably damaging |
Het |
Rfc1 |
A |
T |
5: 65,468,459 (GRCm39) |
S85T |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,341 (GRCm39) |
V196A |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,432,528 (GRCm39) |
V1016A |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,870,466 (GRCm39) |
D73G |
probably benign |
Het |
Slc34a2 |
T |
A |
5: 53,226,511 (GRCm39) |
F545I |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,775,000 (GRCm38) |
M810K |
probably damaging |
Het |
Ss18 |
A |
T |
18: 14,788,221 (GRCm39) |
M83K |
possibly damaging |
Het |
Tkfc |
T |
C |
19: 10,576,696 (GRCm39) |
R94G |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,668 (GRCm39) |
C757* |
probably null |
Het |
Trav13n-4 |
T |
C |
14: 53,599,856 (GRCm39) |
L11P |
probably damaging |
Het |
Trpm4 |
T |
C |
7: 44,971,753 (GRCm39) |
M138V |
possibly damaging |
Het |
Utp18 |
G |
A |
11: 93,776,582 (GRCm39) |
|
probably benign |
Het |
Vps33a |
A |
G |
5: 123,673,335 (GRCm39) |
V417A |
probably benign |
Het |
Zfp207 |
C |
T |
11: 80,286,317 (GRCm39) |
|
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 |
|
IGL02883:Pramel16
|
APN |
4 |
143,676,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCAGGTTGAGATGCTGG -3'
(R):5'- ACGTTTAAAGGTGGTCACTGAC -3'
Sequencing Primer
(F):5'- CAGGTTGAGATGCTGGAGACTG -3'
(R):5'- GCCTTCAGTTTGATCTAGAGGAAC -3'
|
Posted On |
2018-09-12 |