Incidental Mutation 'R5691:Pramel26'
| ID |
443677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel26
|
| Ensembl Gene |
ENSMUSG00000059218 |
| Gene Name |
PRAME like 26 |
| Synonyms |
Gm13084 |
| MMRRC Submission |
043324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143538579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 131
(W131R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
| AlphaFold |
A2A8N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075045
AA Change: W131R
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: W131R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105769
AA Change: W131R
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: W131R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137635
|
| Meta Mutation Damage Score |
0.4486 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410022M11Rik |
A |
G |
14: 57,049,830 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,890,970 (GRCm39) |
M509K |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,653 (GRCm39) |
Y34C |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,904 (GRCm39) |
T182I |
probably benign |
Het |
| Cdc123 |
T |
A |
2: 5,827,986 (GRCm39) |
N87I |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,186,616 (GRCm39) |
E2431G |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,708,154 (GRCm39) |
T521A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,292,149 (GRCm39) |
I55K |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,546,390 (GRCm39) |
T353A |
probably benign |
Het |
| Eqtn |
C |
A |
4: 94,811,965 (GRCm39) |
|
probably null |
Het |
| Ermn |
A |
T |
2: 57,937,776 (GRCm39) |
M279K |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 64,004,118 (GRCm39) |
|
probably null |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,878 (GRCm39) |
D3291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,239,645 (GRCm39) |
W762R |
probably damaging |
Het |
| Idi2l |
A |
T |
13: 8,992,693 (GRCm39) |
Y91* |
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Inpp4b |
T |
A |
8: 82,617,323 (GRCm39) |
|
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Jph1 |
T |
G |
1: 17,074,587 (GRCm39) |
Q477P |
probably benign |
Het |
| Kdm4c |
A |
T |
4: 74,252,965 (GRCm39) |
I511L |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,332,897 (GRCm39) |
D1540G |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,769,648 (GRCm39) |
I168F |
probably damaging |
Het |
| Mgat4e |
A |
T |
1: 134,468,729 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
C |
A |
4: 106,559,815 (GRCm39) |
G704V |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,366,316 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,250,774 (GRCm39) |
C303S |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,611,039 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nubpl |
G |
A |
12: 52,152,059 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
C |
A |
5: 115,037,828 (GRCm39) |
T75K |
possibly damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,616 (GRCm39) |
F62Y |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,683,909 (GRCm39) |
V139A |
probably benign |
Het |
| Pgam5 |
G |
A |
5: 110,414,959 (GRCm39) |
P85S |
probably damaging |
Het |
| Phpt1 |
T |
C |
2: 25,463,707 (GRCm39) |
Y96C |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,355,600 (GRCm39) |
S867A |
possibly damaging |
Het |
| Prss21 |
A |
G |
17: 24,087,759 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,563,254 (GRCm39) |
Y108N |
probably damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,466 (GRCm39) |
T334I |
possibly damaging |
Het |
| Rps3a2 |
G |
T |
14: 88,360,483 (GRCm39) |
|
noncoding transcript |
Het |
| Selenot |
C |
T |
3: 58,493,447 (GRCm39) |
A108V |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,544 (GRCm39) |
M98K |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,904,035 (GRCm39) |
H34R |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,940,581 (GRCm39) |
Y93* |
probably null |
Het |
| Sp3 |
A |
G |
2: 72,801,803 (GRCm39) |
L70S |
probably damaging |
Het |
| Syne2 |
TCCAGGTAGGGCACACC |
TCC |
12: 76,074,630 (GRCm39) |
|
probably null |
Het |
| Tcl1b4 |
C |
A |
12: 105,168,806 (GRCm39) |
D23E |
possibly damaging |
Het |
| Tespa1 |
T |
A |
10: 130,190,638 (GRCm39) |
|
probably null |
Het |
| Tmc7 |
T |
C |
7: 118,141,116 (GRCm39) |
I672V |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,690,700 (GRCm39) |
Q14L |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,507,299 (GRCm39) |
V671A |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,354,952 (GRCm39) |
S1273F |
probably damaging |
Het |
| Zfp90 |
C |
A |
8: 107,151,710 (GRCm39) |
Y474* |
probably null |
Het |
|
| Other mutations in Pramel26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Pramel26
|
APN |
4 |
143,539,293 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01075:Pramel26
|
APN |
4 |
143,538,216 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02705:Pramel26
|
APN |
4 |
143,537,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Pramel26
|
APN |
4 |
143,538,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4498001:Pramel26
|
UTSW |
4 |
143,539,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0268:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0597:Pramel26
|
UTSW |
4 |
143,539,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0646:Pramel26
|
UTSW |
4 |
143,539,155 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0927:Pramel26
|
UTSW |
4 |
143,539,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0973:Pramel26
|
UTSW |
4 |
143,538,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1852:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3699:Pramel26
|
UTSW |
4 |
143,536,922 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3705:Pramel26
|
UTSW |
4 |
143,538,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3845:Pramel26
|
UTSW |
4 |
143,538,545 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4035:Pramel26
|
UTSW |
4 |
143,537,026 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4044:Pramel26
|
UTSW |
4 |
143,538,170 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4439:Pramel26
|
UTSW |
4 |
143,538,143 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4660:Pramel26
|
UTSW |
4 |
143,538,435 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4770:Pramel26
|
UTSW |
4 |
143,538,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4838:Pramel26
|
UTSW |
4 |
143,537,375 (GRCm39) |
nonsense |
probably null |
|
|
R5534:Pramel26
|
UTSW |
4 |
143,539,169 (GRCm39) |
nonsense |
probably null |
|
|
R5893:Pramel26
|
UTSW |
4 |
143,537,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Pramel26
|
UTSW |
4 |
143,539,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6285:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Pramel26
|
UTSW |
4 |
143,539,332 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7105:Pramel26
|
UTSW |
4 |
143,537,341 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7135:Pramel26
|
UTSW |
4 |
143,537,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7594:Pramel26
|
UTSW |
4 |
143,539,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7610:Pramel26
|
UTSW |
4 |
143,539,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Pramel26
|
UTSW |
4 |
143,536,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Pramel26
|
UTSW |
4 |
143,537,290 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7986:Pramel26
|
UTSW |
4 |
143,538,590 (GRCm39) |
nonsense |
probably null |
|
|
R8222:Pramel26
|
UTSW |
4 |
143,536,893 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8328:Pramel26
|
UTSW |
4 |
143,537,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Pramel26
|
UTSW |
4 |
143,538,576 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8887:Pramel26
|
UTSW |
4 |
143,539,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Pramel26
|
UTSW |
4 |
143,536,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9219:Pramel26
|
UTSW |
4 |
143,537,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9291:Pramel26
|
UTSW |
4 |
143,539,251 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9649:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Pramel26
|
UTSW |
4 |
143,536,886 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Pramel26
|
UTSW |
4 |
143,538,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGCCCACTGCAACAAGTAAG -3'
(R):5'- AAGATGGCCTTTGTGCAAAG -3'
Sequencing Primer
(F):5'- GTGGAACATTCATCAAGGTGGCC -3'
(R):5'- CATGGTTTCATTCTAGGCACAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation