Incidental Mutation 'IGL00839:Pramel26'
ID |
10990 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel26
|
Ensembl Gene |
ENSMUSG00000059218 |
Gene Name |
PRAME like 26 |
Synonyms |
Gm13084 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL00839
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143539293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
AlphaFold |
A2A8N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075045
AA Change: T67A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000074557 Gene: ENSMUSG00000059218 AA Change: T67A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105769
AA Change: T67A
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101395 Gene: ENSMUSG00000059218 AA Change: T67A
Domain | Start | End | E-Value | Type |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137635
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
T |
14: 32,382,873 (GRCm39) |
S1031T |
probably benign |
Het |
a |
T |
A |
2: 154,887,593 (GRCm39) |
F18I |
probably benign |
Het |
Acsl4 |
A |
T |
X: 141,122,948 (GRCm39) |
N421K |
possibly damaging |
Het |
Ampd1 |
A |
G |
3: 103,007,010 (GRCm39) |
E745G |
possibly damaging |
Het |
Ankrd44 |
T |
C |
1: 54,706,594 (GRCm39) |
N436D |
probably benign |
Het |
Ap1s2 |
A |
G |
X: 162,709,951 (GRCm39) |
Y160C |
probably damaging |
Het |
Bms1 |
C |
T |
6: 118,382,252 (GRCm39) |
V429M |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,607,089 (GRCm39) |
E158G |
probably damaging |
Het |
Cldn34b4 |
T |
A |
X: 75,440,955 (GRCm39) |
C71S |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,531,095 (GRCm39) |
|
probably benign |
Het |
Crisp3 |
T |
G |
17: 40,550,147 (GRCm39) |
|
probably null |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Defa24 |
T |
A |
8: 22,224,713 (GRCm39) |
L54H |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,706,994 (GRCm39) |
V504A |
probably benign |
Het |
Eloa |
G |
A |
4: 135,738,670 (GRCm39) |
R97C |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,228,982 (GRCm39) |
|
probably benign |
Het |
Fgb |
T |
A |
3: 82,950,598 (GRCm39) |
R385S |
possibly damaging |
Het |
Glod4 |
T |
A |
11: 76,124,104 (GRCm39) |
H223L |
probably benign |
Het |
Hrh1 |
C |
T |
6: 114,457,283 (GRCm39) |
T188I |
probably damaging |
Het |
Hsph1 |
G |
T |
5: 149,541,919 (GRCm39) |
A769D |
possibly damaging |
Het |
Jak2 |
C |
T |
19: 29,279,047 (GRCm39) |
P933S |
probably damaging |
Het |
Lrrd1 |
T |
A |
5: 3,900,017 (GRCm39) |
D107E |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,127,371 (GRCm39) |
S776R |
probably benign |
Het |
Pcna |
C |
T |
2: 132,093,340 (GRCm39) |
V136I |
probably benign |
Het |
Pde11a |
A |
G |
2: 76,045,729 (GRCm39) |
F365S |
probably damaging |
Het |
Pi15 |
A |
G |
1: 17,691,747 (GRCm39) |
H183R |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,687,006 (GRCm39) |
Y638C |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,592,299 (GRCm39) |
D1196G |
probably benign |
Het |
Psg22 |
A |
G |
7: 18,456,893 (GRCm39) |
I220V |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,328,274 (GRCm39) |
Y97N |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,909,174 (GRCm39) |
C690* |
probably null |
Het |
Taf3 |
A |
T |
2: 9,957,728 (GRCm39) |
D146E |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,605,011 (GRCm39) |
T49A |
possibly damaging |
Het |
Trdn |
T |
C |
10: 33,347,602 (GRCm39) |
|
probably null |
Het |
Ttc29 |
C |
T |
8: 79,060,385 (GRCm39) |
T435I |
probably benign |
Het |
Vps37b |
T |
C |
5: 124,148,814 (GRCm39) |
T74A |
possibly damaging |
Het |
Zbtb11 |
T |
A |
16: 55,820,965 (GRCm39) |
Y687* |
probably null |
Het |
|
Other mutations in Pramel26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R5691:Pramel26
|
UTSW |
4 |
143,538,579 (GRCm39) |
missense |
probably benign |
0.44 |
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 |
|
Posted On |
2012-12-06 |