Incidental Mutation 'IGL00905:Pramel25'
ID |
27210 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel25
|
Ensembl Gene |
ENSMUSG00000066031 |
Gene Name |
PRAME like 25 |
Synonyms |
MGC:91194, Gm13023 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL00905
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143521844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 487
(T487A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
AlphaFold |
A2A8N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085144
AA Change: T487A
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000082232 Gene: ENSMUSG00000066031 AA Change: T487A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
Other mutations in Pramel25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02098:Pramel25
|
APN |
4 |
143,520,248 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02148:Pramel25
|
APN |
4 |
143,519,304 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
R3087:Pramel25
|
UTSW |
4 |
143,520,416 (GRCm39) |
missense |
probably benign |
0.25 |
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5041:Pramel25
|
UTSW |
4 |
143,520,260 (GRCm39) |
missense |
probably benign |
0.01 |
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
R8840:Pramel25
|
UTSW |
4 |
143,521,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |