Incidental Mutation 'IGL01298:Pramel5'
| ID |
73216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel5
|
| Ensembl Gene |
ENSMUSG00000036749 |
| Gene Name |
PRAME like 5 |
| Synonyms |
OTTMUSG00000010540 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143997203-144007036 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 143997732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035757]
[ENSMUST00000105752]
|
| AlphaFold |
Q7TPY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035757
|
| SMART Domains |
Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105752
|
| SMART Domains |
Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144127
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,760,544 (GRCm39) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
| Atg3 |
T |
C |
16: 44,992,036 (GRCm39) |
M88T |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,444,055 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,537,734 (GRCm39) |
Y70H |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
| Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
| Prss40 |
T |
G |
1: 34,599,847 (GRCm39) |
I47L |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
|
| Other mutations in Pramel5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Pramel5
|
APN |
4 |
143,998,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Pramel5
|
APN |
4 |
144,000,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01070:Pramel5
|
APN |
4 |
143,997,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Pramel5
|
APN |
4 |
144,000,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02150:Pramel5
|
APN |
4 |
143,999,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02278:Pramel5
|
APN |
4 |
143,998,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Pramel5
|
APN |
4 |
143,999,682 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02868:Pramel5
|
APN |
4 |
143,997,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02981:Pramel5
|
APN |
4 |
143,999,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0532:Pramel5
|
UTSW |
4 |
143,999,310 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0646:Pramel5
|
UTSW |
4 |
143,998,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Pramel5
|
UTSW |
4 |
143,998,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Pramel5
|
UTSW |
4 |
144,000,433 (GRCm39) |
nonsense |
probably null |
|
|
R2027:Pramel5
|
UTSW |
4 |
143,998,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Pramel5
|
UTSW |
4 |
143,999,506 (GRCm39) |
nonsense |
probably null |
|
|
R2439:Pramel5
|
UTSW |
4 |
144,000,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3922:Pramel5
|
UTSW |
4 |
143,999,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Pramel5
|
UTSW |
4 |
143,997,915 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4808:Pramel5
|
UTSW |
4 |
143,999,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4969:Pramel5
|
UTSW |
4 |
143,998,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Pramel5
|
UTSW |
4 |
143,998,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5198:Pramel5
|
UTSW |
4 |
144,000,064 (GRCm39) |
intron |
probably benign |
|
|
R5930:Pramel5
|
UTSW |
4 |
143,999,553 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5988:Pramel5
|
UTSW |
4 |
143,999,716 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6662:Pramel5
|
UTSW |
4 |
143,999,675 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6988:Pramel5
|
UTSW |
4 |
144,000,577 (GRCm39) |
start gained |
probably benign |
|
|
R7116:Pramel5
|
UTSW |
4 |
144,000,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7638:Pramel5
|
UTSW |
4 |
143,998,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8247:Pramel5
|
UTSW |
4 |
143,999,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Pramel5
|
UTSW |
4 |
143,999,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9049:Pramel5
|
UTSW |
4 |
144,000,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9402:Pramel5
|
UTSW |
4 |
143,998,026 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9632:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9710:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0028:Pramel5
|
UTSW |
4 |
143,999,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Pramel5
|
UTSW |
4 |
144,000,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation