Incidental Mutation 'IGL02867:Pramel6'
ID |
362360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel6
|
Ensembl Gene |
ENSMUSG00000025838 |
Gene Name |
PRAME like 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02867
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
87336909-87341209 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87340736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 356
(Q356L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026956]
[ENSMUST00000111572]
|
AlphaFold |
Q810Y9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026956
AA Change: Q356L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026956 Gene: ENSMUSG00000025838 AA Change: Q356L
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
223 |
411 |
5e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111572
AA Change: Q356L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107198 Gene: ENSMUSG00000025838 AA Change: Q356L
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
223 |
411 |
5e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132216
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150746
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
A |
5: 24,776,149 (GRCm39) |
Y310F |
probably benign |
Het |
Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,981,097 (GRCm39) |
N303K |
probably benign |
Het |
Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
Ccdc125 |
A |
T |
13: 100,820,790 (GRCm39) |
|
probably benign |
Het |
Cxcl16 |
A |
T |
11: 70,349,892 (GRCm39) |
Y45N |
possibly damaging |
Het |
Dnajb3 |
T |
A |
1: 88,133,249 (GRCm39) |
Q51L |
probably benign |
Het |
Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
Fgf11 |
A |
G |
11: 69,690,498 (GRCm39) |
S100P |
possibly damaging |
Het |
Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
A |
T |
15: 6,609,527 (GRCm39) |
Q33H |
probably damaging |
Het |
Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,402 (GRCm39) |
K249E |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,756,668 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
Or1e22 |
A |
G |
11: 73,376,817 (GRCm39) |
Y278H |
probably damaging |
Het |
Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,426,214 (GRCm39) |
|
probably benign |
Het |
Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
A |
G |
12: 79,235,828 (GRCm39) |
V40A |
possibly damaging |
Het |
Rin1 |
C |
T |
19: 5,103,198 (GRCm39) |
R485C |
probably damaging |
Het |
Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
Tas1r1 |
A |
T |
4: 152,112,735 (GRCm39) |
S773T |
probably damaging |
Het |
Trdv5 |
G |
T |
14: 54,386,429 (GRCm39) |
|
probably benign |
Het |
Trpc3 |
A |
C |
3: 36,694,850 (GRCm39) |
D701E |
probably benign |
Het |
Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pramel6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01555:Pramel6
|
APN |
2 |
87,341,129 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03212:Pramel6
|
APN |
2 |
87,340,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Pramel6
|
UTSW |
2 |
87,338,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1905:Pramel6
|
UTSW |
2 |
87,339,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R1905:Pramel6
|
UTSW |
2 |
87,339,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Pramel6
|
UTSW |
2 |
87,339,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R2057:Pramel6
|
UTSW |
2 |
87,339,059 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2073:Pramel6
|
UTSW |
2 |
87,339,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R3423:Pramel6
|
UTSW |
2 |
87,341,140 (GRCm39) |
splice site |
probably null |
|
R3500:Pramel6
|
UTSW |
2 |
87,339,569 (GRCm39) |
missense |
probably damaging |
0.96 |
R4097:Pramel6
|
UTSW |
2 |
87,339,697 (GRCm39) |
missense |
probably benign |
0.19 |
R4396:Pramel6
|
UTSW |
2 |
87,338,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4538:Pramel6
|
UTSW |
2 |
87,338,903 (GRCm39) |
missense |
probably benign |
0.02 |
R4719:Pramel6
|
UTSW |
2 |
87,341,096 (GRCm39) |
missense |
probably benign |
0.00 |
R4779:Pramel6
|
UTSW |
2 |
87,339,941 (GRCm39) |
missense |
probably benign |
0.01 |
R6054:Pramel6
|
UTSW |
2 |
87,339,003 (GRCm39) |
missense |
probably benign |
0.07 |
R6457:Pramel6
|
UTSW |
2 |
87,339,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R6477:Pramel6
|
UTSW |
2 |
87,340,946 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6492:Pramel6
|
UTSW |
2 |
87,340,766 (GRCm39) |
missense |
probably benign |
0.19 |
R6684:Pramel6
|
UTSW |
2 |
87,339,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:Pramel6
|
UTSW |
2 |
87,339,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7351:Pramel6
|
UTSW |
2 |
87,340,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7357:Pramel6
|
UTSW |
2 |
87,340,856 (GRCm39) |
missense |
not run |
|
R7748:Pramel6
|
UTSW |
2 |
87,339,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7991:Pramel6
|
UTSW |
2 |
87,340,031 (GRCm39) |
missense |
probably benign |
0.00 |
R8116:Pramel6
|
UTSW |
2 |
87,338,808 (GRCm39) |
missense |
probably benign |
0.02 |
R8367:Pramel6
|
UTSW |
2 |
87,340,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R8487:Pramel6
|
UTSW |
2 |
87,339,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R9521:Pramel6
|
UTSW |
2 |
87,340,629 (GRCm39) |
nonsense |
probably null |
|
Z1176:Pramel6
|
UTSW |
2 |
87,339,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-12-18 |