Incidental Mutation 'R6684:Pramel6'
ID |
527601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel6
|
Ensembl Gene |
ENSMUSG00000025838 |
Gene Name |
PRAME like 6 |
Synonyms |
|
MMRRC Submission |
044803-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R6684 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
87336909-87341209 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87339748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 171
(W171R)
|
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: W171R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026956 Gene: ENSMUSG00000025838 AA Change: W171R
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: W171R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107198 Gene: ENSMUSG00000025838 AA Change: W171R
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
|
Meta Mutation Damage Score |
0.4878 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
94% (33/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
probably damaging |
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 |
|
IGL02867:Pramel6
|
APN |
2 |
87,340,736 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCACCATGACTTCTGGAG -3'
(R):5'- TCCCTCTAACATGAGTGTGTG -3'
Sequencing Primer
(F):5'- CTTCTGGAGCATACAGACTGGATC -3'
(R):5'- TTCATTCCCTCCAGGTAAGGATCAAG -3'
|
Posted On |
2018-07-23 |