Incidental Mutation 'R4097:Pramel6'
| ID |
317154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel6
|
| Ensembl Gene |
ENSMUSG00000025838 |
| Gene Name |
PRAME like 6 |
| Synonyms |
|
| MMRRC Submission |
040984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87336909-87341209 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87339697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 154
(F154V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026956]
[ENSMUST00000111572]
|
| AlphaFold |
Q810Y9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026956
AA Change: F154V
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: F154V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
223 |
411 |
5e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111572
AA Change: F154V
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: F154V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,348,228 (GRCm39) |
F292L |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,578,703 (GRCm39) |
D664G |
possibly damaging |
Het |
| Bbs1 |
T |
A |
19: 4,947,345 (GRCm39) |
Y358F |
probably damaging |
Het |
| Becn1 |
C |
T |
11: 101,185,092 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,647,265 (GRCm39) |
N47I |
possibly damaging |
Het |
| Clec4n |
A |
T |
6: 123,207,700 (GRCm39) |
H55L |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,478,939 (GRCm39) |
I222V |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,871 (GRCm39) |
E370G |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,480 (GRCm39) |
V413E |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,362 (GRCm39) |
L249F |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,881,285 (GRCm39) |
S146G |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,778,852 (GRCm39) |
L315* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,003 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,328,953 (GRCm39) |
V775A |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,787 (GRCm39) |
E69G |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,765,047 (GRCm39) |
R665S |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,253,937 (GRCm39) |
H1065L |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,151,671 (GRCm39) |
Q503* |
probably null |
Het |
| Nt5dc3 |
G |
A |
10: 86,669,820 (GRCm39) |
A472T |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
| Ralb |
T |
C |
1: 119,411,228 (GRCm39) |
D37G |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,574,733 (GRCm39) |
Y412N |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,538 (GRCm39) |
D395V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpine3 |
T |
A |
14: 62,908,395 (GRCm39) |
L141Q |
probably damaging |
Het |
| Sgpl1 |
C |
T |
10: 60,939,017 (GRCm39) |
G394D |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,412,951 (GRCm39) |
Y44C |
probably damaging |
Het |
| Slc6a20b |
A |
G |
9: 123,441,822 (GRCm39) |
|
probably benign |
Het |
| Snapc5 |
T |
C |
9: 64,087,809 (GRCm39) |
I40T |
probably damaging |
Het |
| Spopl |
T |
C |
2: 23,401,413 (GRCm39) |
H365R |
probably benign |
Het |
| Stil |
T |
A |
4: 114,880,797 (GRCm39) |
I447N |
probably benign |
Het |
| Taf3 |
C |
A |
2: 9,957,178 (GRCm39) |
V330F |
possibly damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,784 (GRCm39) |
E232G |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,065,595 (GRCm39) |
L729P |
probably damaging |
Het |
| Tmem269 |
A |
T |
4: 119,062,977 (GRCm39) |
F220Y |
probably damaging |
Het |
| Tnrc18 |
ATCTTCC |
A |
5: 142,759,561 (GRCm39) |
|
probably benign |
Het |
| Ubxn6 |
T |
C |
17: 56,376,712 (GRCm39) |
T227A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,088,504 (GRCm39) |
R1182I |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,010,352 (GRCm39) |
I550V |
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,964,532 (GRCm39) |
N637S |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,381 (GRCm39) |
T762A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGGTGCAAACTCAGAGTC -3'
(R):5'- CCAGGTAAGGATCAAGTTCTTCC -3'
Sequencing Primer
(F):5'- GCAAACTCAGAGTCCTTGATTTGAGG -3'
(R):5'- GGATCAAGTTCTTCCAGGACTTCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation