Incidental Mutation 'R4538:Pramel6'
| ID |
333401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel6
|
| Ensembl Gene |
ENSMUSG00000025838 |
| Gene Name |
PRAME like 6 |
| Synonyms |
|
| MMRRC Submission |
041775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4538 (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 87338903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 34
(H34Q)
|
| 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: H34Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: H34Q
| 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: H34Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: H34Q
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,096 (GRCm39) |
V61M |
unknown |
Het |
| Abcc9 |
A |
G |
6: 142,560,138 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
T |
1: 165,340,696 (GRCm39) |
M234L |
probably benign |
Het |
| B4galt3 |
T |
C |
1: 171,100,280 (GRCm39) |
F150S |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,097,649 (GRCm39) |
D1377V |
probably damaging |
Het |
| Cope |
T |
A |
8: 70,759,157 (GRCm39) |
I16N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,745 (GRCm39) |
I156N |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,141,290 (GRCm39) |
Y1397H |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,798,822 (GRCm39) |
D289E |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,281,918 (GRCm39) |
Y406C |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,022,756 (GRCm39) |
T949A |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,447,756 (GRCm39) |
V316A |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 93,004,769 (GRCm39) |
V142M |
probably damaging |
Het |
| Kng2 |
C |
A |
16: 22,806,813 (GRCm39) |
R462L |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,545,598 (GRCm39) |
N465K |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,722,334 (GRCm39) |
L2372Q |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,386,784 (GRCm39) |
F159L |
possibly damaging |
Het |
| Mul1 |
T |
C |
4: 138,165,706 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,381 (GRCm39) |
C96* |
probably null |
Het |
| Ripk4 |
A |
T |
16: 97,544,352 (GRCm39) |
L702* |
probably null |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,851 (GRCm39) |
V513A |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,058,651 (GRCm39) |
M245R |
probably damaging |
Het |
| Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trbv17 |
A |
C |
6: 41,140,286 (GRCm39) |
N47T |
probably benign |
Het |
| Washc3 |
T |
A |
10: 88,051,871 (GRCm39) |
S87T |
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 |
|
|
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 |
|
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'- AGGCTTCACACAGCAGAGAG -3'
(R):5'- TGTTACCAGGACATTCAACCC -3'
Sequencing Primer
(F):5'- CAGCACTGATATTTATTGCCCAGAG -3'
(R):5'- GTTACCAGGACATTCAACCCATCAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation