Incidental Mutation 'U15987:Pramel27'
| ID |
478355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel27
|
| Ensembl Gene |
ENSMUSG00000029451 |
| Gene Name |
PRAME like 27 |
| Synonyms |
Gm13103 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
U15987 (G0')
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 143578155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 87
(H87Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094522
AA Change: H138Q
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: H138Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105768
AA Change: H138Q
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139747
AA Change: H87Q
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 90.8%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
| Cbfa2t3 |
T |
C |
8: 123,370,236 (GRCm39) |
H53R |
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,287,567 (GRCm39) |
V92A |
probably benign |
Het |
| Dlat |
A |
T |
9: 50,556,417 (GRCm39) |
|
probably null |
Het |
| Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
| Gk5 |
C |
T |
9: 96,058,290 (GRCm39) |
Q424* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
| Nop14 |
T |
C |
5: 34,815,295 (GRCm39) |
D85G |
probably damaging |
Het |
| Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,080 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,975 (GRCm39) |
F299S |
probably damaging |
Het |
|
| Other mutations in Pramel27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Pramel27
|
APN |
4 |
143,579,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01383:Pramel27
|
APN |
4 |
143,573,102 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01735:Pramel27
|
APN |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Pramel27
|
APN |
4 |
143,579,363 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03096:Pramel27
|
APN |
4 |
143,577,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03280:Pramel27
|
APN |
4 |
143,578,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03295:Pramel27
|
APN |
4 |
143,579,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Pramel27
|
UTSW |
4 |
143,578,213 (GRCm39) |
frame shift |
probably null |
|
|
PIT4687001:Pramel27
|
UTSW |
4 |
143,573,103 (GRCm39) |
start gained |
probably benign |
|
|
R0218:Pramel27
|
UTSW |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pramel27
|
UTSW |
4 |
143,578,658 (GRCm39) |
unclassified |
probably benign |
|
|
R1755:Pramel27
|
UTSW |
4 |
143,577,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2510:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2511:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4603:Pramel27
|
UTSW |
4 |
143,579,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4694:Pramel27
|
UTSW |
4 |
143,579,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4856:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4927:Pramel27
|
UTSW |
4 |
143,578,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Pramel27
|
UTSW |
4 |
143,579,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5270:Pramel27
|
UTSW |
4 |
143,578,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5402:Pramel27
|
UTSW |
4 |
143,578,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5618:Pramel27
|
UTSW |
4 |
143,577,263 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6078:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6138:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6362:Pramel27
|
UTSW |
4 |
143,579,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Pramel27
|
UTSW |
4 |
143,579,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Pramel27
|
UTSW |
4 |
143,578,140 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6595:Pramel27
|
UTSW |
4 |
143,579,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Pramel27
|
UTSW |
4 |
143,579,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Pramel27
|
UTSW |
4 |
143,578,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7282:Pramel27
|
UTSW |
4 |
143,578,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7424:Pramel27
|
UTSW |
4 |
143,579,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7511:Pramel27
|
UTSW |
4 |
143,573,116 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7591:Pramel27
|
UTSW |
4 |
143,577,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7868:Pramel27
|
UTSW |
4 |
143,578,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8192:Pramel27
|
UTSW |
4 |
143,578,109 (GRCm39) |
nonsense |
probably null |
|
|
R8244:Pramel27
|
UTSW |
4 |
143,579,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Pramel27
|
UTSW |
4 |
143,578,255 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8531:Pramel27
|
UTSW |
4 |
143,579,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8540:Pramel27
|
UTSW |
4 |
143,579,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8793:Pramel27
|
UTSW |
4 |
143,577,627 (GRCm39) |
intron |
probably benign |
|
|
R8880:Pramel27
|
UTSW |
4 |
143,573,140 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9069:Pramel27
|
UTSW |
4 |
143,578,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9603:Pramel27
|
UTSW |
4 |
143,578,267 (GRCm39) |
missense |
|
|
|
R9748:Pramel27
|
UTSW |
4 |
143,579,892 (GRCm39) |
makesense |
probably null |
|
|
R9797:Pramel27
|
UTSW |
4 |
143,579,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1176:Pramel27
|
UTSW |
4 |
143,579,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGAGGGTTGATTTTAGGCACAG -3'
(R):5'- AAGCTTTGAATTACCAGCTTCCTAC -3'
Sequencing Primer
(F):5'- TTGATTTTAGGCACAGGAAAAAGC -3'
(R):5'- CCAGCTTCCTACAGAATAGATGAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation