Incidental Mutation 'R5618:Pramel27'
ID |
439625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel27
|
Ensembl Gene |
ENSMUSG00000029451 |
Gene Name |
PRAME like 27 |
Synonyms |
Gm13103 |
MMRRC Submission |
043277-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R5618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143577263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 15
(E15V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
AlphaFold |
Q4VAD2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094522
AA Change: E15V
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092099 Gene: ENSMUSG00000029451 AA Change: E15V
Domain | Start | End | E-Value | Type |
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105768
AA Change: E15V
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139747
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
Fez1 |
A |
T |
9: 36,755,228 (GRCm39) |
N76Y |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
Ift88 |
T |
C |
14: 57,718,965 (GRCm39) |
I650T |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
Sema7a |
A |
T |
9: 57,867,566 (GRCm39) |
E439D |
possibly damaging |
Het |
Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,199,787 (GRCm39) |
L452F |
probably benign |
Het |
Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
possibly damaging |
Het |
Zfp473 |
T |
A |
7: 44,391,156 (GRCm39) |
D6V |
probably benign |
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 |
|
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 |
U15987:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
Z1176:Pramel27
|
UTSW |
4 |
143,579,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCCAAGCAGTTCTGGATTAG -3'
(R):5'- CCACTCAGGTATCATGGCCTTC -3'
Sequencing Primer
(F):5'- TCTCAGCCTTTGGGAAGTAAAAGC -3'
(R):5'- CAGGTATCATGGCCTTCAAGATC -3'
|
Posted On |
2016-11-08 |