Incidental Mutation 'R5059:Pramel28'
ID |
386506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
042649-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5059 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143691565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 386
(V386A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105763
AA Change: V386A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: V386A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
T |
A |
8: 43,973,637 (GRCm39) |
N455I |
probably damaging |
Het |
Alg12 |
A |
G |
15: 88,695,659 (GRCm39) |
F279S |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,776,360 (GRCm39) |
D296G |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,586,204 (GRCm39) |
S437T |
probably damaging |
Het |
Apol7a |
G |
A |
15: 77,274,012 (GRCm39) |
|
probably benign |
Het |
Arhgef38 |
T |
A |
3: 132,843,175 (GRCm39) |
Y465F |
probably damaging |
Het |
Atp8a2 |
T |
G |
14: 59,928,986 (GRCm39) |
T1023P |
probably benign |
Het |
Cdh20 |
C |
A |
1: 109,993,430 (GRCm39) |
A295E |
probably damaging |
Het |
Cela3b |
T |
C |
4: 137,152,181 (GRCm39) |
E92G |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,356,224 (GRCm39) |
S752P |
probably benign |
Het |
Dlx2 |
T |
C |
2: 71,376,585 (GRCm39) |
H51R |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,415,874 (GRCm39) |
I736T |
probably damaging |
Het |
Dst |
A |
G |
1: 34,202,427 (GRCm39) |
T252A |
possibly damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,658 (GRCm39) |
R151G |
possibly damaging |
Het |
Gapdhs |
C |
T |
7: 30,431,410 (GRCm39) |
A357T |
probably benign |
Het |
Gon4l |
T |
A |
3: 88,807,319 (GRCm39) |
M1671K |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,907,113 (GRCm39) |
Y327C |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,214,503 (GRCm39) |
R542G |
probably benign |
Het |
Hectd3 |
A |
G |
4: 116,854,361 (GRCm39) |
K308E |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,478,675 (GRCm39) |
F178S |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,232,401 (GRCm39) |
D1640G |
probably damaging |
Het |
Il18r1 |
G |
A |
1: 40,520,227 (GRCm39) |
|
probably null |
Het |
Kdm3b |
T |
C |
18: 34,910,250 (GRCm39) |
S23P |
possibly damaging |
Het |
Lactb |
T |
C |
9: 66,882,426 (GRCm39) |
E83G |
probably benign |
Het |
Larp4 |
A |
T |
15: 99,903,171 (GRCm39) |
D414V |
probably damaging |
Het |
Map2k5 |
T |
C |
9: 63,164,296 (GRCm39) |
H336R |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,887,071 (GRCm39) |
E1006G |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,146,467 (GRCm39) |
S226P |
probably damaging |
Het |
Micall1 |
A |
T |
15: 79,007,034 (GRCm39) |
|
probably benign |
Het |
Mtpap |
T |
A |
18: 4,375,827 (GRCm39) |
|
probably benign |
Het |
Or52ae7 |
A |
T |
7: 103,119,488 (GRCm39) |
K81* |
probably null |
Het |
Or5p58 |
A |
G |
7: 107,694,522 (GRCm39) |
L85P |
probably damaging |
Het |
Pnrc1 |
G |
A |
4: 33,246,072 (GRCm39) |
Q296* |
probably null |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Prkcsh |
T |
A |
9: 21,924,046 (GRCm39) |
L439Q |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,655,882 (GRCm39) |
L3970P |
probably damaging |
Het |
Ptcd1 |
G |
A |
5: 145,089,034 (GRCm39) |
P542L |
probably benign |
Het |
Rps6ka5 |
G |
A |
12: 100,520,634 (GRCm39) |
T631I |
probably damaging |
Het |
Rxfp1 |
T |
C |
3: 79,570,619 (GRCm39) |
N271S |
probably benign |
Het |
Taf6 |
A |
G |
5: 138,177,709 (GRCm39) |
M541T |
probably benign |
Het |
Tek |
T |
A |
4: 94,692,551 (GRCm39) |
C169S |
probably benign |
Het |
Tgfbr3l |
T |
A |
8: 4,299,343 (GRCm39) |
|
probably null |
Het |
Trpv3 |
A |
G |
11: 73,186,149 (GRCm39) |
N647D |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,836,293 (GRCm39) |
K638R |
probably null |
Het |
Vmn1r191 |
G |
A |
13: 22,363,163 (GRCm39) |
A197V |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,445,044 (GRCm39) |
T894A |
possibly damaging |
Het |
Vstm4 |
T |
G |
14: 32,585,687 (GRCm39) |
Y85D |
probably damaging |
Het |
Wnt7a |
A |
G |
6: 91,371,482 (GRCm39) |
I160T |
probably benign |
Het |
Zc3h7a |
TAGAGAG |
TAGAGAGAG |
16: 10,978,985 (GRCm39) |
|
probably null |
Het |
Zfp988 |
A |
T |
4: 147,416,372 (GRCm39) |
K269* |
probably null |
Het |
|
Other mutations in Pramel28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Pramel28
|
APN |
4 |
143,693,184 (GRCm39) |
splice site |
probably benign |
|
IGL00688:Pramel28
|
APN |
4 |
143,692,392 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL00690:Pramel28
|
APN |
4 |
143,692,392 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL00693:Pramel28
|
APN |
4 |
143,692,392 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL00694:Pramel28
|
APN |
4 |
143,692,392 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01412:Pramel28
|
APN |
4 |
143,691,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01781:Pramel28
|
APN |
4 |
143,692,299 (GRCm39) |
missense |
probably benign |
|
IGL02426:Pramel28
|
APN |
4 |
143,693,229 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02508:Pramel28
|
APN |
4 |
143,691,590 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03338:Pramel28
|
APN |
4 |
143,692,608 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03338:Pramel28
|
APN |
4 |
143,692,411 (GRCm39) |
missense |
probably benign |
0.01 |
R0201:Pramel28
|
UTSW |
4 |
143,691,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Pramel28
|
UTSW |
4 |
143,693,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Pramel28
|
UTSW |
4 |
143,691,653 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1471:Pramel28
|
UTSW |
4 |
143,691,523 (GRCm39) |
missense |
probably benign |
0.25 |
R1544:Pramel28
|
UTSW |
4 |
143,692,632 (GRCm39) |
missense |
probably benign |
0.00 |
R1891:Pramel28
|
UTSW |
4 |
143,693,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Pramel28
|
UTSW |
4 |
143,692,637 (GRCm39) |
missense |
probably benign |
0.00 |
R2105:Pramel28
|
UTSW |
4 |
143,692,390 (GRCm39) |
missense |
probably benign |
|
R2939:Pramel28
|
UTSW |
4 |
143,693,247 (GRCm39) |
missense |
probably benign |
0.00 |
R2940:Pramel28
|
UTSW |
4 |
143,693,247 (GRCm39) |
missense |
probably benign |
0.00 |
R3723:Pramel28
|
UTSW |
4 |
143,693,251 (GRCm39) |
missense |
probably benign |
|
R3952:Pramel28
|
UTSW |
4 |
143,692,356 (GRCm39) |
nonsense |
probably null |
|
R4028:Pramel28
|
UTSW |
4 |
143,692,354 (GRCm39) |
missense |
probably benign |
0.02 |
R4029:Pramel28
|
UTSW |
4 |
143,692,354 (GRCm39) |
missense |
probably benign |
0.02 |
R4030:Pramel28
|
UTSW |
4 |
143,692,354 (GRCm39) |
missense |
probably benign |
0.02 |
R5222:Pramel28
|
UTSW |
4 |
143,691,362 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5591:Pramel28
|
UTSW |
4 |
143,691,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Pramel28
|
UTSW |
4 |
143,691,708 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6021:Pramel28
|
UTSW |
4 |
143,692,336 (GRCm39) |
missense |
probably benign |
|
R6042:Pramel28
|
UTSW |
4 |
143,692,631 (GRCm39) |
missense |
probably benign |
0.04 |
R6155:Pramel28
|
UTSW |
4 |
143,691,712 (GRCm39) |
missense |
probably benign |
0.00 |
R6604:Pramel28
|
UTSW |
4 |
143,692,567 (GRCm39) |
missense |
probably benign |
0.02 |
R6807:Pramel28
|
UTSW |
4 |
143,691,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Pramel28
|
UTSW |
4 |
143,692,455 (GRCm39) |
missense |
probably benign |
|
R7505:Pramel28
|
UTSW |
4 |
143,691,556 (GRCm39) |
missense |
probably benign |
0.00 |
R7526:Pramel28
|
UTSW |
4 |
143,692,387 (GRCm39) |
missense |
probably benign |
0.00 |
R8121:Pramel28
|
UTSW |
4 |
143,691,611 (GRCm39) |
missense |
probably benign |
0.01 |
R8408:Pramel28
|
UTSW |
4 |
143,692,212 (GRCm39) |
missense |
probably benign |
|
R8890:Pramel28
|
UTSW |
4 |
143,691,494 (GRCm39) |
missense |
probably benign |
0.10 |
R8989:Pramel28
|
UTSW |
4 |
143,691,770 (GRCm39) |
missense |
probably benign |
0.04 |
R9054:Pramel28
|
UTSW |
4 |
143,692,314 (GRCm39) |
missense |
probably benign |
0.18 |
R9622:Pramel28
|
UTSW |
4 |
143,692,348 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Pramel28
|
UTSW |
4 |
143,692,132 (GRCm39) |
missense |
probably benign |
|
Z1177:Pramel28
|
UTSW |
4 |
143,692,345 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Pramel28
|
UTSW |
4 |
143,692,161 (GRCm39) |
missense |
probably benign |
0.42 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTAACAGTGCAAAGTGTG -3'
(R):5'- TTGCCCAGTGTCAGAGTCTC -3'
Sequencing Primer
(F):5'- CAAAGTGTGTTCATGAGCTCAG -3'
(R):5'- ATCTCAAACACCTGCATTTGG -3'
|
Posted On |
2016-06-06 |