Incidental Mutation 'R6042:Pramel28'
ID |
483604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
044210-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6042 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 143692631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 123
(D123E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105763
AA Change: D123E
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: D123E
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,224,023 (GRCm39) |
K478M |
probably benign |
Het |
Ankar |
G |
T |
1: 72,713,213 (GRCm39) |
S474* |
probably null |
Het |
Barx2 |
C |
A |
9: 31,758,199 (GRCm39) |
E246D |
probably benign |
Het |
Cdh20 |
A |
T |
1: 110,065,997 (GRCm39) |
Q757L |
probably damaging |
Het |
Cnr1 |
T |
C |
4: 33,944,751 (GRCm39) |
F380L |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,318,317 (GRCm39) |
A655T |
probably benign |
Het |
Col2a1 |
T |
A |
15: 97,898,451 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
C |
T |
16: 59,370,838 (GRCm39) |
R2340Q |
possibly damaging |
Het |
Ctsb |
G |
T |
14: 63,379,305 (GRCm39) |
D306Y |
probably damaging |
Het |
Cyp2a22 |
A |
C |
7: 26,633,664 (GRCm39) |
Y349D |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,117,886 (GRCm39) |
L22S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,966,239 (GRCm39) |
M2476I |
probably damaging |
Het |
Dst |
A |
G |
1: 34,228,053 (GRCm39) |
E1882G |
probably damaging |
Het |
Esrp1 |
T |
C |
4: 11,357,580 (GRCm39) |
K511E |
possibly damaging |
Het |
Fat3 |
T |
A |
9: 16,289,113 (GRCm39) |
T137S |
probably benign |
Het |
Fbxw24 |
T |
A |
9: 109,436,079 (GRCm39) |
M318L |
probably benign |
Het |
Fpr-rs7 |
T |
A |
17: 20,333,477 (GRCm39) |
T338S |
probably benign |
Het |
Gcgr |
T |
C |
11: 120,425,584 (GRCm39) |
M1T |
probably null |
Het |
Grifin |
C |
A |
5: 140,549,311 (GRCm39) |
R135L |
possibly damaging |
Het |
Helz |
T |
C |
11: 107,504,946 (GRCm39) |
|
probably null |
Het |
Hivep3 |
C |
G |
4: 119,955,061 (GRCm39) |
Q1126E |
possibly damaging |
Het |
Htr3a |
T |
A |
9: 48,815,999 (GRCm39) |
H146L |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,707,311 (GRCm39) |
V3081E |
probably damaging |
Het |
Mgat5 |
T |
A |
1: 127,387,636 (GRCm39) |
C531S |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,979,619 (GRCm39) |
D106G |
probably benign |
Het |
Nectin2 |
C |
T |
7: 19,472,063 (GRCm39) |
A109T |
probably benign |
Het |
Olig3 |
T |
C |
10: 19,232,503 (GRCm39) |
S43P |
probably damaging |
Het |
Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
Or8b39 |
T |
A |
9: 37,996,390 (GRCm39) |
V86E |
probably damaging |
Het |
Pcdh12 |
T |
C |
18: 38,414,558 (GRCm39) |
R856G |
probably damaging |
Het |
Phpt1 |
T |
A |
2: 25,464,851 (GRCm39) |
M1L |
probably benign |
Het |
Polr2m |
T |
C |
9: 71,391,080 (GRCm39) |
I41V |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,500,977 (GRCm39) |
V127A |
possibly damaging |
Het |
Rgs7 |
G |
T |
1: 174,977,226 (GRCm39) |
T126K |
probably damaging |
Het |
RP23-399J5.1 |
T |
C |
8: 71,542,571 (GRCm39) |
|
noncoding transcript |
Het |
Rras |
A |
T |
7: 44,669,820 (GRCm39) |
D112V |
probably damaging |
Het |
Sdcbp2 |
T |
A |
2: 151,424,646 (GRCm39) |
Y5* |
probably null |
Het |
Slc43a2 |
T |
C |
11: 75,461,433 (GRCm39) |
F462L |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,684,052 (GRCm39) |
K1436* |
probably null |
Het |
Snrnp27 |
A |
C |
6: 86,659,902 (GRCm39) |
S31A |
unknown |
Het |
Sqstm1 |
A |
C |
11: 50,098,251 (GRCm39) |
F172V |
probably benign |
Het |
Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
Syt10 |
G |
A |
15: 89,725,824 (GRCm39) |
T50I |
probably benign |
Het |
Syt16 |
T |
C |
12: 74,313,504 (GRCm39) |
Y477H |
probably damaging |
Het |
Tacr3 |
A |
T |
3: 134,638,153 (GRCm39) |
T437S |
probably benign |
Het |
Tg |
G |
A |
15: 66,555,842 (GRCm39) |
D845N |
probably benign |
Het |
Uqcc1 |
G |
T |
2: 155,763,564 (GRCm39) |
S36R |
possibly damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,409,391 (GRCm39) |
V239A |
possibly damaging |
Het |
Xpo7 |
T |
A |
14: 70,933,103 (GRCm39) |
Q263L |
possibly damaging |
Het |
Zfp442 |
T |
C |
2: 150,250,016 (GRCm39) |
K572E |
probably damaging |
Het |
Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
probably benign |
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 |
R5059:Pramel28
|
UTSW |
4 |
143,691,565 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- ACAGGTGCAGGAAACCTCTTC -3'
(R):5'- GTTGTTATGTGAAGACCCAGCAC -3'
Sequencing Primer
(F):5'- GGTGCAGGAAACCTCTTCTCTCC -3'
(R):5'- CAGCACTGGAAACTTAAATCTGTAGG -3'
|
Posted On |
2017-07-14 |