Incidental Mutation 'R6604:Pramel28'
ID |
525529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
044727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6604 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143692567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 145
(R145G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105763
AA Change: R145G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: R145G
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably damaging |
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 |
|
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 |
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'- CAACTCCTCAATGCAATATGGTTGG -3'
(R):5'- AAGCTGGCTAATGTGTCTGG -3'
Sequencing Primer
(F):5'- GAAAATCTGCAAGATCTTCCTGACAG -3'
(R):5'- AATGTGTCTGGTCTTTTGTATCTTCC -3'
|
Posted On |
2018-06-22 |