Incidental Mutation 'R3952:Pramel28'
ID |
307985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
040829-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R3952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 143692356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 215
(W215*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105763
AA Change: W215*
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: W215*
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Meta Mutation Damage Score |
0.9560 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Abi3bp |
C |
T |
16: 56,424,401 (GRCm39) |
T450I |
possibly damaging |
Het |
Abl1 |
A |
T |
2: 31,674,549 (GRCm39) |
T213S |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,150,318 (GRCm39) |
R1762W |
probably damaging |
Het |
Arl2 |
G |
T |
19: 6,184,707 (GRCm39) |
T182N |
probably benign |
Het |
Brd8 |
C |
G |
18: 34,747,497 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,508,822 (GRCm39) |
Y666H |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,225,707 (GRCm39) |
V3127A |
possibly damaging |
Het |
Copg1 |
G |
A |
6: 87,882,198 (GRCm39) |
A598T |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Epha1 |
C |
A |
6: 42,341,219 (GRCm39) |
L535F |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,330,548 (GRCm39) |
|
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
A |
T |
16: 35,823,252 (GRCm39) |
T35S |
probably benign |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,489,495 (GRCm39) |
|
probably benign |
Het |
Mrpl48 |
T |
A |
7: 100,209,130 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Or10a3n |
C |
A |
7: 108,493,189 (GRCm39) |
V142L |
probably benign |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,505 (GRCm39) |
I214T |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pla2g6 |
G |
T |
15: 79,197,296 (GRCm39) |
P93T |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rcor1 |
A |
G |
12: 111,006,169 (GRCm39) |
|
probably benign |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
A |
7: 90,030,700 (GRCm39) |
|
probably benign |
Het |
Tia1 |
T |
C |
6: 86,393,319 (GRCm39) |
F53S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,315 (GRCm39) |
N41S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,583,139 (GRCm39) |
I22585V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Vps39 |
C |
T |
2: 120,180,656 (GRCm39) |
R43Q |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,417,111 (GRCm39) |
*603Q |
probably null |
Het |
Zeb1 |
G |
A |
18: 5,772,716 (GRCm39) |
A1002T |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,347,449 (GRCm39) |
|
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 |
|
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 |
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'- TTCATGTGGCCAGTGAGAAAG -3'
(R):5'- ACCCCTTCAGTTTGATCTAGAGG -3'
Sequencing Primer
(F):5'- CAGTCAGGTCGAGATGCTG -3'
(R):5'- CCTTCAGTTTGATCTAGAGGAAAATC -3'
|
Posted On |
2015-04-17 |