Incidental Mutation 'R7244:Pramel28'
ID |
563404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
045308-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R7244 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143692455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 182
(M182K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105763
AA Change: M182K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: M182K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,035,953 (GRCm39) |
V319A |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
Mybl2 |
C |
T |
2: 162,924,605 (GRCm39) |
P658S |
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
Nadk2 |
A |
G |
15: 9,083,271 (GRCm39) |
|
probably null |
Het |
Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
Prom1 |
T |
A |
5: 44,178,242 (GRCm39) |
I497L |
probably benign |
Het |
Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
Sema5b |
A |
T |
16: 35,480,915 (GRCm39) |
T829S |
probably benign |
Het |
Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
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 |
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 |
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'- CTCATGGACTAGTGTTAGATGGAG -3'
(R):5'- TGTGCACCATCACTTCTGGG -3'
Sequencing Primer
(F):5'- ATGGACTAGTGTTAGATGGAGTTTAC -3'
(R):5'- ATGTTTCAGCTGGACCAGAG -3'
|
Posted On |
2019-06-26 |