Incidental Mutation 'R5222:Pramel28'
ID |
402360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel28
|
Ensembl Gene |
ENSMUSG00000078510 |
Gene Name |
PRAME like 28 |
Synonyms |
Gm13101 |
MMRRC Submission |
042795-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143691362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 454
(I454F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
AlphaFold |
A2ASJ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105763
AA Change: I454F
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101389 Gene: ENSMUSG00000078510 AA Change: I454F
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
Meta Mutation Damage Score |
0.1772 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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 |
4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
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 |
R5059:Pramel28
|
UTSW |
4 |
143,691,565 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGACATGTGTTCAGGAACCC -3'
(R):5'- CCCTGAATAAGTGCTCTCAGC -3'
Sequencing Primer
(F):5'- GTGTTCAGGAACCCCTTGATCATAG -3'
(R):5'- CGGTCAACTTCTGTGACAATGAC -3'
|
Posted On |
2016-07-22 |