Incidental Mutation 'R4477:Pramel20'
| ID |
331307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel20
|
| Ensembl Gene |
ENSMUSG00000070618 |
| Gene Name |
PRAME like 20 |
| Synonyms |
BC080695 |
| MMRRC Submission |
041734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143294045-143300368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143297732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 51
(I51V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105765]
[ENSMUST00000105774]
|
| AlphaFold |
Q66JY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105765
AA Change: I51V
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101391
Gene: ENSMUSG00000070618
AA Change: I51V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105774
AA Change: I51V
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101400
Gene: ENSMUSG00000070618
AA Change: I51V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,186,383 (GRCm39) |
S549P |
probably damaging |
Het |
| Agfg1 |
T |
C |
1: 82,853,061 (GRCm39) |
S75P |
probably damaging |
Het |
| AK157302 |
T |
A |
13: 21,679,861 (GRCm39) |
V129E |
possibly damaging |
Het |
| Angpt1 |
A |
G |
15: 42,331,560 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,531,448 (GRCm39) |
I230N |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,789 (GRCm39) |
N77S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,607,200 (GRCm39) |
V1235M |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dbn1 |
CCCGCTCCCGGTAGCGCCGCTC |
CCCGCTC |
13: 55,629,374 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,274,744 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Gm7138 |
A |
T |
10: 77,612,246 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,422,781 (GRCm39) |
A890T |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,625 (GRCm39) |
T426A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Lrrc71 |
G |
C |
3: 87,649,972 (GRCm39) |
R319G |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mmp19 |
A |
T |
10: 128,631,506 (GRCm39) |
T129S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,784,582 (GRCm39) |
D1458G |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,487,487 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pdlim5 |
C |
T |
3: 141,964,978 (GRCm39) |
S417N |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,134,153 (GRCm39) |
S478P |
probably damaging |
Het |
| Plekhn1 |
G |
A |
4: 156,307,856 (GRCm39) |
R357W |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,842 (GRCm39) |
T772A |
unknown |
Het |
| Rasgef1a |
A |
T |
6: 118,062,436 (GRCm39) |
H232L |
possibly damaging |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,024,428 (GRCm39) |
N107S |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,215,036 (GRCm39) |
S202P |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
G |
A |
2: 114,027,365 (GRCm39) |
L235F |
probably damaging |
Het |
|
| Other mutations in Pramel20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02118:Pramel20
|
APN |
4 |
143,297,726 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02533:Pramel20
|
APN |
4 |
143,297,572 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0352:Pramel20
|
UTSW |
4 |
143,297,878 (GRCm39) |
splice site |
probably benign |
|
|
R1600:Pramel20
|
UTSW |
4 |
143,298,537 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3121:Pramel20
|
UTSW |
4 |
143,297,583 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4005:Pramel20
|
UTSW |
4 |
143,298,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4639:Pramel20
|
UTSW |
4 |
143,298,467 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4791:Pramel20
|
UTSW |
4 |
143,297,559 (GRCm39) |
start gained |
probably benign |
|
|
R5118:Pramel20
|
UTSW |
4 |
143,297,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Pramel20
|
UTSW |
4 |
143,297,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5861:Pramel20
|
UTSW |
4 |
143,297,810 (GRCm39) |
missense |
probably benign |
|
|
R6163:Pramel20
|
UTSW |
4 |
143,298,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Pramel20
|
UTSW |
4 |
143,297,796 (GRCm39) |
missense |
probably benign |
|
|
R6958:Pramel20
|
UTSW |
4 |
143,297,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Pramel20
|
UTSW |
4 |
143,298,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Pramel20
|
UTSW |
4 |
143,298,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8189:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8190:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8192:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8219:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8221:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8223:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8226:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R9005:Pramel20
|
UTSW |
4 |
143,298,425 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9150:Pramel20
|
UTSW |
4 |
143,298,531 (GRCm39) |
missense |
probably benign |
|
|
R9295:Pramel20
|
UTSW |
4 |
143,298,704 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9307:Pramel20
|
UTSW |
4 |
143,299,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Pramel20
|
UTSW |
4 |
143,299,328 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Pramel20
|
UTSW |
4 |
143,298,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGGATGCTTCAACAGGTC -3'
(R):5'- TGAGCCCAGATGTCCTTCTC -3'
Sequencing Primer
(F):5'- TGGATGCTTCAACAGGTCTATTC -3'
(R):5'- GAGCCCAGATGTCCTTCTCCTTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation