Incidental Mutation 'R5836:Pramel11'
| ID |
449580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel11
|
| Ensembl Gene |
ENSMUSG00000078512 |
| Gene Name |
PRAME like 11 |
| Synonyms |
Gm13099, Pramef6 |
| MMRRC Submission |
043222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5836 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143623490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
| AlphaFold |
A2A8M8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081645
AA Change: V228A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: V228A
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
T |
17: 36,272,918 (GRCm39) |
A243D |
possibly damaging |
Het |
| Azin2 |
C |
T |
4: 128,842,670 (GRCm39) |
G128D |
probably damaging |
Het |
| Babam1 |
A |
G |
8: 71,855,687 (GRCm39) |
E260G |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,865,958 (GRCm39) |
S275T |
probably damaging |
Het |
| Cd8a |
T |
C |
6: 71,350,775 (GRCm39) |
V80A |
possibly damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,929,861 (GRCm39) |
F12S |
possibly damaging |
Het |
| Dennd2b |
A |
T |
7: 109,140,552 (GRCm39) |
S225T |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,383,738 (GRCm39) |
N2987H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,918,763 (GRCm39) |
F78S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,918,659 (GRCm39) |
T885A |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,662,817 (GRCm39) |
V145A |
probably benign |
Het |
| Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,229,882 (GRCm39) |
S758G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,617 (GRCm39) |
L538Q |
probably damaging |
Het |
| Ikzf2 |
A |
G |
1: 69,578,546 (GRCm39) |
I176T |
probably damaging |
Het |
| Lrp3 |
A |
G |
7: 34,902,747 (GRCm39) |
V533A |
probably damaging |
Het |
| Nkx2-5 |
A |
T |
17: 27,058,063 (GRCm39) |
V297E |
possibly damaging |
Het |
| Or13a19 |
G |
A |
7: 139,902,827 (GRCm39) |
V72I |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,335,353 (GRCm39) |
L225P |
probably damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,918 (GRCm39) |
T15A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,324,435 (GRCm39) |
W97R |
possibly damaging |
Het |
| Plekha5 |
T |
C |
6: 140,372,250 (GRCm39) |
Y67H |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,422,549 (GRCm39) |
|
probably null |
Het |
| Prickle1 |
T |
A |
15: 93,400,898 (GRCm39) |
K529* |
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,519,746 (GRCm39) |
T107I |
probably damaging |
Het |
| Ptpn12 |
C |
T |
5: 21,214,544 (GRCm39) |
W197* |
probably null |
Het |
| Rhobtb1 |
T |
C |
10: 69,105,819 (GRCm39) |
V128A |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,618,618 (GRCm39) |
T3866A |
probably damaging |
Het |
| Serpina3m |
T |
C |
12: 104,355,509 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,172,343 (GRCm39) |
V414A |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,561,278 (GRCm39) |
M581T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,515,040 (GRCm39) |
Y596C |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,123 (GRCm39) |
L278P |
probably benign |
Het |
| Tecpr2 |
C |
T |
12: 110,897,945 (GRCm39) |
A399V |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,016 (GRCm39) |
E246G |
probably damaging |
Het |
| Vmn1r224 |
A |
T |
17: 20,639,953 (GRCm39) |
I177L |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,842,000 (GRCm39) |
T860I |
probably benign |
Het |
|
| Other mutations in Pramel11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Pramel11
|
APN |
4 |
143,622,201 (GRCm39) |
missense |
probably benign |
|
|
IGL01917:Pramel11
|
APN |
4 |
143,624,284 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02222:Pramel11
|
APN |
4 |
143,622,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02315:Pramel11
|
APN |
4 |
143,624,498 (GRCm39) |
start gained |
probably benign |
|
|
R0488:Pramel11
|
UTSW |
4 |
143,621,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Pramel11
|
UTSW |
4 |
143,624,299 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0972:Pramel11
|
UTSW |
4 |
143,623,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1444:Pramel11
|
UTSW |
4 |
143,623,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1551:Pramel11
|
UTSW |
4 |
143,622,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Pramel11
|
UTSW |
4 |
143,622,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2068:Pramel11
|
UTSW |
4 |
143,623,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Pramel11
|
UTSW |
4 |
143,623,760 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2246:Pramel11
|
UTSW |
4 |
143,623,790 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4483:Pramel11
|
UTSW |
4 |
143,622,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Pramel11
|
UTSW |
4 |
143,623,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Pramel11
|
UTSW |
4 |
143,622,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Pramel11
|
UTSW |
4 |
143,622,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5683:Pramel11
|
UTSW |
4 |
143,622,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5838:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5853:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6340:Pramel11
|
UTSW |
4 |
143,623,877 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6572:Pramel11
|
UTSW |
4 |
143,621,943 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6791:Pramel11
|
UTSW |
4 |
143,622,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6972:Pramel11
|
UTSW |
4 |
143,623,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Pramel11
|
UTSW |
4 |
143,621,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7307:Pramel11
|
UTSW |
4 |
143,623,345 (GRCm39) |
nonsense |
probably null |
|
|
R7342:Pramel11
|
UTSW |
4 |
143,623,520 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7361:Pramel11
|
UTSW |
4 |
143,622,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7480:Pramel11
|
UTSW |
4 |
143,622,065 (GRCm39) |
missense |
probably benign |
|
|
R7685:Pramel11
|
UTSW |
4 |
143,624,371 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7861:Pramel11
|
UTSW |
4 |
143,624,288 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8699:Pramel11
|
UTSW |
4 |
143,623,762 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8981:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9100:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9101:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9103:Pramel11
|
UTSW |
4 |
143,624,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Pramel11
|
UTSW |
4 |
143,623,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9198:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9202:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9203:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9473:Pramel11
|
UTSW |
4 |
143,620,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9646:Pramel11
|
UTSW |
4 |
143,623,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pramel11
|
UTSW |
4 |
143,622,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pramel11
|
UTSW |
4 |
143,623,769 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACCCTTGGATAAAGCTCTC -3'
(R):5'- ATTTGTATCGGTGGGCCAAG -3'
Sequencing Primer
(F):5'- ACCTGAGCATTTGGTCCAG -3'
(R):5'- TATCGGTGGGCCAAGGAGAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation