Incidental Mutation 'R1600:Pramel20'
| ID |
176086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel20
|
| Ensembl Gene |
ENSMUSG00000070618 |
| Gene Name |
PRAME like 20 |
| Synonyms |
BC080695 |
| MMRRC Submission |
039637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1600 (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 143298537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 160
(E160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105765]
[ENSMUST00000105774]
|
| AlphaFold |
Q66JY9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105765
AA Change: E160G
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101391
Gene: ENSMUSG00000070618
AA Change: E160G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105774
AA Change: E160G
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101400
Gene: ENSMUSG00000070618
AA Change: E160G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
85% (41/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
| Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,173,954 (GRCm39) |
R64G |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,119,866 (GRCm39) |
Y176H |
probably benign |
Het |
| Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,303,708 (GRCm39) |
|
probably null |
Het |
| Grk1 |
A |
G |
8: 13,455,406 (GRCm39) |
T97A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
| Mtnr1b |
T |
C |
9: 15,774,615 (GRCm39) |
Y148C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
| Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
| Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
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 |
|
|
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 |
|
R4477:Pramel20
|
UTSW |
4 |
143,297,732 (GRCm39) |
missense |
probably benign |
0.21 |
|
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'- TCAAGTGCTGGACCTGAGAAATGTG -3'
(R):5'- CCGGAGACTGTTGAGTTTGGAGAAC -3'
Sequencing Primer
(F):5'- CAGCAGAGACAGTGTGTCAA -3'
(R):5'- TTCTTCATCTGACCAAGGCAAGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation