Incidental Mutation 'R2940:Pramel28'
| ID |
255123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel28
|
| Ensembl Gene |
ENSMUSG00000078510 |
| Gene Name |
PRAME like 28 |
| Synonyms |
Gm13101 |
| MMRRC Submission |
040517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2940 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143691088-143693520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143693247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 77
(V77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105763]
|
| AlphaFold |
A2ASJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105763
AA Change: V77A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: V77A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
2e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,878,424 (GRCm39) |
W405R |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,409,723 (GRCm39) |
R221H |
probably damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,954 (GRCm39) |
D1878G |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,978,735 (GRCm39) |
I573V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dmap1 |
G |
A |
4: 117,533,202 (GRCm39) |
T284M |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,762,115 (GRCm39) |
T487A |
probably benign |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,290,564 (GRCm39) |
S140T |
possibly damaging |
Het |
| Fibcd1 |
T |
C |
2: 31,707,276 (GRCm39) |
Y327C |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
| Igfbp1 |
A |
G |
11: 7,151,970 (GRCm39) |
T258A |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,444,835 (GRCm39) |
T65A |
possibly damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,239 (GRCm39) |
D185E |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,772,451 (GRCm39) |
R157C |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,714 (GRCm39) |
S1484G |
probably benign |
Het |
| Lman1 |
G |
T |
18: 66,117,344 (GRCm39) |
P466Q |
possibly damaging |
Het |
| Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nbea |
C |
G |
3: 55,842,045 (GRCm39) |
E1879Q |
probably benign |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,239 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Plek |
C |
T |
11: 16,942,887 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,767 (GRCm39) |
A692V |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Sh3rf2 |
G |
A |
18: 42,244,505 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,757 (GRCm39) |
D506G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
| Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,362,015 (GRCm39) |
D123G |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Tubb6 |
A |
G |
18: 67,534,994 (GRCm39) |
N298D |
probably damaging |
Het |
| Xpo7 |
G |
T |
14: 70,904,577 (GRCm39) |
L1020I |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,576 (GRCm39) |
L1020Q |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,950,377 (GRCm39) |
L611Q |
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 |
|
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 |
|
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'- CCAGGACAGTGTAGCTCTTCAAG -3'
(R):5'- ACTCCTGAGCTTGGCAGTACAG -3'
Sequencing Primer
(F):5'- CAGTGTAGCTCTTCAAGATGATACC -3'
(R):5'- CCTGGCGAAGAATGAAGCCTTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation