Incidental Mutation 'R5291:Pramel11'
ID |
405140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel11
|
Ensembl Gene |
ENSMUSG00000078512 |
Gene Name |
PRAME like 11 |
Synonyms |
Gm13099, Pramef6 |
MMRRC Submission |
042874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5291 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 143622237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 373
(P373T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
AlphaFold |
A2A8M8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081645
AA Change: P373T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080350 Gene: ENSMUSG00000078512 AA Change: P373T
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105767
AA Change: P373T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101393 Gene: ENSMUSG00000078512 AA Change: P373T
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably damaging |
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 |
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 |
R5836:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
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'- ACAAAGTTGCACAAATCTGTCTGG -3'
(R):5'- TACTCACTGCACACTGTCAG -3'
Sequencing Primer
(F):5'- TCTGTCTGGAATAACACCATCACTG -3'
(R):5'- CTGCACACTGTCAGAATCAGATATG -3'
|
Posted On |
2016-07-22 |