Incidental Mutation 'IGL00421:Pramel51'
| ID |
5966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel51
|
| Ensembl Gene |
ENSMUSG00000066027 |
| Gene Name |
PRAME like 51 |
| Synonyms |
Gm10436 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88143882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 310
(D310E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
| AlphaFold |
L7N1Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071580
AA Change: D318E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: D318E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220521
AA Change: D123E
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
AA Change: D310E
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Pramel51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01784:Pramel51
|
APN |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3625:Pramel51
|
UTSW |
12 |
88,142,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Pramel51
|
UTSW |
12 |
88,142,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5601:Pramel51
|
UTSW |
12 |
88,142,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation