Incidental Mutation 'IGL01870:Pramel19'
| ID |
178682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel19
|
| Ensembl Gene |
ENSMUSG00000070890 |
| Gene Name |
PRAME like 19 |
| Synonyms |
Gm12794 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101797604-101800380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101797887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 95
(L95H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052027]
|
| AlphaFold |
L7MTS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052027
AA Change: L95H
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: L95H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
257 |
409 |
9e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,310 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,438,604 (GRCm39) |
K300E |
probably damaging |
Het |
| Cma2 |
C |
A |
14: 56,211,194 (GRCm39) |
S162Y |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,466,676 (GRCm39) |
T193A |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,824,377 (GRCm39) |
M556L |
probably benign |
Het |
| Dld |
A |
G |
12: 31,385,466 (GRCm39) |
S292P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,009,552 (GRCm39) |
D3746E |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,809,848 (GRCm39) |
T9A |
probably damaging |
Het |
| Eeig1 |
T |
C |
2: 32,456,294 (GRCm39) |
S319P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,108 (GRCm39) |
K1714R |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,980,955 (GRCm39) |
M327K |
probably benign |
Het |
| Ifnz |
T |
A |
4: 88,701,548 (GRCm39) |
S176T |
possibly damaging |
Het |
| Irak4 |
T |
C |
15: 94,445,751 (GRCm39) |
Y10H |
probably benign |
Het |
| Irx5 |
T |
C |
8: 93,086,405 (GRCm39) |
F163L |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,133,434 (GRCm39) |
P376S |
probably damaging |
Het |
| Lrrc25 |
T |
C |
8: 71,070,437 (GRCm39) |
S73P |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,906 (GRCm39) |
G2285D |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,624 (GRCm39) |
T1025S |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,134 (GRCm39) |
N303S |
probably benign |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,022,667 (GRCm39) |
V1512A |
probably benign |
Het |
| Phlda3 |
A |
G |
1: 135,694,376 (GRCm39) |
S64G |
probably benign |
Het |
| Pptc7 |
C |
A |
5: 122,451,665 (GRCm39) |
S40R |
probably damaging |
Het |
| Ptpn4 |
A |
C |
1: 119,603,277 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,007,302 (GRCm39) |
M160V |
probably benign |
Het |
| Stac |
T |
C |
9: 111,401,400 (GRCm39) |
I349V |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,866 (GRCm39) |
S157P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,915 (GRCm39) |
L924P |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,601,411 (GRCm39) |
V883I |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Whamm |
C |
T |
7: 81,245,722 (GRCm39) |
T726I |
probably damaging |
Het |
|
| Other mutations in Pramel19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Pramel19
|
APN |
4 |
101,798,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01360:Pramel19
|
APN |
4 |
101,797,665 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01837:Pramel19
|
APN |
4 |
101,798,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Pramel19
|
APN |
4 |
101,798,331 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03264:Pramel19
|
APN |
4 |
101,798,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0033:Pramel19
|
UTSW |
4 |
101,798,881 (GRCm39) |
missense |
probably benign |
|
|
R0334:Pramel19
|
UTSW |
4 |
101,798,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0846:Pramel19
|
UTSW |
4 |
101,798,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Pramel19
|
UTSW |
4 |
101,798,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Pramel19
|
UTSW |
4 |
101,798,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1774:Pramel19
|
UTSW |
4 |
101,797,655 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1888:Pramel19
|
UTSW |
4 |
101,798,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:Pramel19
|
UTSW |
4 |
101,798,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4510:Pramel19
|
UTSW |
4 |
101,798,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Pramel19
|
UTSW |
4 |
101,798,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Pramel19
|
UTSW |
4 |
101,798,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4960:Pramel19
|
UTSW |
4 |
101,798,661 (GRCm39) |
missense |
probably benign |
|
|
R5043:Pramel19
|
UTSW |
4 |
101,797,721 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5297:Pramel19
|
UTSW |
4 |
101,798,348 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5780:Pramel19
|
UTSW |
4 |
101,798,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Pramel19
|
UTSW |
4 |
101,798,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6409:Pramel19
|
UTSW |
4 |
101,797,874 (GRCm39) |
nonsense |
probably null |
|
|
R6452:Pramel19
|
UTSW |
4 |
101,798,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7619:Pramel19
|
UTSW |
4 |
101,798,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8460:Pramel19
|
UTSW |
4 |
101,798,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9202:Pramel19
|
UTSW |
4 |
101,797,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pramel19
|
UTSW |
4 |
101,798,322 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation