Incidental Mutation 'IGL03032:Pramel14'
| ID |
408478 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel14
|
| Ensembl Gene |
ENSMUSG00000078509 |
| Gene Name |
PRAME like 14 |
| Synonyms |
Gm13107, Pramef17 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL03032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143717697-143720939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143719815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 183
(L183F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105762]
|
| AlphaFold |
A2ASJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105762
AA Change: L183F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509
AA Change: L183F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
205 |
408 |
5e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
| Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
| Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
| Drc7 |
C |
T |
8: 95,802,875 (GRCm39) |
|
probably benign |
Het |
| Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
| Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
| Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
| Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
| Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
| Mmp8 |
T |
A |
9: 7,558,530 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
| Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
| Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,064,520 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,152,529 (GRCm39) |
R12G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
| Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,357 (GRCm39) |
V570A |
probably benign |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
Het |
|
| Other mutations in Pramel14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Pramel14
|
APN |
4 |
143,719,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01981:Pramel14
|
APN |
4 |
143,720,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Pramel14
|
APN |
4 |
143,718,591 (GRCm39) |
splice site |
probably benign |
|
|
IGL02514:Pramel14
|
APN |
4 |
143,719,772 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02806:Pramel14
|
APN |
4 |
143,719,501 (GRCm39) |
splice site |
probably null |
|
|
IGL02888:Pramel14
|
APN |
4 |
143,720,669 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0269:Pramel14
|
UTSW |
4 |
143,720,088 (GRCm39) |
splice site |
probably benign |
|
|
R0363:Pramel14
|
UTSW |
4 |
143,718,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0617:Pramel14
|
UTSW |
4 |
143,720,088 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Pramel14
|
UTSW |
4 |
143,719,851 (GRCm39) |
missense |
probably benign |
|
|
R1475:Pramel14
|
UTSW |
4 |
143,720,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1724:Pramel14
|
UTSW |
4 |
143,720,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2158:Pramel14
|
UTSW |
4 |
143,720,885 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2210:Pramel14
|
UTSW |
4 |
143,720,789 (GRCm39) |
missense |
probably benign |
|
|
R3834:Pramel14
|
UTSW |
4 |
143,720,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4438:Pramel14
|
UTSW |
4 |
143,718,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Pramel14
|
UTSW |
4 |
143,720,830 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5832:Pramel14
|
UTSW |
4 |
143,718,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6809:Pramel14
|
UTSW |
4 |
143,719,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6986:Pramel14
|
UTSW |
4 |
143,719,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7072:Pramel14
|
UTSW |
4 |
143,720,698 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7144:Pramel14
|
UTSW |
4 |
143,718,103 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7268:Pramel14
|
UTSW |
4 |
143,720,090 (GRCm39) |
splice site |
probably null |
|
|
R7737:Pramel14
|
UTSW |
4 |
143,718,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8048:Pramel14
|
UTSW |
4 |
143,718,177 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8074:Pramel14
|
UTSW |
4 |
143,718,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8342:Pramel14
|
UTSW |
4 |
143,720,809 (GRCm39) |
missense |
probably benign |
|
|
R8855:Pramel14
|
UTSW |
4 |
143,720,905 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9105:Pramel14
|
UTSW |
4 |
143,718,595 (GRCm39) |
splice site |
probably benign |
|
|
R9490:Pramel14
|
UTSW |
4 |
143,719,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9633:Pramel14
|
UTSW |
4 |
143,720,818 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9671:Pramel14
|
UTSW |
4 |
143,719,687 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9685:Pramel14
|
UTSW |
4 |
143,719,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation