Incidental Mutation 'IGL02879:Enpp4'
| ID |
362744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Enpp4
|
| Ensembl Gene |
ENSMUSG00000023961 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 4 |
| Synonyms |
LOC224794, 4933413N07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
IGL02879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
44407199-44416700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44412841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 231
(D231G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024757]
[ENSMUST00000143137]
|
| AlphaFold |
Q8BTJ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024757
AA Change: D231G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: D231G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
31 |
342 |
9e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143137
AA Change: D231G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: D231G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
31 |
342 |
5.7e-80 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,051,067 (GRCm39) |
R507H |
probably damaging |
Het |
| Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
| Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,456,341 (GRCm39) |
Y750H |
probably damaging |
Het |
| Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
| Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
| Nkapd1 |
C |
T |
9: 50,520,671 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
| Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
| Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
| Upk1b |
G |
A |
16: 38,596,640 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
possibly damaging |
Het |
|
| Other mutations in Enpp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Enpp4
|
APN |
17 |
44,410,494 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02150:Enpp4
|
APN |
17 |
44,413,049 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02451:Enpp4
|
APN |
17 |
44,412,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Enpp4
|
UTSW |
17 |
44,413,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0540:Enpp4
|
UTSW |
17 |
44,410,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Enpp4
|
UTSW |
17 |
44,410,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Enpp4
|
UTSW |
17 |
44,412,772 (GRCm39) |
nonsense |
probably null |
|
|
R1334:Enpp4
|
UTSW |
17 |
44,413,259 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1632:Enpp4
|
UTSW |
17 |
44,410,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2567:Enpp4
|
UTSW |
17 |
44,412,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4272:Enpp4
|
UTSW |
17 |
44,412,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4273:Enpp4
|
UTSW |
17 |
44,412,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4750:Enpp4
|
UTSW |
17 |
44,413,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Enpp4
|
UTSW |
17 |
44,413,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6296:Enpp4
|
UTSW |
17 |
44,413,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7180:Enpp4
|
UTSW |
17 |
44,412,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8036:Enpp4
|
UTSW |
17 |
44,413,136 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8135:Enpp4
|
UTSW |
17 |
44,412,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9168:Enpp4
|
UTSW |
17 |
44,413,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9209:Enpp4
|
UTSW |
17 |
44,412,252 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation