Incidental Mutation 'IGL02882:Enpp6'
| ID |
362836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Enpp6
|
| Ensembl Gene |
ENSMUSG00000038173 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 6 |
| Synonyms |
B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL02882
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47439922-47549797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47483567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 120
(S120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039840]
[ENSMUST00000119686]
[ENSMUST00000123066]
|
| AlphaFold |
Q8BGN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039840
AA Change: S120P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: S120P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphodiest
|
26 |
357 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119686
AA Change: S120P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: S120P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphodiest
|
26 |
357 |
1.1e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123066
AA Change: S120P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140149
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
| Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
| Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
| Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
| Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
| Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
| Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
| Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
Het |
|
| Other mutations in Enpp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02215:Enpp6
|
APN |
8 |
47,518,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Enpp6
|
UTSW |
8 |
47,519,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Enpp6
|
UTSW |
8 |
47,519,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0331:Enpp6
|
UTSW |
8 |
47,535,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Enpp6
|
UTSW |
8 |
47,535,478 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1168:Enpp6
|
UTSW |
8 |
47,483,489 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1295:Enpp6
|
UTSW |
8 |
47,518,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1533:Enpp6
|
UTSW |
8 |
47,518,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1923:Enpp6
|
UTSW |
8 |
47,535,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2031:Enpp6
|
UTSW |
8 |
47,506,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2090:Enpp6
|
UTSW |
8 |
47,518,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2656:Enpp6
|
UTSW |
8 |
47,535,453 (GRCm39) |
nonsense |
probably null |
|
|
R3620:Enpp6
|
UTSW |
8 |
47,518,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3621:Enpp6
|
UTSW |
8 |
47,518,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3862:Enpp6
|
UTSW |
8 |
47,519,027 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4284:Enpp6
|
UTSW |
8 |
47,522,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Enpp6
|
UTSW |
8 |
47,546,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4899:Enpp6
|
UTSW |
8 |
47,440,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Enpp6
|
UTSW |
8 |
47,518,496 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5201:Enpp6
|
UTSW |
8 |
47,518,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5322:Enpp6
|
UTSW |
8 |
47,521,950 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5933:Enpp6
|
UTSW |
8 |
47,519,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8783:Enpp6
|
UTSW |
8 |
47,440,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9372:Enpp6
|
UTSW |
8 |
47,506,627 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9447:Enpp6
|
UTSW |
8 |
47,483,600 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9710:Enpp6
|
UTSW |
8 |
47,518,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation