Incidental Mutation 'R0025:Enpp6'
ID |
18688 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp6
|
Ensembl Gene |
ENSMUSG00000038173 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 6 |
Synonyms |
B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6 |
MMRRC Submission |
038320-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0025 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
47439922-47549797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47519035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 268
(K268E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039840]
[ENSMUST00000119686]
[ENSMUST00000123066]
|
AlphaFold |
Q8BGN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039840
AA Change: K268E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044608 Gene: ENSMUSG00000038173 AA Change: K268E
Domain | Start | End | E-Value | Type |
Pfam:Phosphodiest
|
26 |
357 |
1.3e-79 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119686
AA Change: K268E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112633 Gene: ENSMUSG00000038173 AA Change: K268E
Domain | Start | End | E-Value | Type |
Pfam:Phosphodiest
|
26 |
357 |
1.1e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149593
|
SMART Domains |
Protein: ENSMUSP00000121470 Gene: ENSMUSG00000038173
Domain | Start | End | E-Value | Type |
PDB:4LR2|A
|
2 |
74 |
2e-10 |
PDB |
|
Meta Mutation Damage Score |
0.2116 |
Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
Validation Efficiency |
95% (69/73) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
Ate1 |
A |
G |
7: 130,105,523 (GRCm39) |
S332P |
probably damaging |
Het |
Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
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 |
IGL02882:Enpp6
|
APN |
8 |
47,483,567 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-03-25 |