Incidental Mutation 'R4284:Enpp6'
| ID |
321997 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47439922-47549797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47522050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 328
(F328S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039840]
[ENSMUST00000119686]
[ENSMUST00000123066]
|
| AlphaFold |
Q8BGN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039840
AA Change: F328S
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: F328S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphodiest
|
26 |
357 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119686
AA Change: F328S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: F328S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphodiest
|
26 |
357 |
1.1e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123066
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149593
AA Change: F28S
|
| SMART Domains |
Protein: ENSMUSP00000121470
Gene: ENSMUSG00000038173
AA Change: F28S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LR2|A
|
2 |
74 |
2e-10 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATCTCTCATAGCCAGGTCTC -3'
(R):5'- TGCGTCTAAAGCTTGTGTTTACC -3'
Sequencing Primer
(F):5'- TCTGTGAGTTCAAGACCAGC -3'
(R):5'- GTGTTTACCTAGATATCTCTTCCAGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation