Incidental Mutation 'IGL00793:Enpp7'
| ID |
12601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Enpp7
|
| Ensembl Gene |
ENSMUSG00000046697 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
| Synonyms |
Alk-SMase, LOC238011 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
118879014-118884047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118881371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 172
(N172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092373]
[ENSMUST00000106273]
|
| AlphaFold |
Q3TIW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092373
AA Change: N172I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: N172I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
30 |
353 |
2.5e-76 |
PFAM |
|
Pfam:Metalloenzyme
|
43 |
272 |
8.7e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106273
AA Change: N172I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: N172I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
30 |
353 |
3e-77 |
PFAM |
|
Pfam:Metalloenzyme
|
41 |
257 |
5.2e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Enpp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02488:Enpp7
|
APN |
11 |
118,879,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Enpp7
|
APN |
11 |
118,883,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0465:Enpp7
|
UTSW |
11 |
118,879,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Enpp7
|
UTSW |
11 |
118,881,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Enpp7
|
UTSW |
11 |
118,879,588 (GRCm39) |
splice site |
probably benign |
|
|
R2970:Enpp7
|
UTSW |
11 |
118,881,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Enpp7
|
UTSW |
11 |
118,881,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Enpp7
|
UTSW |
11 |
118,881,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5222:Enpp7
|
UTSW |
11 |
118,881,788 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5454:Enpp7
|
UTSW |
11 |
118,879,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5577:Enpp7
|
UTSW |
11 |
118,882,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7361:Enpp7
|
UTSW |
11 |
118,882,985 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8855:Enpp7
|
UTSW |
11 |
118,879,191 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9048:Enpp7
|
UTSW |
11 |
118,881,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Enpp7
|
UTSW |
11 |
118,879,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation