Incidental Mutation 'IGL01459:Entpd3'
ID |
87924 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Entpd3
|
Ensembl Gene |
ENSMUSG00000041608 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 3 |
Synonyms |
Cd39l3, NTPDase-3, HB6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL01459
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
120368884-120397393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120391007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 420
(S420P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047687]
|
AlphaFold |
Q8BFW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047687
AA Change: S420P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036830 Gene: ENSMUSG00000041608 AA Change: S420P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
49 |
483 |
4.3e-102 |
PFAM |
transmembrane domain
|
486 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143579
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit no deficits in nucleotide hydrolysis or alterations in nociceptive behaviors except for a modest reduction in beta-alanine-mediated itch behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
Other mutations in Entpd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
G1citation:Entpd3
|
UTSW |
9 |
120,391,104 (GRCm39) |
critical splice donor site |
probably null |
|
R0054:Entpd3
|
UTSW |
9 |
120,386,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R0265:Entpd3
|
UTSW |
9 |
120,387,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R0417:Entpd3
|
UTSW |
9 |
120,386,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R0607:Entpd3
|
UTSW |
9 |
120,386,471 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1028:Entpd3
|
UTSW |
9 |
120,387,427 (GRCm39) |
missense |
probably benign |
0.06 |
R1449:Entpd3
|
UTSW |
9 |
120,395,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Entpd3
|
UTSW |
9 |
120,383,225 (GRCm39) |
missense |
probably benign |
0.03 |
R1846:Entpd3
|
UTSW |
9 |
120,387,441 (GRCm39) |
missense |
probably benign |
0.33 |
R1848:Entpd3
|
UTSW |
9 |
120,387,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Entpd3
|
UTSW |
9 |
120,384,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Entpd3
|
UTSW |
9 |
120,391,068 (GRCm39) |
missense |
probably benign |
0.00 |
R5101:Entpd3
|
UTSW |
9 |
120,395,608 (GRCm39) |
makesense |
probably null |
|
R5109:Entpd3
|
UTSW |
9 |
120,395,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6822:Entpd3
|
UTSW |
9 |
120,391,104 (GRCm39) |
critical splice donor site |
probably null |
|
R6968:Entpd3
|
UTSW |
9 |
120,389,722 (GRCm39) |
missense |
probably benign |
0.01 |
R7107:Entpd3
|
UTSW |
9 |
120,389,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R7132:Entpd3
|
UTSW |
9 |
120,390,086 (GRCm39) |
missense |
probably benign |
0.00 |
R7310:Entpd3
|
UTSW |
9 |
120,389,821 (GRCm39) |
critical splice donor site |
probably null |
|
R7776:Entpd3
|
UTSW |
9 |
120,387,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Entpd3
|
UTSW |
9 |
120,373,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Entpd3
|
UTSW |
9 |
120,389,652 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8088:Entpd3
|
UTSW |
9 |
120,383,239 (GRCm39) |
missense |
probably benign |
0.08 |
R8121:Entpd3
|
UTSW |
9 |
120,384,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R9010:Entpd3
|
UTSW |
9 |
120,384,825 (GRCm39) |
missense |
probably benign |
0.01 |
R9553:Entpd3
|
UTSW |
9 |
120,387,546 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Entpd3
|
UTSW |
9 |
120,384,815 (GRCm39) |
missense |
probably benign |
0.41 |
X0024:Entpd3
|
UTSW |
9 |
120,390,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |