Incidental Mutation 'IGL03332:Entpd5'
ID |
416908 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Entpd5
|
Ensembl Gene |
ENSMUSG00000021236 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 5 |
Synonyms |
Pcph, NTPDase-5, mNTPase, ER-UDPase, NTPDase5, Cd39l4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03332
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84420649-84455803 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 84429002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000117286]
[ENSMUST00000120942]
[ENSMUST00000122194]
|
AlphaFold |
Q9WUZ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021662
|
SMART Domains |
Protein: ENSMUSP00000021662 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000072061
|
SMART Domains |
Protein: ENSMUSP00000071939 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
transmembrane domain
|
27 |
46 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
65 |
451 |
1.9e-77 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110272
|
SMART Domains |
Protein: ENSMUSP00000105901 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117286
|
SMART Domains |
Protein: ENSMUSP00000114011 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120942
|
SMART Domains |
Protein: ENSMUSP00000112516 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122194
|
SMART Domains |
Protein: ENSMUSP00000113106 Gene: ENSMUSG00000021236
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135061
|
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 similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009] PHENOTYPE: Mice homozygous for a null allele develop progressive hepatopathy, hepatocellular tumors, and spermatogenic arrest. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
C |
A |
5: 103,988,971 (GRCm39) |
S846* |
probably null |
Het |
Cnga2 |
A |
G |
X: 71,049,800 (GRCm39) |
Y155C |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 96,025,474 (GRCm39) |
|
probably benign |
Het |
Ece1 |
T |
C |
4: 137,673,666 (GRCm39) |
Y405H |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,419,277 (GRCm39) |
Y481* |
probably null |
Het |
Mia2 |
T |
A |
12: 59,155,184 (GRCm39) |
I300N |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,801,418 (GRCm39) |
E1192G |
possibly damaging |
Het |
Nol6 |
C |
A |
4: 41,120,735 (GRCm39) |
D405Y |
probably damaging |
Het |
Rpl4 |
T |
C |
9: 64,083,370 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
G |
T |
13: 38,114,892 (GRCm39) |
E750D |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,578,879 (GRCm39) |
M265V |
possibly damaging |
Het |
Tnik |
C |
T |
3: 28,720,304 (GRCm39) |
T1254I |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,542,790 (GRCm39) |
G348D |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,384,486 (GRCm39) |
T527A |
possibly damaging |
Het |
Zbtb21 |
T |
C |
16: 97,753,533 (GRCm39) |
E250G |
possibly damaging |
Het |
Zbtb8b |
G |
A |
4: 129,322,361 (GRCm39) |
P367S |
probably damaging |
Het |
|
Other mutations in Entpd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Entpd5
|
APN |
12 |
84,433,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01455:Entpd5
|
APN |
12 |
84,441,451 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02168:Entpd5
|
APN |
12 |
84,433,752 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02183:Entpd5
|
APN |
12 |
84,427,154 (GRCm39) |
splice site |
probably benign |
|
IGL03104:Entpd5
|
APN |
12 |
84,431,022 (GRCm39) |
missense |
probably damaging |
0.97 |
aventi
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
eatsy
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
magenschonend
|
UTSW |
12 |
84,441,464 (GRCm39) |
missense |
probably benign |
0.00 |
R0024:Entpd5
|
UTSW |
12 |
84,420,507 (GRCm39) |
missense |
probably benign |
0.01 |
R0103:Entpd5
|
UTSW |
12 |
84,443,717 (GRCm39) |
nonsense |
probably null |
|
R0103:Entpd5
|
UTSW |
12 |
84,443,717 (GRCm39) |
nonsense |
probably null |
|
R0644:Entpd5
|
UTSW |
12 |
84,432,915 (GRCm39) |
missense |
probably benign |
0.00 |
R1533:Entpd5
|
UTSW |
12 |
84,441,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Entpd5
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
R1740:Entpd5
|
UTSW |
12 |
84,443,545 (GRCm39) |
missense |
probably benign |
0.01 |
R1768:Entpd5
|
UTSW |
12 |
84,432,985 (GRCm39) |
missense |
probably benign |
|
R2049:Entpd5
|
UTSW |
12 |
84,443,632 (GRCm39) |
missense |
probably benign |
0.00 |
R5128:Entpd5
|
UTSW |
12 |
84,441,464 (GRCm39) |
missense |
probably benign |
0.00 |
R6562:Entpd5
|
UTSW |
12 |
84,432,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6907:Entpd5
|
UTSW |
12 |
84,424,127 (GRCm39) |
missense |
probably benign |
0.23 |
R7209:Entpd5
|
UTSW |
12 |
84,443,702 (GRCm39) |
missense |
probably benign |
|
R7605:Entpd5
|
UTSW |
12 |
84,443,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R8700:Entpd5
|
UTSW |
12 |
84,443,508 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Entpd5
|
UTSW |
12 |
84,430,994 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2016-08-02 |