Incidental Mutation 'IGL01890:Entpd6'
| ID |
179237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Entpd6
|
| Ensembl Gene |
ENSMUSG00000033068 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 6 |
| Synonyms |
Cd39l2, NTPDase-6, 2700026H11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150590962-150613595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 150612612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 445
(D445N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094467]
|
| AlphaFold |
Q3U0P5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094467
AA Change: D445N
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092038
Gene: ENSMUSG00000033068
AA Change: D445N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
65 |
453 |
7.2e-74 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
T |
12: 80,231,642 (GRCm39) |
V265E |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,480,389 (GRCm39) |
I865V |
probably benign |
Het |
| Car5a |
G |
A |
8: 122,650,349 (GRCm39) |
A182V |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,096,277 (GRCm39) |
V249A |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,722 (GRCm39) |
V34A |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,676,149 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,771,320 (GRCm39) |
I225M |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,685,996 (GRCm39) |
V424A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,519,328 (GRCm39) |
M176V |
probably benign |
Het |
| Igkv12-38 |
C |
T |
6: 69,920,389 (GRCm39) |
C43Y |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,852 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 111,867,878 (GRCm39) |
G2R |
probably damaging |
Het |
| Slc4a9 |
G |
A |
18: 36,662,760 (GRCm39) |
A172T |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,146 (GRCm39) |
S727P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,862,237 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,689,083 (GRCm39) |
R4L |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,880 (GRCm39) |
V879E |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,776 (GRCm39) |
Y131F |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,737 (GRCm39) |
N491K |
probably damaging |
Het |
|
| Other mutations in Entpd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Entpd6
|
APN |
2 |
150,604,286 (GRCm39) |
splice site |
probably null |
|
|
IGL03208:Entpd6
|
APN |
2 |
150,610,838 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0057:Entpd6
|
UTSW |
2 |
150,600,748 (GRCm39) |
missense |
probably null |
0.90 |
|
R0403:Entpd6
|
UTSW |
2 |
150,602,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1035:Entpd6
|
UTSW |
2 |
150,606,112 (GRCm39) |
splice site |
probably benign |
|
|
R1485:Entpd6
|
UTSW |
2 |
150,610,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1532:Entpd6
|
UTSW |
2 |
150,600,670 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1921:Entpd6
|
UTSW |
2 |
150,600,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Entpd6
|
UTSW |
2 |
150,609,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Entpd6
|
UTSW |
2 |
150,605,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Entpd6
|
UTSW |
2 |
150,612,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Entpd6
|
UTSW |
2 |
150,605,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Entpd6
|
UTSW |
2 |
150,607,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7949:Entpd6
|
UTSW |
2 |
150,612,197 (GRCm39) |
splice site |
probably null |
|
|
R8955:Entpd6
|
UTSW |
2 |
150,595,005 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9291:Entpd6
|
UTSW |
2 |
150,608,959 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2014-05-07 |
Incidental Mutation