Incidental Mutation 'IGL03208:Entpd6'
| ID |
413193 |
| 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 # |
IGL03208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150590962-150613595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150610838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 385
(Y385N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094467]
|
| AlphaFold |
Q3U0P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094467
AA Change: Y385N
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092038
Gene: ENSMUSG00000033068
AA Change: Y385N
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
T |
C |
4: 40,186,424 (GRCm39) |
V612A |
possibly damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,337 (GRCm39) |
T195S |
probably damaging |
Het |
| Cluh |
C |
A |
11: 74,560,332 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
C |
6: 102,164,060 (GRCm39) |
Y882C |
probably damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,813,833 (GRCm39) |
K645N |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,431,452 (GRCm39) |
Y484C |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,723,811 (GRCm39) |
A386T |
probably benign |
Het |
| Fam149b |
T |
C |
14: 20,401,370 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
G |
A |
1: 63,778,365 (GRCm39) |
E413K |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,376 (GRCm39) |
L405* |
probably null |
Het |
| Gpr75 |
A |
T |
11: 30,842,699 (GRCm39) |
I535F |
probably damaging |
Het |
| Irf2 |
A |
C |
8: 47,260,340 (GRCm39) |
I53L |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,046 (GRCm39) |
E28G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,853,974 (GRCm39) |
|
probably benign |
Het |
| Or10z1 |
A |
G |
1: 174,077,959 (GRCm39) |
F178S |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,326 (GRCm39) |
V196A |
probably benign |
Het |
| Plekhm1 |
T |
C |
11: 103,267,596 (GRCm39) |
K792E |
probably benign |
Het |
| Ppp1r14c |
A |
T |
10: 3,373,531 (GRCm39) |
D114V |
probably damaging |
Het |
| Rnf20 |
G |
T |
4: 49,645,706 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,628,171 (GRCm39) |
P934S |
possibly damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,383,053 (GRCm39) |
E243G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,396 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,500,716 (GRCm39) |
L147P |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,025 (GRCm39) |
S96R |
possibly damaging |
Het |
|
| Other mutations in Entpd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01890:Entpd6
|
APN |
2 |
150,612,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01980:Entpd6
|
APN |
2 |
150,604,286 (GRCm39) |
splice site |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation