Incidental Mutation 'R1028:Entpd3'
| ID |
95054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd3
|
| Ensembl Gene |
ENSMUSG00000041608 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 3 |
| Synonyms |
Cd39l3, NTPDase-3, HB6 |
| MMRRC Submission |
039130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1028 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
120368884-120397393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120387427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 208
(H208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047687]
|
| AlphaFold |
Q8BFW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047687
AA Change: H208R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: H208R
| 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
|
| Meta Mutation Damage Score |
0.0741 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.8%
- 20x: 78.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
GCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTC |
8: 71,933,615 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Bpifb9a |
G |
C |
2: 154,104,327 (GRCm39) |
E257Q |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,314 (GRCm39) |
I59M |
probably benign |
Het |
| Cmah |
A |
G |
13: 24,619,645 (GRCm39) |
D171G |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,866,837 (GRCm39) |
S683P |
unknown |
Het |
| Dixdc1 |
C |
T |
9: 50,614,546 (GRCm39) |
A168T |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,871,425 (GRCm39) |
D461G |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,350 (GRCm39) |
I39T |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,594 (GRCm39) |
N238D |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,310,343 (GRCm39) |
A403S |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Mtor |
G |
C |
4: 148,623,287 (GRCm39) |
G2046R |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,247,007 (GRCm39) |
S1243P |
possibly damaging |
Het |
| Net1 |
A |
T |
13: 3,934,375 (GRCm39) |
C441S |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,021,169 (GRCm39) |
F552S |
probably damaging |
Het |
| Or2y15 |
G |
A |
11: 49,351,047 (GRCm39) |
M180I |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,870 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or9i16 |
C |
A |
19: 13,865,159 (GRCm39) |
Q138H |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,755 (GRCm39) |
I88V |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,187,950 (GRCm39) |
Y3453H |
probably damaging |
Het |
| Rabgef1 |
T |
G |
5: 130,241,703 (GRCm39) |
L369* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,305,425 (GRCm39) |
|
probably null |
Het |
| Sec16b |
T |
C |
1: 157,388,487 (GRCm39) |
V618A |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,846,821 (GRCm39) |
R876G |
possibly damaging |
Het |
| Slc26a8 |
A |
G |
17: 28,891,772 (GRCm39) |
Y126H |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,275 (GRCm39) |
T150I |
probably benign |
Het |
|
| Other mutations in Entpd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Entpd3
|
APN |
9 |
120,391,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGGGAGCTACTAGCAGAGCAC -3'
(R):5'- AAACCCCAGGATTGCATGGGTC -3'
Sequencing Primer
(F):5'- ATCTCACAGATCATCCTATAGTCCC -3'
(R):5'- GCAGACACTCAGGGCAGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation