Incidental Mutation 'R5082:Entpd1'
| ID |
387222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd1
|
| Ensembl Gene |
ENSMUSG00000048120 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 1 |
| Synonyms |
2610206B08Rik, ectoapyrase, NTPDase-1, Cd39 |
| MMRRC Submission |
042671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40600810-40730046 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40713473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112231]
[ENSMUST00000127828]
[ENSMUST00000127828]
[ENSMUST00000134063]
[ENSMUST00000156598]
|
| AlphaFold |
P55772 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112231
AA Change: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: E173G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
40 |
471 |
7.8e-160 |
PFAM |
|
transmembrane domain
|
477 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127268
|
| SMART Domains |
Protein: ENSMUSP00000116895
Gene: ENSMUSG00000048120
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
1 |
217 |
4.6e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127828
|
| SMART Domains |
Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
1 |
63 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127828
|
| SMART Domains |
Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
1 |
63 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134063
AA Change: E202G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: E202G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
69 |
500 |
6.9e-170 |
PFAM |
|
transmembrane domain
|
506 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156598
AA Change: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: E173G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
40 |
281 |
6.1e-101 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| 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 a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
| Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,424 (GRCm39) |
S515G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
| Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
| Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
| Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
| Irak2 |
T |
C |
6: 113,649,805 (GRCm39) |
F147L |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,868 (GRCm39) |
W115R |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,049 (GRCm39) |
D113E |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
| Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
| Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
| Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,076,745 (GRCm39) |
E270K |
possibly damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
| Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
| Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
probably damaging |
Het |
|
| Other mutations in Entpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Entpd1
|
APN |
19 |
40,699,714 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02624:Entpd1
|
APN |
19 |
40,714,502 (GRCm39) |
nonsense |
probably null |
|
|
IGL02893:Entpd1
|
APN |
19 |
40,715,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0413:Entpd1
|
UTSW |
19 |
40,699,729 (GRCm39) |
missense |
probably benign |
|
|
R0626:Entpd1
|
UTSW |
19 |
40,715,769 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0666:Entpd1
|
UTSW |
19 |
40,648,350 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Entpd1
|
UTSW |
19 |
40,714,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Entpd1
|
UTSW |
19 |
40,713,507 (GRCm39) |
nonsense |
probably null |
|
|
R1710:Entpd1
|
UTSW |
19 |
40,714,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Entpd1
|
UTSW |
19 |
40,727,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1759:Entpd1
|
UTSW |
19 |
40,600,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2143:Entpd1
|
UTSW |
19 |
40,725,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Entpd1
|
UTSW |
19 |
40,725,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Entpd1
|
UTSW |
19 |
40,727,965 (GRCm39) |
unclassified |
probably benign |
|
|
R5764:Entpd1
|
UTSW |
19 |
40,727,417 (GRCm39) |
splice site |
probably null |
|
|
R5906:Entpd1
|
UTSW |
19 |
40,727,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Entpd1
|
UTSW |
19 |
40,708,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Entpd1
|
UTSW |
19 |
40,713,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7408:Entpd1
|
UTSW |
19 |
40,727,309 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7814:Entpd1
|
UTSW |
19 |
40,715,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Entpd1
|
UTSW |
19 |
40,600,865 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R8438:Entpd1
|
UTSW |
19 |
40,725,224 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8951:Entpd1
|
UTSW |
19 |
40,727,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9126:Entpd1
|
UTSW |
19 |
40,714,608 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9798:Entpd1
|
UTSW |
19 |
40,715,789 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
W0251:Entpd1
|
UTSW |
19 |
40,714,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Entpd1
|
UTSW |
19 |
40,727,408 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCTCTGACTGAAATGGG -3'
(R):5'- CCCTGAGATGAAGACATGGC -3'
Sequencing Primer
(F):5'- CTCTGACTGAAATGGGTAGATGTAAC -3'
(R):5'- GGTAAATATTCCTCTAGCGATGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation