Incidental Mutation 'IGL02540:Entpd8'
ID |
297691 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Entpd8
|
Ensembl Gene |
ENSMUSG00000036813 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 8 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02540
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
24970316-24975728 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 24974731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000044078]
[ENSMUST00000114373]
[ENSMUST00000114376]
[ENSMUST00000114380]
[ENSMUST00000150625]
|
AlphaFold |
Q8K0L2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044018
|
SMART Domains |
Protein: ENSMUSP00000037423 Gene: ENSMUSG00000036805
Domain | Start | End | E-Value | Type |
TPR
|
38 |
71 |
8.17e-1 |
SMART |
TPR
|
72 |
105 |
1.47e-2 |
SMART |
TPR
|
122 |
155 |
1.97e1 |
SMART |
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
PB1
|
285 |
365 |
6.76e-9 |
SMART |
SH3
|
372 |
427 |
1.81e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000044078
|
SMART Domains |
Protein: ENSMUSP00000040628 Gene: ENSMUSG00000036813
Domain | Start | End | E-Value | Type |
Pfam:GDA1_CD39
|
34 |
463 |
1.8e-106 |
PFAM |
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114373
|
SMART Domains |
Protein: ENSMUSP00000110014 Gene: ENSMUSG00000036805
Domain | Start | End | E-Value | Type |
TPR
|
38 |
71 |
8.17e-1 |
SMART |
TPR
|
72 |
105 |
1.47e-2 |
SMART |
TPR
|
122 |
155 |
1.97e1 |
SMART |
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
PB1
|
277 |
357 |
6.76e-9 |
SMART |
SH3
|
364 |
419 |
1.81e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114376
|
SMART Domains |
Protein: ENSMUSP00000110017 Gene: ENSMUSG00000036813
Domain | Start | End | E-Value | Type |
Pfam:GDA1_CD39
|
34 |
355 |
1.4e-77 |
PFAM |
Pfam:GDA1_CD39
|
347 |
423 |
2.1e-11 |
PFAM |
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114380
|
SMART Domains |
Protein: ENSMUSP00000110022 Gene: ENSMUSG00000036813
Domain | Start | End | E-Value | Type |
Pfam:GDA1_CD39
|
34 |
465 |
1.1e-100 |
PFAM |
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150625
|
SMART Domains |
Protein: ENSMUSP00000142316 Gene: ENSMUSG00000036813
Domain | Start | End | E-Value | Type |
Pfam:GDA1_CD39
|
1 |
41 |
8.4e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adipor2 |
C |
A |
6: 119,336,456 (GRCm39) |
R169L |
probably benign |
Het |
Arhgap1 |
C |
T |
2: 91,500,584 (GRCm39) |
T371I |
probably damaging |
Het |
Brpf3 |
C |
T |
17: 29,047,328 (GRCm39) |
P1031S |
probably damaging |
Het |
Cenpu |
A |
G |
8: 47,031,354 (GRCm39) |
H245R |
probably damaging |
Het |
Dhx36 |
A |
G |
3: 62,414,309 (GRCm39) |
S18P |
probably benign |
Het |
Dst |
A |
G |
1: 34,174,285 (GRCm39) |
T217A |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,805,534 (GRCm39) |
|
probably benign |
Het |
Fez1 |
A |
G |
9: 36,761,695 (GRCm39) |
R122G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,081,001 (GRCm39) |
M1417K |
probably damaging |
Het |
Higd1c |
T |
C |
15: 100,263,247 (GRCm39) |
|
probably benign |
Het |
Icosl |
G |
A |
10: 77,905,370 (GRCm39) |
|
probably null |
Het |
Il24 |
T |
C |
1: 130,815,040 (GRCm39) |
|
probably benign |
Het |
Kank3 |
T |
A |
17: 34,038,161 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,050,880 (GRCm39) |
L624P |
probably benign |
Het |
Mov10l1 |
C |
A |
15: 88,902,414 (GRCm39) |
T768K |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,386 (GRCm39) |
T161S |
possibly damaging |
Het |
Or5ak25 |
A |
G |
2: 85,269,259 (GRCm39) |
M81T |
probably benign |
Het |
Or5aq7 |
A |
T |
2: 86,938,386 (GRCm39) |
L115Q |
probably damaging |
Het |
Pkn2 |
A |
T |
3: 142,515,465 (GRCm39) |
F649I |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,083,309 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,550,706 (GRCm39) |
S86L |
probably damaging |
Het |
Rai1 |
G |
A |
11: 60,077,750 (GRCm39) |
A605T |
probably benign |
Het |
Reln |
T |
A |
5: 22,239,750 (GRCm39) |
Q839L |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,360,746 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,249,200 (GRCm39) |
C178S |
probably benign |
Het |
Vmn1r172 |
T |
A |
7: 23,359,350 (GRCm39) |
F78L |
probably benign |
Het |
Zfpm1 |
A |
G |
8: 123,058,859 (GRCm39) |
S160G |
possibly damaging |
Het |
|
Other mutations in Entpd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01329:Entpd8
|
APN |
2 |
24,974,358 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01679:Entpd8
|
APN |
2 |
24,974,378 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02803:Entpd8
|
APN |
2 |
24,975,151 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02876:Entpd8
|
APN |
2 |
24,975,072 (GRCm39) |
missense |
probably benign |
0.32 |
R0531:Entpd8
|
UTSW |
2 |
24,974,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1579:Entpd8
|
UTSW |
2 |
24,974,986 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1680:Entpd8
|
UTSW |
2 |
24,974,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Entpd8
|
UTSW |
2 |
24,974,318 (GRCm39) |
missense |
probably benign |
0.15 |
R2228:Entpd8
|
UTSW |
2 |
24,975,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R4979:Entpd8
|
UTSW |
2 |
24,972,967 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5076:Entpd8
|
UTSW |
2 |
24,975,066 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5276:Entpd8
|
UTSW |
2 |
24,975,057 (GRCm39) |
missense |
probably benign |
0.01 |
R5695:Entpd8
|
UTSW |
2 |
24,974,346 (GRCm39) |
missense |
probably benign |
0.16 |
R6994:Entpd8
|
UTSW |
2 |
24,973,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R7850:Entpd8
|
UTSW |
2 |
24,975,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R7977:Entpd8
|
UTSW |
2 |
24,974,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R7987:Entpd8
|
UTSW |
2 |
24,974,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R8544:Entpd8
|
UTSW |
2 |
24,973,856 (GRCm39) |
missense |
probably benign |
0.03 |
R8683:Entpd8
|
UTSW |
2 |
24,974,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Entpd8
|
UTSW |
2 |
24,971,858 (GRCm39) |
missense |
probably benign |
0.16 |
R8904:Entpd8
|
UTSW |
2 |
24,973,575 (GRCm39) |
intron |
probably benign |
|
R9022:Entpd8
|
UTSW |
2 |
24,975,144 (GRCm39) |
missense |
probably benign |
|
R9182:Entpd8
|
UTSW |
2 |
24,971,931 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |