Incidental Mutation 'IGL01679:Entpd8'
| ID |
103728 |
| 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 # |
IGL01679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24970316-24975728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24974378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 388
(K388E)
|
| 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 benign
Transcript: ENSMUST00000044078
AA Change: K388E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: K388E
| 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 benign
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 benign
Transcript: ENSMUST00000114380
AA Change: K388E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: K388E
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,071 (GRCm39) |
M2606K |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,470,035 (GRCm39) |
I1100V |
probably benign |
Het |
| Atp2a1 |
T |
C |
7: 126,055,981 (GRCm39) |
N280S |
probably benign |
Het |
| Car8 |
G |
A |
4: 8,169,674 (GRCm39) |
T278I |
possibly damaging |
Het |
| Catsperb |
G |
A |
12: 101,557,841 (GRCm39) |
|
probably null |
Het |
| Cfap47 |
A |
G |
X: 78,376,439 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,047,307 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,201,828 (GRCm39) |
E3378G |
probably damaging |
Het |
| Ctsq |
C |
T |
13: 61,186,722 (GRCm39) |
G94D |
probably benign |
Het |
| Gab1 |
C |
T |
8: 81,518,178 (GRCm39) |
A145T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,233,038 (GRCm39) |
|
probably null |
Het |
| Gm6685 |
T |
C |
11: 28,289,586 (GRCm39) |
T77A |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,268,262 (GRCm39) |
K387R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,006 (GRCm39) |
V143A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,114,752 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,351,942 (GRCm39) |
T201A |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,049,901 (GRCm39) |
S650P |
probably damaging |
Het |
| Rplp2 |
T |
G |
7: 141,028,679 (GRCm39) |
I55S |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,031,919 (GRCm39) |
D998G |
probably benign |
Het |
| Slc13a2 |
C |
A |
11: 78,295,537 (GRCm39) |
A110S |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,595,835 (GRCm39) |
Y94* |
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,042,598 (GRCm39) |
R889G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,936 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,180,637 (GRCm39) |
E165G |
probably 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 |
|
IGL02540:Entpd8
|
APN |
2 |
24,974,731 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation