Incidental Mutation 'IGL01329:Entpd8'
| ID |
74418 |
| 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 # |
IGL01329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24970316-24975728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24974358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 381
(K381R)
|
| 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: K381R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: K381R
| 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: K381R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: K381R
| 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: ENSMUST00000152326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149470
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,944,166 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,784,194 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,860,733 (GRCm39) |
Y195C |
probably damaging |
Het |
| Cand2 |
T |
C |
6: 115,759,755 (GRCm39) |
I142T |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,592,062 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,479,534 (GRCm39) |
G217D |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,917,385 (GRCm39) |
H25L |
unknown |
Het |
| Cfap95 |
A |
G |
19: 23,630,100 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,778,889 (GRCm39) |
V266A |
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,703,132 (GRCm39) |
D69G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,622,164 (GRCm39) |
I1518V |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,335,397 (GRCm39) |
K345I |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,967,281 (GRCm39) |
V352A |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,482 (GRCm39) |
|
probably null |
Het |
| Gm11992 |
A |
G |
11: 9,018,383 (GRCm39) |
*292W |
probably null |
Het |
| Ifnar2 |
T |
A |
16: 91,188,599 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,230,111 (GRCm39) |
K661R |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,578,290 (GRCm39) |
E651* |
probably null |
Het |
| Ints1 |
A |
G |
5: 139,753,258 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
C |
9: 106,447,832 (GRCm39) |
K26E |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,613 (GRCm39) |
V289A |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,205,215 (GRCm39) |
K319R |
possibly damaging |
Het |
| Nubpl |
T |
C |
12: 52,352,638 (GRCm39) |
V291A |
probably damaging |
Het |
| Or4f56 |
A |
G |
2: 111,703,295 (GRCm39) |
F302L |
probably benign |
Het |
| Or4k15c |
C |
T |
14: 50,321,454 (GRCm39) |
R228H |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,324 (GRCm39) |
S313P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,551 (GRCm39) |
N84D |
probably benign |
Het |
| Otof |
A |
G |
5: 30,598,723 (GRCm39) |
S29P |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,927,545 (GRCm39) |
D436G |
possibly damaging |
Het |
| Rasef |
T |
A |
4: 73,645,882 (GRCm39) |
T496S |
probably damaging |
Het |
| Saa2 |
A |
G |
7: 46,402,896 (GRCm39) |
D49G |
probably benign |
Het |
| Scart1 |
T |
A |
7: 139,804,552 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,547,852 (GRCm39) |
I1015V |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,907,119 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,002,865 (GRCm39) |
H1863R |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Svil |
A |
G |
18: 5,064,501 (GRCm39) |
E1111G |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,322 (GRCm39) |
V112A |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,776,273 (GRCm39) |
I276M |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,776 (GRCm39) |
I939N |
possibly damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,553,600 (GRCm39) |
M515V |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,442,330 (GRCm39) |
T82A |
possibly damaging |
Het |
|
| Other mutations in Entpd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01679:Entpd8
|
APN |
2 |
24,974,378 (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 |
2013-10-07 |
Incidental Mutation