Incidental Mutation 'IGL02876:Entpd8'
| ID |
406248 |
| 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 # |
IGL02876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24970316-24975728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24975072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 428
(S428R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110017
(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: S468R
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: S468R
| 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
AA Change: S428R
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: S428R
| 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: S468R
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: S468R
| 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 |
|---|
| Aadacl4fm2 |
A |
G |
4: 144,282,343 (GRCm39) |
Y150H |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,883,576 (GRCm39) |
V564A |
probably damaging |
Het |
| Adamts15 |
A |
T |
9: 30,815,818 (GRCm39) |
N679K |
probably damaging |
Het |
| Angpt1 |
T |
G |
15: 42,290,373 (GRCm39) |
D497A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,308,164 (GRCm39) |
K849R |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,391 (GRCm39) |
V1137A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,610,746 (GRCm39) |
I297V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,604,071 (GRCm39) |
V454A |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,338,651 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,128 (GRCm39) |
K517* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,469,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
T |
A |
15: 82,273,697 (GRCm39) |
Q427L |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,100 (GRCm39) |
V706M |
probably damaging |
Het |
| Gm10283 |
T |
C |
8: 60,954,253 (GRCm39) |
|
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,307,995 (GRCm39) |
V363E |
probably damaging |
Het |
| Hoxb5 |
T |
A |
11: 96,194,594 (GRCm39) |
M52K |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,878,627 (GRCm39) |
V307A |
probably benign |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,424 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm5a |
T |
C |
6: 120,367,605 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,057,687 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
G |
A |
6: 134,433,077 (GRCm39) |
P1418L |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,590,432 (GRCm39) |
F156L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,217,378 (GRCm39) |
R85G |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,261,740 (GRCm39) |
D451V |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,539 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Pdzph1 |
C |
A |
17: 59,281,064 (GRCm39) |
S406I |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,184,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,742 (GRCm39) |
R236S |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,722,679 (GRCm39) |
M2604V |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,377,673 (GRCm39) |
|
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,719 (GRCm39) |
H88L |
probably damaging |
Het |
| Spcs3 |
A |
T |
8: 54,979,486 (GRCm39) |
N98K |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,414 (GRCm39) |
S413P |
probably damaging |
Het |
| Stap2 |
T |
C |
17: 56,306,961 (GRCm39) |
R239G |
probably benign |
Het |
| Surf6 |
A |
G |
2: 26,782,638 (GRCm39) |
Y230H |
probably damaging |
Het |
| Tasp1 |
C |
T |
2: 139,676,283 (GRCm39) |
V382M |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,933,338 (GRCm39) |
A642E |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,558 (GRCm39) |
T704S |
probably damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,791,145 (GRCm39) |
D61V |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,738,364 (GRCm39) |
M223I |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,687,875 (GRCm39) |
S934T |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation