Incidental Mutation 'R7850:Entpd8'
| ID |
606866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd8
|
| Ensembl Gene |
ENSMUSG00000036813 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 8 |
| Synonyms |
|
| MMRRC Submission |
045903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24970316-24975728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24975028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 453
(M453T)
|
| 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 damaging
Transcript: ENSMUST00000044078
AA Change: M453T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: M453T
| 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 damaging
Transcript: ENSMUST00000114376
AA Change: M413T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: M413T
| 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 damaging
Transcript: ENSMUST00000114380
AA Change: M453T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: M453T
| 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 |
|
| Meta Mutation Damage Score |
0.4500 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,869,328 (GRCm39) |
D2E |
probably damaging |
Het |
| Abhd16b |
G |
A |
2: 181,135,518 (GRCm39) |
R140H |
not run |
Het |
| Acad11 |
G |
T |
9: 103,991,728 (GRCm39) |
G588C |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,190,023 (GRCm39) |
S625P |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,832 (GRCm39) |
L265F |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,786 (GRCm39) |
Y227C |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,575 (GRCm39) |
A848T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,739,720 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,886,111 (GRCm39) |
E93* |
probably null |
Het |
| Dcp2 |
C |
A |
18: 44,533,415 (GRCm39) |
S122* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,745 (GRCm39) |
L456P |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,114,703 (GRCm39) |
V1084D |
probably damaging |
Het |
| Grem1 |
A |
G |
2: 113,580,178 (GRCm39) |
C108R |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,392,069 (GRCm39) |
E880G |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,922,477 (GRCm39) |
M222K |
probably damaging |
Het |
| Htr1b |
G |
T |
9: 81,514,652 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,009,631 (GRCm39) |
|
probably null |
Het |
| Ifnab |
T |
G |
4: 88,609,133 (GRCm39) |
D111A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,227,053 (GRCm39) |
L2207I |
probably benign |
Het |
| Itln1 |
T |
C |
1: 171,358,166 (GRCm39) |
Y194C |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,043 (GRCm39) |
D702E |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,449,860 (GRCm39) |
E382G |
unknown |
Het |
| Lrit3 |
A |
C |
3: 129,594,452 (GRCm39) |
L42V |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,052,170 (GRCm39) |
E976G |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,996 (GRCm39) |
M167V |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,518 (GRCm39) |
I150N |
possibly damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,949 (GRCm39) |
G253R |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,827,436 (GRCm39) |
E758V |
probably damaging |
Het |
| Pcnx3 |
A |
C |
19: 5,728,960 (GRCm39) |
F967V |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,602,842 (GRCm39) |
C368F |
probably benign |
Het |
| Pi15 |
T |
A |
1: 17,673,105 (GRCm39) |
Y101* |
probably null |
Het |
| Ppp1r9a |
G |
A |
6: 4,905,894 (GRCm39) |
V150M |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,176,900 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,090,828 (GRCm39) |
V310A |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,572,293 (GRCm39) |
S696N |
probably benign |
Het |
| Setx |
T |
A |
2: 29,037,430 (GRCm39) |
V1305D |
probably damaging |
Het |
| Slk |
G |
A |
19: 47,610,796 (GRCm39) |
R822H |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,383,072 (GRCm39) |
F204I |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,571,140 (GRCm39) |
|
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,409,568 (GRCm39) |
Y15H |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,168 (GRCm39) |
S218P |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,554 (GRCm39) |
E412G |
probably damaging |
Het |
| Usp48 |
T |
G |
4: 137,333,060 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,431 (GRCm39) |
N475K |
probably damaging |
Het |
| Zscan4-ps1 |
G |
A |
7: 10,799,735 (GRCm39) |
H385Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCTCGTATTGCTGCTGG -3'
(R):5'- TGTTGACTGTGATCTACTTCAGC -3'
Sequencing Primer
(F):5'- CTGCTGGAGGGCTACAAATTC -3'
(R):5'- AGCTTGGTTTCTACCTAGTCCTGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation