Incidental Mutation 'R1035:Entpd6'
ID |
95505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entpd6
|
Ensembl Gene |
ENSMUSG00000033068 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 6 |
Synonyms |
Cd39l2, NTPDase-6, 2700026H11Rik |
MMRRC Submission |
039134-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1035 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
150590962-150613595 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 150606112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094467]
|
AlphaFold |
Q3U0P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094467
|
SMART Domains |
Protein: ENSMUSP00000092038 Gene: ENSMUSG00000033068
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
65 |
453 |
7.2e-74 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147223
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fam98b |
C |
T |
2: 117,101,120 (GRCm39) |
R311W |
possibly damaging |
Het |
Ggt7 |
A |
T |
2: 155,348,347 (GRCm39) |
C102S |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
Ppig |
T |
C |
2: 69,579,803 (GRCm39) |
Y446H |
unknown |
Het |
Spmap2 |
G |
A |
10: 79,419,684 (GRCm39) |
T182M |
probably damaging |
Het |
Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
Het |
Zfp78 |
G |
T |
7: 6,381,660 (GRCm39) |
V237F |
probably damaging |
Het |
|
Other mutations in Entpd6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01890:Entpd6
|
APN |
2 |
150,612,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01980:Entpd6
|
APN |
2 |
150,604,286 (GRCm39) |
splice site |
probably null |
|
IGL03208:Entpd6
|
APN |
2 |
150,610,838 (GRCm39) |
missense |
probably damaging |
0.96 |
R0057:Entpd6
|
UTSW |
2 |
150,600,748 (GRCm39) |
missense |
probably null |
0.90 |
R0403:Entpd6
|
UTSW |
2 |
150,602,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1485:Entpd6
|
UTSW |
2 |
150,610,843 (GRCm39) |
critical splice donor site |
probably null |
|
R1532:Entpd6
|
UTSW |
2 |
150,600,670 (GRCm39) |
missense |
probably benign |
0.02 |
R1921:Entpd6
|
UTSW |
2 |
150,600,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Entpd6
|
UTSW |
2 |
150,609,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R5026:Entpd6
|
UTSW |
2 |
150,605,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Entpd6
|
UTSW |
2 |
150,612,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Entpd6
|
UTSW |
2 |
150,605,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7857:Entpd6
|
UTSW |
2 |
150,607,473 (GRCm39) |
critical splice donor site |
probably null |
|
R7949:Entpd6
|
UTSW |
2 |
150,612,197 (GRCm39) |
splice site |
probably null |
|
R8955:Entpd6
|
UTSW |
2 |
150,595,005 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9291:Entpd6
|
UTSW |
2 |
150,608,959 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAATCTGCCTGCCTTGCTGCTG -3'
(R):5'- AAGGGCCATCTGTACCCTGTCTTAC -3'
Sequencing Primer
(F):5'- GCGTGTACAGATTCCATTAGAGC -3'
(R):5'- TACCTTAGACCTGGACATATTCCAC -3'
|
Posted On |
2014-01-05 |