Incidental Mutation 'R6508:Entpd7'
| ID |
524053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd7
|
| Ensembl Gene |
ENSMUSG00000025192 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 7 |
| Synonyms |
LALP1, 1810012B13Rik, Lysal2, 2810003F23Rik, 1810020C02Rik |
| MMRRC Submission |
044638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43678111-43722136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43679525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 26
(R26H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081079]
|
| AlphaFold |
Q3TCT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081079
AA Change: R26H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: R26H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
75 |
534 |
3.6e-106 |
PFAM |
|
transmembrane domain
|
550 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152786
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for deletions in this gene have increased Th17 T cell levels in the lamina propria of the small intestine. They show increased resistance to Citrobacter rodentium infection and increased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
| Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
| Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
| Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
| Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
| Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
| Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
| Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
| Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
| Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
| Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
| Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
| Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
| Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
| Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
| Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
probably benign |
Het |
|
| Other mutations in Entpd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Entpd7
|
APN |
19 |
43,718,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Entpd7
|
UTSW |
19 |
43,713,733 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0118:Entpd7
|
UTSW |
19 |
43,692,751 (GRCm39) |
nonsense |
probably null |
|
|
R0639:Entpd7
|
UTSW |
19 |
43,679,533 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1479:Entpd7
|
UTSW |
19 |
43,710,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Entpd7
|
UTSW |
19 |
43,679,516 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1647:Entpd7
|
UTSW |
19 |
43,710,184 (GRCm39) |
splice site |
probably benign |
|
|
R1689:Entpd7
|
UTSW |
19 |
43,713,915 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2230:Entpd7
|
UTSW |
19 |
43,710,255 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2231:Entpd7
|
UTSW |
19 |
43,710,255 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2422:Entpd7
|
UTSW |
19 |
43,716,527 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3807:Entpd7
|
UTSW |
19 |
43,713,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3914:Entpd7
|
UTSW |
19 |
43,679,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3949:Entpd7
|
UTSW |
19 |
43,679,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4021:Entpd7
|
UTSW |
19 |
43,679,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4022:Entpd7
|
UTSW |
19 |
43,679,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4095:Entpd7
|
UTSW |
19 |
43,692,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Entpd7
|
UTSW |
19 |
43,679,634 (GRCm39) |
nonsense |
probably null |
|
|
R5582:Entpd7
|
UTSW |
19 |
43,693,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Entpd7
|
UTSW |
19 |
43,679,596 (GRCm39) |
nonsense |
probably null |
|
|
R5763:Entpd7
|
UTSW |
19 |
43,692,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Entpd7
|
UTSW |
19 |
43,713,906 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8013:Entpd7
|
UTSW |
19 |
43,716,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8235:Entpd7
|
UTSW |
19 |
43,705,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Entpd7
|
UTSW |
19 |
43,692,846 (GRCm39) |
splice site |
probably benign |
|
|
R9318:Entpd7
|
UTSW |
19 |
43,692,709 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9564:Entpd7
|
UTSW |
19 |
43,705,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Entpd7
|
UTSW |
19 |
43,713,797 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1177:Entpd7
|
UTSW |
19 |
43,713,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGACTTCTCTTGACCTGGG -3'
(R):5'- CTTACTGAGCACGTGCAAGAC -3'
Sequencing Primer
(F):5'- ACCTGGGATTTTTGCCTTTCAG -3'
(R):5'- GTCCCCTGAACTACAAACGTAAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation