Incidental Mutation 'R3949:Entpd7'
| ID |
307843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd7
|
| Ensembl Gene |
ENSMUSG00000025192 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 7 |
| Synonyms |
LALP1, 1810012B13Rik, Lysal2, 2810003F23Rik, 1810020C02Rik |
| MMRRC Submission |
040929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43678111-43722136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43679597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 50
(R50Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081079]
|
| AlphaFold |
Q3TCT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081079
AA Change: R50Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: R50Q
| 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
|
| Meta Mutation Damage Score |
0.0744 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,620,455 (GRCm39) |
M314L |
probably damaging |
Het |
| Apcs |
A |
G |
1: 172,722,259 (GRCm39) |
F29S |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,386,081 (GRCm39) |
M66V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,258,467 (GRCm39) |
K269E |
probably benign |
Het |
| Chrdl2 |
A |
C |
7: 99,678,412 (GRCm39) |
E328A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,713 (GRCm39) |
N421S |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,473 (GRCm39) |
Q207K |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 64,021,292 (GRCm39) |
E591* |
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,191 (GRCm39) |
C266F |
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,478,146 (GRCm39) |
R151H |
possibly damaging |
Het |
| Gipr |
T |
C |
7: 18,891,354 (GRCm39) |
N441S |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,239 (GRCm39) |
I708T |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,498,617 (GRCm39) |
G10S |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,332,648 (GRCm39) |
K257Q |
probably damaging |
Het |
| Lcp1 |
A |
G |
14: 75,443,569 (GRCm39) |
N195S |
possibly damaging |
Het |
| Or4k48 |
A |
T |
2: 111,475,871 (GRCm39) |
I157K |
possibly damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,384 (GRCm39) |
S160P |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,840,905 (GRCm39) |
D113G |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,141 (GRCm39) |
S426P |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,444,180 (GRCm39) |
D492G |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrf1 |
A |
C |
9: 89,863,797 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,468,636 (GRCm39) |
L170H |
probably damaging |
Het |
| Sfxn4 |
A |
G |
19: 60,840,501 (GRCm39) |
Y165H |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,059,833 (GRCm39) |
V296D |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,204,290 (GRCm39) |
|
probably null |
Het |
| Tbx2 |
C |
T |
11: 85,729,101 (GRCm39) |
Q495* |
probably null |
Het |
| Trav6-1 |
G |
A |
14: 52,875,993 (GRCm39) |
V8M |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,534,428 (GRCm39) |
N46K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,348 (GRCm39) |
F432I |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,185,165 (GRCm39) |
|
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,985,453 (GRCm39) |
V272A |
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 |
|
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 |
|
R6508:Entpd7
|
UTSW |
19 |
43,679,525 (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'- GCCTTTCAGGGTGTTCATCTAG -3'
(R):5'- GGTGAGGACATAACTTAGTGACATG -3'
Sequencing Primer
(F):5'- AGCGGTAATTTATGGAGAGATTTTAG -3'
(R):5'- CTTAGTGACATGATGCTTACTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation