Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Entpd7'

18423

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

LALP1, 1810012B13Rik, Lysal2, 2810003F23Rik, 1810020C02Rik

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43678111-43722136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43713733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 364 (V364E)

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081079]

AlphaFold

Q3TCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000081079
AA Change: V364E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: V364E

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: ENSMUST00000131293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144314

Meta Mutation Damage Score

0.3494

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.7%
20x: 65.9%

Validation Efficiency

89% (66/74)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,540 (GRCm39)	C561*	probably null	Het
Ankfn1	A	G	11: 89,282,502 (GRCm39)	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,809,018 (GRCm39)	S634P	probably damaging	Het
Bche	A	T	3: 73,608,654 (GRCm39)	N257K	possibly damaging	Het
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,846,026 (GRCm39)	V59F	unknown	Het
Camkk2	C	T	5: 122,880,261 (GRCm39)	E452K	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,118 (GRCm39)	Y278C	probably damaging	Het
Chd9	A	G	8: 91,660,165 (GRCm39)	H375R	possibly damaging	Het
Epb41l3	A	T	17: 69,560,392 (GRCm39)	D313V	probably damaging	Het
Etv6	G	T	6: 134,225,497 (GRCm39)	E154*	probably null	Het
Fshr	T	G	17: 89,295,885 (GRCm39)	H274P	probably damaging	Het
G3bp1	A	G	11: 55,388,867 (GRCm39)	N360D	probably benign	Het
Gdf11	C	T	10: 128,722,294 (GRCm39)	R187H	probably benign	Het
Gpihbp1	T	A	15: 75,468,982 (GRCm39)	I52N	probably damaging	Het
H1f8	G	T	6: 115,923,934 (GRCm39)		probably benign	Het
Htt	T	C	5: 34,983,422 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,014 (GRCm39)	Q324R	probably benign	Het
Kcng3	A	G	17: 83,895,185 (GRCm39)	L427P	probably damaging	Het
Klk7	T	C	7: 43,461,434 (GRCm39)	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,570,738 (GRCm39)	V50I	probably benign	Het
Lama5	A	T	2: 179,828,899 (GRCm39)		probably benign	Het
Lamtor3	T	A	3: 137,632,711 (GRCm39)		probably benign	Het
Lyplal1	G	A	1: 185,820,763 (GRCm39)	T228I	probably benign	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marchf6	T	C	15: 31,467,880 (GRCm39)	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Morc2b	T	A	17: 33,357,733 (GRCm39)	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,468,273 (GRCm39)	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497 (GRCm38)		probably null	Het
Nobox	A	G	6: 43,281,853 (GRCm39)	C407R	probably benign	Het
Nup58	A	G	14: 60,476,924 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,329 (GRCm39)	S187P	probably benign	Het
Otoa	A	G	7: 120,730,570 (GRCm39)	Y590C	probably benign	Het
Pelp1	A	T	11: 70,284,658 (GRCm39)	V1070E	unknown	Het
Pglyrp3	G	T	3: 91,933,111 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,363,063 (GRCm39)	F189S	probably damaging	Het
Polr2b	T	C	5: 77,482,382 (GRCm39)	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,683,924 (GRCm39)	T3047S	probably damaging	Het
Snx25	A	T	8: 46,491,550 (GRCm39)	W847R	probably damaging	Het
Son	T	C	16: 91,475,043 (GRCm39)	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,721,050 (GRCm39)	N923K	probably damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het
Tnfaip3	A	T	10: 18,881,041 (GRCm39)	V342E	probably damaging	Het
Traf6	A	G	2: 101,527,496 (GRCm39)	I415M	possibly damaging	Het
Trpm1	A	G	7: 63,893,334 (GRCm39)	D1062G	probably damaging	Het
Wdr59	C	T	8: 112,207,239 (GRCm39)		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
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
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

Posted On

2013-03-25