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

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

MMRRC Submission

038350-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43725294 bp (GRCm38)

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
Ankfn1	A	G	11: 89,391,676	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,765,803	S634P	probably damaging	Het
Bche	A	T	3: 73,701,321	N257K	possibly damaging	Het
Bms1	A	T	6: 118,405,229	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,119,394	V59F	unknown	Het
Camkk2	C	T	5: 122,742,198	E452K	probably damaging	Het
Ccdc121	T	C	1: 181,510,553	Y278C	probably damaging	Het
Chd9	A	G	8: 90,933,537	H375R	possibly damaging	Het
Epb41l3	A	T	17: 69,253,397	D313V	probably damaging	Het
Etv6	G	T	6: 134,248,534	E154*	probably null	Het
Fshr	T	G	17: 88,988,457	H274P	probably damaging	Het
G3bp1	A	G	11: 55,498,041	N360D	probably benign	Het
Gdf11	C	T	10: 128,886,425	R187H	probably benign	Het
Gm5346	A	T	8: 43,625,503	C561*	probably null	Het
Gpihbp1	T	A	15: 75,597,133	I52N	probably damaging	Het
H1foo	G	T	6: 115,946,973		probably benign	Het
Htt	T	C	5: 34,826,078		probably benign	Het
Iqcm	A	G	8: 75,753,386	Q324R	probably benign	Het
Kcng3	A	G	17: 83,587,756	L427P	probably damaging	Het
Klk7	T	C	7: 43,812,010	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,593,775	V50I	probably benign	Het
Lama5	A	T	2: 180,187,106		probably benign	Het
Lamtor3	T	A	3: 137,926,950		probably benign	Het
Lyplal1	G	A	1: 186,088,566	T228I	probably benign	Het
Mapk6	A	G	9: 75,388,816	Y467H	possibly damaging	Het
March6	T	C	15: 31,467,734	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,523,770	M157R	probably damaging	Het
Morc2b	T	A	17: 33,138,759	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,330,212	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497		probably null	Het
Nobox	A	G	6: 43,304,919	C407R	probably benign	Het
Nupl1	A	G	14: 60,239,475		probably null	Het
Olfr684	A	G	7: 105,157,122	S187P	probably benign	Het
Otoa	A	G	7: 121,131,347	Y590C	probably benign	Het
Pelp1	A	T	11: 70,393,832	V1070E	unknown	Het
Pglyrp3	G	T	3: 92,025,804		probably benign	Het
Plpp2	A	G	10: 79,527,229	F189S	probably damaging	Het
Polr2b	T	C	5: 77,334,535	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,669,038	T3047S	probably damaging	Het
Snx25	A	T	8: 46,038,513	W847R	probably damaging	Het
Son	T	C	16: 91,678,155	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,413,621	N923K	probably damaging	Het
Tex15	A	G	8: 33,582,027	H2534R	probably benign	Het
Ticam2	G	T	18: 46,560,334	Q229K	possibly damaging	Het
Tnfaip3	A	T	10: 19,005,293	V342E	probably damaging	Het
Traf6	A	G	2: 101,697,151	I415M	possibly damaging	Het
Trpm1	A	G	7: 64,243,586	D1062G	probably damaging	Het
Wdr59	C	T	8: 111,480,607		probably benign	Het

Other mutations in Entpd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Entpd7	APN	19	43729839	missense	probably benign	0.00
R0118:Entpd7	UTSW	19	43704312	nonsense	probably null
R0639:Entpd7	UTSW	19	43691094	missense	probably benign	0.42
R1479:Entpd7	UTSW	19	43721840	missense	probably damaging	1.00
R1532:Entpd7	UTSW	19	43691077	missense	possibly damaging	0.76
R1647:Entpd7	UTSW	19	43721745	splice site	probably benign
R1689:Entpd7	UTSW	19	43725476	missense	probably damaging	0.96
R2230:Entpd7	UTSW	19	43721816	missense	probably benign	0.07
R2231:Entpd7	UTSW	19	43721816	missense	probably benign	0.07
R2422:Entpd7	UTSW	19	43728088	missense	possibly damaging	0.66
R3807:Entpd7	UTSW	19	43725540	critical splice donor site	probably null
R3914:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R3949:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4021:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4022:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4095:Entpd7	UTSW	19	43704201	missense	probably damaging	1.00
R4737:Entpd7	UTSW	19	43691195	nonsense	probably null
R5582:Entpd7	UTSW	19	43704994	missense	probably damaging	1.00
R5653:Entpd7	UTSW	19	43691157	nonsense	probably null
R5763:Entpd7	UTSW	19	43704266	missense	probably damaging	1.00
R6508:Entpd7	UTSW	19	43691086	missense	probably damaging	1.00
R7657:Entpd7	UTSW	19	43725467	missense	possibly damaging	0.67
R8013:Entpd7	UTSW	19	43728055	missense	probably benign	0.00
R8235:Entpd7	UTSW	19	43717545	missense	probably damaging	1.00
R8880:Entpd7	UTSW	19	43704407	splice site	probably benign
R9318:Entpd7	UTSW	19	43704270	missense	possibly damaging	0.88
R9564:Entpd7	UTSW	19	43717450	missense	probably benign	0.01
Z1176:Entpd7	UTSW	19	43725358	missense	probably benign	0.43
Z1177:Entpd7	UTSW	19	43725497	missense	probably damaging	1.00

Posted On

2013-03-25