Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Entpd7'

173992

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

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

MMRRC Submission

039683-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43721745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

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

AlphaFold

Q3TCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000081079

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,571	S184P	probably damaging	Het
Adgb	A	G	10: 10,395,371	F817L	probably damaging	Het
Anxa10	T	C	8: 62,092,584	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,941,784	A1081V	probably benign	Het
Baz1a	G	A	12: 54,975,198	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,639,265	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,736,372	T423I	probably damaging	Het
Chd6	A	G	2: 161,042,058	L89S	probably damaging	Het
Chrm3	A	T	13: 9,878,425	W192R	probably damaging	Het
Cnn1	C	A	9: 22,107,854	A202E	probably damaging	Het
Dcaf7	T	A	11: 106,051,802	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,502,585	V296A	possibly damaging	Het
Esr1	A	G	10: 5,001,260	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,946,492	G542C	probably damaging	Het
Exosc8	A	T	3: 54,734,101		probably null	Het
Fras1	T	A	5: 96,726,613		probably null	Het
G930045G22Rik	T	C	6: 50,846,718		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883		probably benign	Het
Gm5615	A	G	9: 36,534,440	S72P	possibly damaging	Het
Gpr155	T	C	2: 73,364,164		probably null	Het
Has1	A	G	17: 17,849,985	Y225H	probably damaging	Het
Hk3	A	G	13: 55,014,461	F110S	probably damaging	Het
Iars	A	G	13: 49,723,002	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,750,460	H281N	probably damaging	Het
Inpp4b	G	T	8: 81,856,774		probably benign	Het
Itga11	A	G	9: 62,760,370	N662D	probably benign	Het
Kif20b	A	T	19: 34,936,790	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,994,367	T237A	probably damaging	Het
Klc1	T	C	12: 111,776,887	L216P	probably damaging	Het
Krt84	G	A	15: 101,525,963	S523F	possibly damaging	Het
Lama3	A	G	18: 12,532,199	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,481,423		probably null	Het
Limch1	T	A	5: 66,999,256	S511R	probably damaging	Het
Lnx2	C	A	5: 147,027,342	V468L	probably benign	Het
Lrriq1	A	T	10: 103,170,648	C1205*	probably null	Het
Lsm4	A	G	8: 70,677,806	Y25C	probably damaging	Het
Macc1	T	C	12: 119,446,421	M308T	probably benign	Het
Miip	T	C	4: 147,865,234	S174G	probably benign	Het
Mroh9	T	G	1: 163,046,056	E510A	probably damaging	Het
Msh2	C	T	17: 87,672,636	A14V	probably benign	Het
Nbea	T	A	3: 55,630,229	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,614,456	Q167L	probably damaging	Het
Nup160	T	C	2: 90,710,088	Y854H	probably damaging	Het
Olfr1436	T	A	19: 12,298,659	I158L	probably benign	Het
Olfr519	A	G	7: 108,893,765	I214T	probably damaging	Het
Olfr642	A	G	7: 104,050,169	Y62H	probably damaging	Het
Phldb1	G	A	9: 44,715,433	P572S	probably damaging	Het
Plcb2	A	T	2: 118,723,780	M64K	possibly damaging	Het
Prr12	T	A	7: 45,034,192	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,832,743	A173S	probably benign	Het
Pygl	T	A	12: 70,197,010	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,964,094	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,953,920	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,839,362	V118L	probably benign	Het
Sbspon	C	A	1: 15,883,759	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126	Y34H	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Shc2	T	A	10: 79,626,111	M367L	probably benign	Het
Slc26a5	T	A	5: 21,813,976	K590*	probably null	Het
Slc39a12	T	C	2: 14,451,992	V597A	probably benign	Het
Slc45a3	G	A	1: 131,977,524	G81D	probably damaging	Het
Spata2l	T	C	8: 123,233,302	N416S	probably benign	Het
Tdrd6	A	C	17: 43,627,109	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,485,880	V931A	probably benign	Het
Tmem190	A	G	7: 4,784,121	D108G	probably damaging	Het
Trip11	T	A	12: 101,884,392	K853*	probably null	Het
Vmn2r111	A	T	17: 22,569,061	D436E	probably benign	Het
Zfp704	A	T	3: 9,471,039	S140R	probably damaging	Het

Other mutations in Entpd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Entpd7	APN	19	43729839	missense	probably benign	0.00
R0056:Entpd7	UTSW	19	43725294	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCATAGCAGACAATGGCTTCAGC -3'
(R):5'- GGAGGAAGCAGACCTATCCATCATAGC -3'

Sequencing Primer
(F):5'- gctgcttctcttgctgctg -3'
(R):5'- ATCATAGCTGCGTGCTACTG -3'

Posted On

2014-04-24