Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Entpd7'

20953

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

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

MMRRC Submission

038404-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0118 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 43704312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 102 (W102*)

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

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

AlphaFold

Q3TCT4

Predicted Effect

probably null
Transcript: ENSMUST00000081079
AA Change: W102*

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: W102*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,911,744	R343G	probably damaging	Het
Asxl2	T	G	12: 3,496,923	V569G	probably damaging	Het
Azin2	A	C	4: 128,949,637	H85Q	probably damaging	Het
Cacna1a	C	T	8: 84,536,083	R324C	probably damaging	Het
Ccdc151	A	T	9: 21,995,057	N224K	probably benign	Het
Ccr3	C	A	9: 124,029,610	Y327*	probably null	Het
Cers2	T	C	3: 95,320,226	F55S	probably benign	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,060,392		probably null	Het
Cpn2	T	C	16: 30,260,368	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,988,731		probably null	Het
Dennd3	T	A	15: 73,565,076	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,676,483	Y196S	probably damaging	Het
Frem2	A	T	3: 53,535,243	C2624*	probably null	Het
Gdpd3	A	G	7: 126,770,993	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,326,658	V27A	probably damaging	Het
Kat6b	T	C	14: 21,669,974	F1465L	probably damaging	Het
Klra17	A	T	6: 129,831,589	M227K	probably benign	Het
Map6	A	G	7: 99,317,617	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 120,025,215	S1472P	probably benign	Het
Megf6	C	A	4: 154,254,641	P545Q	probably damaging	Het
Mertk	C	T	2: 128,759,166	R357W	probably damaging	Het
Mesd	T	A	7: 83,895,627	I104N	probably damaging	Het
Mrm3	T	A	11: 76,249,955	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,611,561	Y488*	probably null	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nfs1	T	C	2: 156,134,524	H150R	probably damaging	Het
Olfr1500	A	G	19: 13,827,565	F277S	possibly damaging	Het
Olfr27	T	A	9: 39,144,103	M1K	probably null	Het
Olfr353	A	G	2: 36,890,023	M275T	probably benign	Het
Olfr923	T	C	9: 38,827,858	S50P	possibly damaging	Het
Pcdh8	T	C	14: 79,767,408	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,490,480	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,676,121		probably benign	Het
Ppm1e	T	A	11: 87,231,738	K464N	probably benign	Het
Rims1	T	C	1: 22,346,407	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,270,122	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Spem1	T	C	11: 69,821,545	K98E	possibly damaging	Het
St7l	T	C	3: 104,889,303	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,157,816	H337R	probably damaging	Het
Tbc1d32	T	A	10: 56,017,605	I1291F	probably benign	Het
Tnfaip6	G	T	2: 52,043,815	E61*	probably null	Het
Trib2	A	T	12: 15,793,928	W102R	probably damaging	Het
Uimc1	G	T	13: 55,085,644	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,802,839	T265S	probably benign	Het
Vps35	G	A	8: 85,294,953	T3I	probably benign	Het
Yeats2	T	A	16: 20,156,942	L63*	probably null	Het
Zfp282	A	G	6: 47,892,932	R304G	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
R0056:Entpd7	UTSW	19	43725294	missense	probably benign	0.09
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

Predicted Primers

PCR Primer
(F):5'- ACACAAAAGCTTGGCCCATAGGATG -3'
(R):5'- ACAGCAAATTCTGGATTCCTCTCGC -3'

Sequencing Primer
(F):5'- CTTGGCCCATAGGATGTGTAAG -3'
(R):5'- GGATTCCTCTCGCTGACCAG -3'

Posted On

2013-04-11