Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Entpd8'

686249

Institutional Source

Beutler Lab

Gene Symbol

Entpd8

Ensembl Gene

ENSMUSG00000036813

Gene Name

ectonucleoside triphosphate diphosphohydrolase 8

Synonyms

MMRRC Submission

068852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24970316-24975728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24975144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 492 (I492L)

Ref Sequence

ENSEMBL: ENSMUSP00000040628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044018] [ENSMUST00000044078] [ENSMUST00000114373] [ENSMUST00000114376] [ENSMUST00000114380] [ENSMUST00000150625]

AlphaFold

Q8K0L2

Predicted Effect

probably benign
Transcript: ENSMUST00000044018

SMART Domains

Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805

Domain	Start	End	E-Value	Type
TPR	38	71	8.17e-1	SMART
TPR	72	105	1.47e-2	SMART
TPR	122	155	1.97e1	SMART
low complexity region	166	180	N/A	INTRINSIC
low complexity region	258	274	N/A	INTRINSIC
PB1	285	365	6.76e-9	SMART
SH3	372	427	1.81e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044078
AA Change: I492L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: I492L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	34	463	1.8e-106	PFAM
transmembrane domain	472	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114373

SMART Domains

Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805

Domain	Start	End	E-Value	Type
TPR	38	71	8.17e-1	SMART
TPR	72	105	1.47e-2	SMART
TPR	122	155	1.97e1	SMART
low complexity region	166	180	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
PB1	277	357	6.76e-9	SMART
SH3	364	419	1.81e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114376
AA Change: I452L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: I452L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	34	355	1.4e-77	PFAM
Pfam:GDA1_CD39	347	423	2.1e-11	PFAM
transmembrane domain	432	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114380
AA Change: I492L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: I492L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	34	465	1.1e-100	PFAM
transmembrane domain	472	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150625

SMART Domains

Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	1	41	8.4e-8	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	Het

Other mutations in Entpd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Entpd8	APN	2	24,974,358 (GRCm39)	missense	probably benign	0.01
IGL01679:Entpd8	APN	2	24,974,378 (GRCm39)	missense	probably benign	0.01
IGL02540:Entpd8	APN	2	24,974,731 (GRCm39)	splice site	probably null
IGL02803:Entpd8	APN	2	24,975,151 (GRCm39)	missense	probably damaging	1.00
IGL02876:Entpd8	APN	2	24,975,072 (GRCm39)	missense	probably benign	0.32
R0531:Entpd8	UTSW	2	24,974,781 (GRCm39)	missense	probably damaging	1.00
R1579:Entpd8	UTSW	2	24,974,986 (GRCm39)	missense	possibly damaging	0.94
R1680:Entpd8	UTSW	2	24,974,036 (GRCm39)	missense	probably damaging	1.00
R1780:Entpd8	UTSW	2	24,974,318 (GRCm39)	missense	probably benign	0.15
R2228:Entpd8	UTSW	2	24,975,028 (GRCm39)	missense	probably damaging	0.99
R4979:Entpd8	UTSW	2	24,972,967 (GRCm39)	missense	possibly damaging	0.90
R5076:Entpd8	UTSW	2	24,975,066 (GRCm39)	missense	possibly damaging	0.60
R5276:Entpd8	UTSW	2	24,975,057 (GRCm39)	missense	probably benign	0.01
R5695:Entpd8	UTSW	2	24,974,346 (GRCm39)	missense	probably benign	0.16
R6994:Entpd8	UTSW	2	24,973,321 (GRCm39)	missense	probably damaging	0.98
R7850:Entpd8	UTSW	2	24,975,028 (GRCm39)	missense	probably damaging	0.99
R7977:Entpd8	UTSW	2	24,974,778 (GRCm39)	missense	probably damaging	0.99
R7987:Entpd8	UTSW	2	24,974,778 (GRCm39)	missense	probably damaging	0.99
R8544:Entpd8	UTSW	2	24,973,856 (GRCm39)	missense	probably benign	0.03
R8683:Entpd8	UTSW	2	24,974,992 (GRCm39)	missense	probably damaging	1.00
R8778:Entpd8	UTSW	2	24,971,858 (GRCm39)	missense	probably benign	0.16
R8904:Entpd8	UTSW	2	24,973,575 (GRCm39)	intron	probably benign
R9182:Entpd8	UTSW	2	24,971,931 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAGAGCCATGTGTCTCAC -3'
(R):5'- TCAGGGGTTCATAAGGGCAG -3'

Sequencing Primer
(F):5'- TCTCACAGGCAGGTGACACAG -3'
(R):5'- CATCTAGGATCTGCTCAGAAGGTC -3'

Posted On

2021-10-11