Mutagenetix > Incidental Mutation

Incidental Mutation 'R7987:Entpd8'

651514

Institutional Source

Beutler Lab

Gene Symbol

Entpd8

Ensembl Gene

ENSMUSG00000036813

Gene Name

ectonucleoside triphosphate diphosphohydrolase 8

Synonyms

MMRRC Submission

046028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24970316-24975728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24974778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 403 (D403G)

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 damaging
Transcript: ENSMUST00000044078
AA Change: D403G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: D403G

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 damaging
Transcript: ENSMUST00000114376
AA Change: D363G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: D363G

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 damaging
Transcript: ENSMUST00000114380
AA Change: D403G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: D403G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,464,317 (GRCm39)	Q161K	unknown	Het
Acsl5	T	C	19: 55,266,405 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,754,987 (GRCm39)	I695N	possibly damaging	Het
Ank2	T	C	3: 126,739,356 (GRCm39)	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,797,050 (GRCm39)	G810D	probably damaging	Het
Bod1l	A	C	5: 41,952,413 (GRCm39)	N2868K	probably damaging	Het
Brd7	T	C	8: 89,060,769 (GRCm39)	T526A	probably benign	Het
C9	T	A	15: 6,496,943 (GRCm39)	Y213*	probably null	Het
Cacna1i	G	A	15: 80,204,553 (GRCm39)		probably null	Het
Card6	T	A	15: 5,130,007 (GRCm39)	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,525,319 (GRCm39)	Y485C	probably damaging	Het
Celsr1	A	G	15: 85,917,194 (GRCm39)	F260L	probably damaging	Het
Dnah8	A	G	17: 30,963,498 (GRCm39)	D2304G	probably damaging	Het
Dnase1	A	G	16: 3,855,834 (GRCm39)	D55G	probably damaging	Het
Ecsit	C	A	9: 21,984,780 (GRCm39)	R296L	probably damaging	Het
Epha2	C	A	4: 141,035,791 (GRCm39)	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,691,432 (GRCm39)	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,225,979 (GRCm39)	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,282,812 (GRCm39)	M2R	probably benign	Het
Gpr146	G	T	5: 139,378,440 (GRCm39)	A81S	possibly damaging	Het
Heg1	C	A	16: 33,541,100 (GRCm39)	S419*	probably null	Het
Hps5	A	C	7: 46,418,475 (GRCm39)	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,882,532 (GRCm39)	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,865 (GRCm39)	M342R	probably damaging	Het
Itgal	A	G	7: 126,927,470 (GRCm39)	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,719,931 (GRCm39)	T1428A	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,959 (GRCm39)	D893G	probably benign	Het
Mst1r	A	T	9: 107,789,997 (GRCm39)		probably null	Het
Mtus2	G	T	5: 148,168,836 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,161,277 (GRCm39)	T1174A	probably benign	Het
Nsun5	G	A	5: 135,404,534 (GRCm39)	R424H	probably damaging	Het
Oacyl	A	G	18: 65,831,462 (GRCm39)	E33G	probably benign	Het
Or6c66	T	C	10: 129,461,838 (GRCm39)	I31V	probably benign	Het
Or7d10	T	C	9: 19,831,610 (GRCm39)	F35S	possibly damaging	Het
Palm	C	T	10: 79,629,539 (GRCm39)		probably benign	Het
Papln	A	G	12: 83,822,156 (GRCm39)	E337G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Setd1b	A	G	5: 123,285,743 (GRCm39)	D263G	unknown	Het
Slc10a7	T	A	8: 79,423,843 (GRCm39)	F202I	probably benign	Het
Smpd3	T	C	8: 106,986,526 (GRCm39)	I455V	probably benign	Het
Snip1	G	T	4: 124,960,732 (GRCm39)	G63W	probably damaging	Het
Sorl1	T	A	9: 41,888,857 (GRCm39)	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,332,820 (GRCm39)	T36A	probably benign	Het
Tnxb	T	C	17: 34,929,194 (GRCm39)	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,735,681 (GRCm39)	P96L	probably damaging	Het
Triobp	T	A	15: 78,885,744 (GRCm39)	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,698,318 (GRCm39)	I647T	probably benign	Het
Ttn	A	G	2: 76,721,905 (GRCm39)	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,159 (GRCm39)	I116T	probably benign	Het
Vmn1r26	A	T	6: 57,985,264 (GRCm39)	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,488,015 (GRCm39)	T296I	probably damaging	Het
Vmn2r50	T	C	7: 9,772,016 (GRCm39)	T562A	probably benign	Het
Wdfy2	A	G	14: 63,189,380 (GRCm39)	D283G	possibly damaging	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
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
R9022:Entpd8	UTSW	2	24,975,144 (GRCm39)	missense	probably benign
R9182:Entpd8	UTSW	2	24,971,931 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACAGGGATTTGCAAAAGGAC -3'
(R):5'- CAATGTCTGTGTCACCTGCC -3'

Sequencing Primer
(F):5'- CAGGGATTTGCAAAAGGACTTTCTG -3'
(R):5'- TCACCTGCCTGTGAGACACATG -3'

Posted On

2020-09-15