Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Entpd8'

403915

Institutional Source

Beutler Lab

Gene Symbol

Entpd8

Ensembl Gene

ENSMUSG00000036813

Gene Name

ectonucleoside triphosphate diphosphohydrolase 8

Synonyms

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24970316-24975728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24975057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 463 (R463W)

Ref Sequence

ENSEMBL: ENSMUSP00000110022 (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: R463W

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: R463W

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: R423W

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: R423W

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: R463W

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: R463W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152326

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mfn1	T	C	3: 32,618,354 (GRCm39)	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbfox3	T	C	11: 118,387,178 (GRCm39)	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,210,492 (GRCm39)	A82T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Tubb1	A	G	2: 174,299,217 (GRCm39)	M300V	probably damaging	Het
Ubfd1	C	T	7: 121,668,091 (GRCm39)	A207V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	probably 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
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
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'- CAGTTCCAGAAGCAGGTGAC -3'
(R):5'- AGGTTGACAACACAAACAGCTG -3'

Sequencing Primer
(F):5'- TGACTGCCCTAAGAATCTAGGCATG -3'
(R):5'- CACAAACAGCTGTGTTGTCACTG -3'

Posted On

2016-07-22