Mutagenetix > Incidental Mutation

Incidental Mutation 'R8544:Entpd8'

659501

Institutional Source

Beutler Lab

Gene Symbol

Entpd8

Ensembl Gene

ENSMUSG00000036813

Gene Name

ectonucleoside triphosphate diphosphohydrolase 8

Synonyms

MMRRC Submission

068509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24970316-24975728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24973856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

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: V271A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: V271A

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: V268A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: V268A

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: V271A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: V271A

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: 98.6%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	A	15: 37,425,979 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,832,461 (GRCm39)	L1171H	probably damaging	Het
Ace	A	T	11: 105,862,116 (GRCm39)		probably null	Het
Adsl	G	T	15: 80,832,734 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,585,890 (GRCm39)	M215T	probably benign	Het
Cabp2	A	T	19: 4,134,892 (GRCm39)	R77S	probably damaging	Het
Cast	A	T	13: 74,882,177 (GRCm39)	H40Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,358 (GRCm39)	Y946N	unknown	Het
Ccdc9b	C	T	2: 118,587,702 (GRCm39)	R544K	unknown	Het
Chst14	A	G	2: 118,758,010 (GRCm39)	Y268C	probably damaging	Het
Dennd1a	T	C	2: 37,872,920 (GRCm39)		probably null	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fam234b	A	G	6: 135,210,287 (GRCm39)	Y561C	probably damaging	Het
Flg	A	G	3: 93,195,448 (GRCm39)		probably benign	Het
Galnt5	T	A	2: 57,907,160 (GRCm39)	M541K	probably damaging	Het
Gjd3	C	A	11: 98,873,488 (GRCm39)	E119*	probably null	Het
Gm266	T	C	12: 111,451,799 (GRCm39)	T136A	possibly damaging	Het
Gng11	G	A	6: 4,008,045 (GRCm39)	C36Y	possibly damaging	Het
Gse1	G	A	8: 121,280,391 (GRCm39)	V36I	probably damaging	Het
Hycc2	T	C	1: 58,568,981 (GRCm39)	T477A	probably benign	Het
Invs	A	T	4: 48,397,598 (GRCm39)	H335L	probably damaging	Het
Kcnc2	A	T	10: 112,292,101 (GRCm39)	I28F	probably damaging	Het
Klhl40	C	T	9: 121,607,892 (GRCm39)	H351Y	probably damaging	Het
Kremen2	A	G	17: 23,961,201 (GRCm39)	L382P	probably benign	Het
Lenep	A	T	3: 89,309,784 (GRCm39)	C55S	possibly damaging	Het
Lrp12	A	T	15: 39,741,970 (GRCm39)	Y248*	probably null	Het
Man2c1	A	G	9: 57,038,325 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,376 (GRCm39)	M32T	possibly damaging	Het
Mnt	A	G	11: 74,722,218 (GRCm39)	R22G	probably damaging	Het
Mroh1	G	T	15: 76,327,558 (GRCm39)	E1127*	probably null	Het
Mtmr4	A	G	11: 87,502,735 (GRCm39)	R930G	possibly damaging	Het
Nalcn	A	G	14: 123,608,935 (GRCm39)	V644A	probably benign	Het
Ngf	G	T	3: 102,427,991 (GRCm39)	V247F	probably damaging	Het
Ninj2	A	G	6: 120,175,018 (GRCm39)	Y63C	probably damaging	Het
Or4c121	T	C	2: 89,024,312 (GRCm39)	E22G	possibly damaging	Het
Or51g2	A	T	7: 102,622,938 (GRCm39)	I87N	probably damaging	Het
Phf12	A	C	11: 77,918,235 (GRCm39)	I816L	probably damaging	Het
Pkhd1	C	A	1: 20,593,199 (GRCm39)	G1638V	probably damaging	Het
Plce1	T	A	19: 38,512,903 (GRCm39)	S67R	probably benign	Het
Plekhf1	A	G	7: 37,920,768 (GRCm39)	F267L	probably damaging	Het
Poc1b	A	T	10: 98,960,770 (GRCm39)	K60*	probably null	Het
Ppic	G	A	18: 53,544,612 (GRCm39)	T66M	probably damaging	Het
Prep	G	T	10: 45,029,223 (GRCm39)	G541V	probably damaging	Het
Rasal3	C	T	17: 32,611,093 (GRCm39)	V947I	probably benign	Het
Rbl1	T	C	2: 157,035,124 (GRCm39)	R319G	probably damaging	Het
Rbm34	A	G	8: 127,696,821 (GRCm39)	S94P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sacm1l	T	C	9: 123,406,123 (GRCm39)		probably null	Het
Scaf8	T	C	17: 3,213,295 (GRCm39)		probably benign	Het
Scrn1	T	A	6: 54,499,841 (GRCm39)	T215S	probably benign	Het
Sfrp4	A	G	13: 19,816,336 (GRCm39)		probably null	Het
Slc37a3	T	C	6: 39,321,297 (GRCm39)	I406V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sptbn1	C	A	11: 30,169,750 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,342,114 (GRCm39)	Y275H	probably damaging	Het
Stab1	A	T	14: 30,885,008 (GRCm39)	C137*	probably null	Het
Svep1	A	G	4: 58,206,025 (GRCm39)	S118P	probably benign	Het
Tbx6	A	G	7: 126,380,656 (GRCm39)		probably null	Het
Tril	C	T	6: 53,796,295 (GRCm39)	S309N	possibly damaging	Het
Trmt13	A	G	3: 116,386,094 (GRCm39)		probably null	Het
Trpm1	T	A	7: 63,874,356 (GRCm39)		probably null	Het
Tyr	T	C	7: 87,142,000 (GRCm39)	T110A	probably benign	Het
Upf1	A	C	8: 70,789,702 (GRCm39)	F711C	probably damaging	Het
Usp5	A	T	6: 124,800,480 (GRCm39)	V267D	probably damaging	Het
Virma	C	A	4: 11,516,949 (GRCm39)	D714E	probably benign	Het
Vmn2r115	A	C	17: 23,564,773 (GRCm39)	Q220P	possibly damaging	Het
Vmn2r40	T	C	7: 8,911,191 (GRCm39)	I701V		Het
Vwde	T	A	6: 13,187,652 (GRCm39)	M612L	probably benign	Het
Wwox	A	G	8: 115,215,646 (GRCm39)	T140A	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zbtb9	T	A	17: 27,193,448 (GRCm39)	C284*	probably null	Het
Zdhhc12	C	A	2: 29,983,486 (GRCm39)	A39S	probably benign	Het
Zfp532	T	A	18: 65,758,227 (GRCm39)	I720K	possibly damaging	Het
Zfp595	G	A	13: 67,465,244 (GRCm39)	R340C	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
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
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'- CACAGCTACCTCTGCTTTGG -3'
(R):5'- GGTAGATGCCATTGAAAGCAC -3'

Sequencing Primer
(F):5'- TTTGGGCGGGACCAGATC -3'
(R):5'- CCCTTACAGCTGGAGAAGTTG -3'

Posted On

2021-01-18