Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Entpd8'

49137

Institutional Source

Beutler Lab

Gene Symbol

Entpd8

Ensembl Gene

ENSMUSG00000036813

Gene Name

ectonucleoside triphosphate diphosphohydrolase 8

Synonyms

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0531 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

24970316-24975728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24974781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 404 (Y404C)

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 damaging
Transcript: ENSMUST00000044078
AA Change: Y404C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: Y404C

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: Y364C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: Y364C

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: Y404C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: Y404C

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

Meta Mutation Damage Score

0.7686

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	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
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
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'- GAGGGTGATTTCCACAGGGATTTGC -3'
(R):5'- ATGAAGCCCAGTGTCCAGCCAATG -3'

Sequencing Primer
(F):5'- TGCAAAAGGACTTTCTGAAACAC -3'
(R):5'- TGAGACACATGGCTCTTCAG -3'

Posted On

2013-06-12