Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Aven'

637491

Institutional Source

Beutler Lab

Gene Symbol

Aven

Ensembl Gene

ENSMUSG00000003604

Gene Name

apoptosis, caspase activation inhibitor

Synonyms

1700056A21Rik, 1700013A01Rik, mAven-L, mAven-S

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112492964-112634573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112559775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 8 (R8W)

Ref Sequence

ENSEMBL: ENSMUSP00000097184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003705] [ENSMUST00000099588]

AlphaFold

Q9D9K3

Predicted Effect

probably benign
Transcript: ENSMUST00000003705

SMART Domains

Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
low complexity region	35	73	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099588
AA Change: R8W

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

SMART Domains

Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604
AA Change: R8W

Domain	Start	End	E-Value	Type
low complexity region	135	148	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit increased cell death in response to various apoptotic stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 40,825,069	S166P	probably damaging	Het
Appl1	T	A	14: 26,964,957	T19S	probably damaging	Het
Arid4b	T	A	13: 14,170,009	D557E	probably benign	Het
C2cd2l	T	C	9: 44,316,205	E307G	possibly damaging	Het
Cdh7	A	C	1: 110,100,102	T526P	probably benign	Het
Dchs1	C	T	7: 105,765,511	V775M	probably benign	Het
Dennd1b	A	G	1: 139,041,935	N63S	probably benign	Het
Dtnb	A	T	12: 3,644,056	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,720,061	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,350,453	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,941,310	L2351P	unknown	Het
Fsip2	T	G	2: 82,989,343	I5140S	possibly damaging	Het
Gm8674	T	C	13: 49,900,226	T749A	noncoding transcript	Het
Grasp	C	T	15: 101,231,021	L217F	probably damaging	Het
Inadl	A	G	4: 98,682,071	E1711G	possibly damaging	Het
Kalrn	A	G	16: 34,049,783	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,387,470	N141K	probably damaging	Het
Lrba	G	A	3: 86,542,575	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,481,267	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,320,817	F88V	probably damaging	Het
Mboat1	T	C	13: 30,245,350	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,519,828	P40S	probably benign	Het
Olfr1065	C	A	2: 86,445,129	M284I	noncoding transcript	Het
Olfr1249	T	A	2: 89,630,563	I112F	probably damaging	Het
Olfr1535	T	C	13: 21,555,618	I135V	probably benign	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Pcdha4	A	T	18: 36,953,075	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plekhg4	C	T	8: 105,380,914	R990*	probably null	Het
Pphln1	T	C	15: 93,489,049	S343P	probably benign	Het
Pram1	A	T	17: 33,641,267	K269N	probably damaging	Het
Psmd13	T	A	7: 140,886,537	I79K	probably damaging	Het
Ptprf	T	C	4: 118,212,112	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,581,091	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,865,468	R119Q	probably benign	Het
Rreb1	T	C	13: 37,893,872	M20T	probably damaging	Het
Scrn2	T	G	11: 97,032,220	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,131,607	V254I	probably benign	Het
Slc6a6	T	C	6: 91,724,970	F120L	probably benign	Het
Slc8a2	A	T	7: 16,145,305	H572L	probably benign	Het
Spats2	T	A	15: 99,208,895	D357E	probably damaging	Het
Speg	A	T	1: 75,419,033	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,783,937	V2A	unknown	Het
Susd3	T	C	13: 49,231,255	T231A	probably benign	Het
Tcp1	A	G	17: 12,920,851	D261G	probably benign	Het
Trpm2	C	G	10: 77,936,002	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,423,800	F124L	probably benign	Het
Unc80	G	T	1: 66,654,019	E2522D	probably benign	Het
Usp34	A	G	11: 23,446,750	T2365A		Het
Vmn2r92	G	T	17: 18,185,016	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,404	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,329,185	K246N	probably damaging	Het
Zer1	T	A	2: 30,101,135		probably null	Het

Other mutations in Aven

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Aven	APN	2	112629785	missense	possibly damaging	0.74
IGL01477:Aven	APN	2	112629932	missense	probably benign	0.04
Trifle	UTSW	2	112627768	missense	probably damaging	0.99
R1556:Aven	UTSW	2	112630885	missense	probably damaging	0.99
R2124:Aven	UTSW	2	112625196	missense	probably damaging	1.00
R4232:Aven	UTSW	2	112627768	missense	probably damaging	0.99
R5630:Aven	UTSW	2	112514545	nonsense	probably null
R7217:Aven	UTSW	2	112630846	missense	possibly damaging	0.84
R8196:Aven	UTSW	2	112559775	missense	probably benign
R8198:Aven	UTSW	2	112559775	missense	probably benign
R8199:Aven	UTSW	2	112559775	missense	probably benign
R8211:Aven	UTSW	2	112559775	missense	probably benign
R8236:Aven	UTSW	2	112559775	missense	probably benign
R8279:Aven	UTSW	2	112559775	missense	probably benign
R8283:Aven	UTSW	2	112559775	missense	probably benign
R9542:Aven	UTSW	2	112625172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGGATTCACGGAGGCAG -3'
(R):5'- TGGCTCAGAAATTCTCCAGAAC -3'

Sequencing Primer
(F):5'- CCCCAGGTGAGGACCATGTAAG -3'
(R):5'- AACTTACTTTACTGTCTCTAAAGCAG -3'

Posted On

2020-07-13