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

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

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112323231-112461598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112390120 bp (GRCm39)

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: 41,278,106 (GRCm39)	S166P	probably damaging	Het
Appl1	T	A	14: 26,686,914 (GRCm39)	T19S	probably damaging	Het
Arid4b	T	A	13: 14,344,594 (GRCm39)	D557E	probably benign	Het
C2cd2l	T	C	9: 44,227,502 (GRCm39)	E307G	possibly damaging	Het
Cdh20	A	C	1: 110,027,832 (GRCm39)	T526P	probably benign	Het
Dchs1	C	T	7: 105,414,718 (GRCm39)	V775M	probably benign	Het
Dennd1b	A	G	1: 138,969,673 (GRCm39)	N63S	probably benign	Het
Dtnb	A	T	12: 3,694,056 (GRCm39)	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,770,089 (GRCm39)	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,803,490 (GRCm39)	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,839,191 (GRCm39)	L2351P	unknown	Het
Fsip2	T	G	2: 82,819,687 (GRCm39)	I5140S	possibly damaging	Het
Gm8674	T	C	13: 50,054,262 (GRCm39)	T749A	noncoding transcript	Het
Kalrn	A	G	16: 33,870,153 (GRCm39)	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,624,919 (GRCm39)	N141K	probably damaging	Het
Lrba	G	A	3: 86,449,882 (GRCm39)	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,311,611 (GRCm39)	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,297,778 (GRCm39)	F88V	probably damaging	Het
Mboat1	T	C	13: 30,429,333 (GRCm39)	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,253,753 (GRCm39)	P40S	probably benign	Het
Or2b7	T	C	13: 21,739,788 (GRCm39)	I135V	probably benign	Het
Or4a76	T	A	2: 89,460,907 (GRCm39)	I112F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Or8k27	C	A	2: 86,275,473 (GRCm39)	M284I	noncoding transcript	Het
Patj	A	G	4: 98,570,308 (GRCm39)	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 37,086,128 (GRCm39)	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhg4	C	T	8: 106,107,546 (GRCm39)	R990*	probably null	Het
Pphln1	T	C	15: 93,386,930 (GRCm39)	S343P	probably benign	Het
Pram1	A	T	17: 33,860,241 (GRCm39)	K269N	probably damaging	Het
Psmd13	T	A	7: 140,466,450 (GRCm39)	I79K	probably damaging	Het
Ptprf	T	C	4: 118,069,309 (GRCm39)	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,584,090 (GRCm39)	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rreb1	T	C	13: 38,077,848 (GRCm39)	M20T	probably damaging	Het
Scrn2	T	G	11: 96,923,046 (GRCm39)	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc6a6	T	C	6: 91,701,951 (GRCm39)	F120L	probably benign	Het
Slc8a2	A	T	7: 15,879,230 (GRCm39)	H572L	probably benign	Het
Spats2	T	A	15: 99,106,776 (GRCm39)	D357E	probably damaging	Het
Speg	A	T	1: 75,395,677 (GRCm39)	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,433,361 (GRCm39)	V2A	unknown	Het
Susd3	T	C	13: 49,384,731 (GRCm39)	T231A	probably benign	Het
Tamalin	C	T	15: 101,128,902 (GRCm39)	L217F	probably damaging	Het
Tcp1	A	G	17: 13,139,738 (GRCm39)	D261G	probably benign	Het
Trpm2	C	G	10: 77,771,836 (GRCm39)	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,571,659 (GRCm39)	F124L	probably benign	Het
Unc80	G	T	1: 66,693,178 (GRCm39)	E2522D	probably benign	Het
Usp34	A	G	11: 23,396,750 (GRCm39)	T2365A		Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,550 (GRCm39)	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,819,213 (GRCm39)	K246N	probably damaging	Het
Zer1	T	A	2: 29,991,147 (GRCm39)		probably null	Het

Other mutations in Aven

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Aven	APN	2	112,460,130 (GRCm39)	missense	possibly damaging	0.74
IGL01477:Aven	APN	2	112,460,277 (GRCm39)	missense	probably benign	0.04
Trifle	UTSW	2	112,458,113 (GRCm39)	missense	probably damaging	0.99
R1556:Aven	UTSW	2	112,461,230 (GRCm39)	missense	probably damaging	0.99
R2124:Aven	UTSW	2	112,455,541 (GRCm39)	missense	probably damaging	1.00
R4232:Aven	UTSW	2	112,458,113 (GRCm39)	missense	probably damaging	0.99
R5630:Aven	UTSW	2	112,344,890 (GRCm39)	nonsense	probably null
R7217:Aven	UTSW	2	112,461,191 (GRCm39)	missense	possibly damaging	0.84
R8196:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8198:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8199:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8211:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8236:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8279:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R8283:Aven	UTSW	2	112,390,120 (GRCm39)	missense	probably benign
R9542:Aven	UTSW	2	112,455,517 (GRCm39)	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