Mutagenetix > Incidental Mutation

Incidental Mutation 'R8196:Aven'

635433

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

067619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8196 (G1)

Quality Score

225.009

Status

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	T	A	19: 21,656,024 (GRCm39)	V102D	probably damaging	Het
Adam6b	T	A	12: 113,454,087 (GRCm39)	D301E	probably benign	Het
Adnp	A	C	2: 168,025,092 (GRCm39)	D734E	probably benign	Het
Ank2	T	A	3: 126,723,532 (GRCm39)	T932S	probably damaging	Het
Arhgap20	C	A	9: 51,760,277 (GRCm39)	D709E	possibly damaging	Het
Atoh1	A	G	6: 64,707,226 (GRCm39)	D307G	probably benign	Het
B3galt1	A	G	2: 67,948,530 (GRCm39)	I82V	probably benign	Het
Chd2	T	C	7: 73,118,285 (GRCm39)	D1111G	probably benign	Het
Csmd1	T	C	8: 16,059,468 (GRCm39)	D2089G	probably benign	Het
Dach1	T	A	14: 98,256,370 (GRCm39)	H296L	probably damaging	Het
Dennd4b	T	G	3: 90,178,904 (GRCm39)	L556R	probably damaging	Het
Dop1a	T	A	9: 86,405,151 (GRCm39)	S326T	probably benign	Het
Eif2b5	T	A	16: 20,321,306 (GRCm39)	H286Q	probably damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fn3k	T	A	11: 121,341,222 (GRCm39)	F292L	probably damaging	Het
Gm1123	G	A	9: 98,905,309 (GRCm39)	A67V	probably benign	Het
Hey2	C	T	10: 30,710,273 (GRCm39)	C160Y	probably benign	Het
Jph2	T	A	2: 163,180,621 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,343,166 (GRCm39)	S1084P	possibly damaging	Het
Macf1	T	C	4: 123,276,497 (GRCm39)	D6084G	probably damaging	Het
Mdfic	G	T	6: 15,740,989 (GRCm39)	A115S	probably benign	Het
Mki67	T	C	7: 135,297,237 (GRCm39)	E2599G	probably damaging	Het
Mtus1	A	G	8: 41,509,689 (GRCm39)	S131P	probably benign	Het
Muc16	G	T	9: 18,556,630 (GRCm39)	T3221K	unknown	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or8b3	A	G	9: 38,314,904 (GRCm39)	S245G	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdgfc	A	G	3: 80,944,811 (GRCm39)	E23G	possibly damaging	Het
Pfkp	T	C	13: 6,655,698 (GRCm39)	T312A	probably benign	Het
Pxn	A	G	5: 115,683,768 (GRCm39)	E200G	probably damaging	Het
Rai1	C	T	11: 60,076,796 (GRCm39)	H287Y	probably damaging	Het
Rap1gap	G	A	4: 137,445,275 (GRCm39)	V319I	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Selp	A	T	1: 163,961,490 (GRCm39)	D401V	possibly damaging	Het
Sh3bp5	A	G	14: 31,139,399 (GRCm39)	V58A	probably benign	Het
Shpk	A	T	11: 73,094,775 (GRCm39)	I64F	probably benign	Het
Slmap	A	G	14: 26,189,646 (GRCm39)	Y171H	probably damaging	Het
Tmem67	T	C	4: 12,075,661 (GRCm39)	T183A	probably benign	Het
Tyw1	G	T	5: 130,328,862 (GRCm39)	L549F	probably damaging	Het
Uhrf2	T	A	19: 30,051,329 (GRCm39)	M301K	probably benign	Het
Uvssa	G	A	5: 33,568,311 (GRCm39)	V532I	probably benign	Het
Vmn2r113	A	T	17: 23,176,938 (GRCm39)	K574I	probably damaging	Het
Zfp52	A	G	17: 21,782,156 (GRCm39)	N668S	possibly damaging	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
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
R8239: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'- CAGGTGCCATGAGATTGGAG -3'
(R):5'- TCAAATGAAACATGAGTGTGGCTC -3'

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

Posted On

2020-07-13