Mutagenetix > Incidental Mutation

Incidental Mutation 'R5630:Aven'

442039

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

043281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5630 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112323231-112461598 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 112344890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 109 (Y109*)

Ref Sequence

ENSEMBL: ENSMUSP00000003705 (fasta)

Gene Model

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

AlphaFold

Q9D9K3

Predicted Effect

probably null
Transcript: ENSMUST00000003705
AA Change: Y109*

SMART Domains

Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604
AA Change: Y109*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3s2	A	T	7: 79,559,647 (GRCm39)	V94E	probably damaging	Het
Cad	T	C	5: 31,217,917 (GRCm39)	S401P	probably damaging	Het
Ccdc122	A	T	14: 77,330,216 (GRCm39)	I189F	probably damaging	Het
Cdkal1	A	T	13: 29,961,198 (GRCm39)		probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cnih4	C	G	1: 180,989,748 (GRCm39)	F120L	probably benign	Het
Cntnap5b	A	G	1: 99,999,794 (GRCm39)	D184G	probably damaging	Het
Cpa2	T	A	6: 30,550,731 (GRCm39)		probably null	Het
Cpne5	T	C	17: 29,445,190 (GRCm39)	D38G	probably damaging	Het
Dst	GGAATCGTGCACTCGAA	GGAA	1: 34,227,866 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,358,336 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,073,830 (GRCm39)	I239N	probably damaging	Het
Foxb1	T	A	9: 69,667,402 (GRCm39)	I43F	probably damaging	Het
Kcnq3	A	G	15: 65,896,971 (GRCm39)	W310R	probably damaging	Het
Klrb1a	A	T	6: 128,595,573 (GRCm39)	D60E	probably benign	Het
Lbr	A	G	1: 181,644,529 (GRCm39)		probably null	Het
Lsm8	T	A	6: 18,851,672 (GRCm39)	I41N	probably damaging	Het
Mroh7	T	C	4: 106,577,764 (GRCm39)	M305V	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p4	T	A	7: 107,680,323 (GRCm39)	F107L	probably benign	Het
Or8c10	T	C	9: 38,279,402 (GRCm39)	Y177H	probably damaging	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Pcdhb5	A	T	18: 37,454,208 (GRCm39)	D196V	possibly damaging	Het
Pcmt1	A	G	10: 7,524,857 (GRCm39)	Y84H	probably damaging	Het
Pcnx2	A	T	8: 126,587,697 (GRCm39)	I877K	probably damaging	Het
Pcsk5	A	G	19: 17,553,195 (GRCm39)	Y662H	probably benign	Het
Prdx1	T	A	4: 116,556,414 (GRCm39)	D187E	probably benign	Het
Ranbp2	T	G	10: 58,314,898 (GRCm39)	Y1873D	probably damaging	Het
Rcor2	A	T	19: 7,248,416 (GRCm39)	R144W	probably damaging	Het
Rptor	T	G	11: 119,647,075 (GRCm39)	I222S	probably benign	Het
Rrp8	C	A	7: 105,382,608 (GRCm39)	R448L	possibly damaging	Het
Ryr2	A	T	13: 11,616,691 (GRCm39)	I3909N	probably damaging	Het
Scn2a	T	G	2: 65,556,709 (GRCm39)	V1147G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Smox	C	T	2: 131,366,786 (GRCm39)	Q582*	probably null	Het
Sqor	T	A	2: 122,651,277 (GRCm39)	L180H	possibly damaging	Het
Stox2	T	C	8: 47,644,925 (GRCm39)	D845G	probably damaging	Het
Szt2	T	C	4: 118,250,102 (GRCm39)	I469V	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tox	C	CTGGAGT	4: 6,688,835 (GRCm39)		probably benign	Het
Trgc2	A	G	13: 19,489,279 (GRCm39)	F151S	possibly damaging	Het
Upf2	T	C	2: 6,032,112 (GRCm39)	V141A	probably damaging	Het
Usp54	A	G	14: 20,615,125 (GRCm39)	L772P	probably damaging	Het
Vmn2r83	A	T	10: 79,327,785 (GRCm39)	T798S	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp143	C	T	7: 109,687,980 (GRCm39)	T473I	probably 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
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
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'- TGCTTAGGATCCCAGCCTTG -3'
(R):5'- GACATTCAGTATTATAGGCATGAGC -3'

Sequencing Primer
(F):5'- AGGATCCCAGCCTTGTTTACAAATTC -3'
(R):5'- AGAGAACTCACTGCTTGCTG -3'

Posted On

2016-11-08