Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Aven'

170251

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

039595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112323231-112461598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112461230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 215 (M215I)

Ref Sequence

ENSEMBL: ENSMUSP00000097184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003705] [ENSMUST00000080673] [ENSMUST00000091818] [ENSMUST00000099588] [ENSMUST00000134358] [ENSMUST00000208151] [ENSMUST00000208290]

AlphaFold

Q9D9K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000003705
AA Change: M340I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604
AA Change: M340I

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: ENSMUST00000080673

SMART Domains

Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378

Domain	Start	End	E-Value	Type
low complexity region	90	99	N/A	INTRINSIC
MIR	100	155	3.27e-4	SMART
MIR	162	207	7.52e-4	SMART
MIR	215	269	8.06e-4	SMART
MIR	275	368	8.4e-25	SMART
Pfam:RYDR_ITPR	438	642	1.1e-71	PFAM
SPRY	657	795	1.16e-24	SMART
Pfam:RyR	848	942	1.5e-34	PFAM
Pfam:RyR	962	1056	1.2e-32	PFAM
SPRY	1084	1207	7.99e-37	SMART
SPRY	1325	1465	6.25e-30	SMART
low complexity region	1757	1772	N/A	INTRINSIC
low complexity region	1773	1788	N/A	INTRINSIC
low complexity region	1932	1957	N/A	INTRINSIC
Pfam:RYDR_ITPR	2018	2228	1.8e-59	PFAM
Pfam:RyR	2595	2689	1.2e-36	PFAM
Pfam:RyR	2713	2801	2.1e-31	PFAM
low complexity region	2877	2887	N/A	INTRINSIC
low complexity region	3169	3184	N/A	INTRINSIC
low complexity region	3327	3338	N/A	INTRINSIC
PDB:2BCX\|B	3462	3491	9e-12	PDB
low complexity region	3532	3540	N/A	INTRINSIC
coiled coil region	3585	3614	N/A	INTRINSIC
Pfam:RIH_assoc	3715	3848	4.9e-40	PFAM
low complexity region	3855	3875	N/A	INTRINSIC
SCOP:d1sra__	3893	3989	1e-10	SMART
low complexity region	4096	4134	N/A	INTRINSIC
transmembrane domain	4178	4200	N/A	INTRINSIC
Pfam:RR_TM4-6	4227	4497	4.7e-96	PFAM
Pfam:Ion_trans	4599	4762	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091818

SMART Domains

Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378

Domain	Start	End	E-Value	Type
low complexity region	110	119	N/A	INTRINSIC
MIR	120	175	3.27e-4	SMART
MIR	182	227	7.52e-4	SMART
MIR	235	289	8.06e-4	SMART
MIR	295	388	8.4e-25	SMART
Pfam:RYDR_ITPR	460	655	1.2e-64	PFAM
SPRY	677	815	1.16e-24	SMART
Pfam:RyR	869	959	3.3e-38	PFAM
Pfam:RyR	983	1073	2.5e-32	PFAM
SPRY	1104	1227	7.99e-37	SMART
SPRY	1345	1485	6.25e-30	SMART
low complexity region	1777	1792	N/A	INTRINSIC
low complexity region	1793	1808	N/A	INTRINSIC
low complexity region	1952	1977	N/A	INTRINSIC
Pfam:RYDR_ITPR	2040	2248	5.8e-67	PFAM
Pfam:RyR	2616	2706	6.3e-33	PFAM
Pfam:RyR	2734	2818	6.6e-26	PFAM
low complexity region	2897	2907	N/A	INTRINSIC
low complexity region	3189	3204	N/A	INTRINSIC
PDB:2BCX\|B	3487	3516	1e-11	PDB
low complexity region	3557	3565	N/A	INTRINSIC
coiled coil region	3610	3639	N/A	INTRINSIC
Pfam:RIH_assoc	3744	3862	3.5e-34	PFAM
low complexity region	3880	3900	N/A	INTRINSIC
SCOP:d1sra__	3918	4014	1e-10	SMART
low complexity region	4121	4159	N/A	INTRINSIC
transmembrane domain	4203	4225	N/A	INTRINSIC
Pfam:RR_TM4-6	4252	4522	1.1e-98	PFAM
Pfam:Ion_trans	4625	4799	6.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099588
AA Change: M215I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604
AA Change: M215I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127894

Predicted Effect

probably benign
Transcript: ENSMUST00000134358

Predicted Effect

probably benign
Transcript: ENSMUST00000208151

Predicted Effect

probably benign
Transcript: ENSMUST00000208290

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or4k15c	G	A	14: 50,321,916 (GRCm39)	A74V	possibly damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 54,015,836 (GRCm39)	T408A	probably damaging	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,502,911 (GRCm39)		probably null	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sgtb	T	A	13: 104,276,284 (GRCm39)	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	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
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
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'- TCTAACCTCACCATGAGGACTGACG -3'
(R):5'- ACTACTGGAGTCAGGGACATGAGAC -3'

Sequencing Primer
(F):5'- CTGACGTGGAGTGGCTAAC -3'
(R):5'- GTAGCTGTGACATCCCCTG -3'

Posted On

2014-04-13