Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Acin1'

224426

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610510L13Rik, Acinus, 2610036I19Rik

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54642161-54686931 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 54646699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000022794] [ENSMUST00000022794] [ENSMUST00000022794] [ENSMUST00000111484] [ENSMUST00000111484] [ENSMUST00000111484] [ENSMUST00000111484] [ENSMUST00000123875] [ENSMUST00000123875] [ENSMUST00000123875] [ENSMUST00000123875] [ENSMUST00000126166] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000141453] [ENSMUST00000148754] [ENSMUST00000148754] [ENSMUST00000148754] [ENSMUST00000148754] [ENSMUST00000150371] [ENSMUST00000150371] [ENSMUST00000167015] [ENSMUST00000167015] [ENSMUST00000169818]

AlphaFold

Q9JIX8

Predicted Effect

probably null
Transcript: ENSMUST00000022793

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	175	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	414	423	N/A	INTRINSIC
low complexity region	573	603	N/A	INTRINSIC
low complexity region	631	662	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
low complexity region	760	773	N/A	INTRINSIC
low complexity region	778	792	N/A	INTRINSIC
low complexity region	803	813	N/A	INTRINSIC
internal_repeat_1	817	892	1.63e-6	PROSPERO
low complexity region	927	952	N/A	INTRINSIC
RRM	1012	1081	8.3e-2	SMART
Pfam:RSB_motif	1139	1246	5.7e-30	PFAM
low complexity region	1275	1329	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000022793

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	175	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	414	423	N/A	INTRINSIC
low complexity region	573	603	N/A	INTRINSIC
low complexity region	631	662	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
low complexity region	760	773	N/A	INTRINSIC
low complexity region	778	792	N/A	INTRINSIC
low complexity region	803	813	N/A	INTRINSIC
internal_repeat_1	817	892	1.63e-6	PROSPERO
low complexity region	927	952	N/A	INTRINSIC
RRM	1012	1081	8.3e-2	SMART
Pfam:RSB_motif	1139	1246	5.7e-30	PFAM
low complexity region	1275	1329	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123875

SMART Domains

Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
low complexity region	112	122	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123875

SMART Domains

Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
low complexity region	112	122	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123875

SMART Domains

Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
low complexity region	112	122	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123875

SMART Domains

Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	87	101	N/A	INTRINSIC
low complexity region	112	122	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125767

Predicted Effect

probably null
Transcript: ENSMUST00000126166

SMART Domains

Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	154	179	N/A	INTRINSIC
RRM	239	308	8.3e-2	SMART
low complexity region	340	390	N/A	INTRINSIC
low complexity region	397	435	N/A	INTRINSIC
PDB:4A8X\|B	436	460	4e-6	PDB
low complexity region	462	497	N/A	INTRINSIC
low complexity region	502	556	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000126166

SMART Domains

Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	154	179	N/A	INTRINSIC
RRM	239	308	8.3e-2	SMART
low complexity region	340	390	N/A	INTRINSIC
low complexity region	397	435	N/A	INTRINSIC
PDB:4A8X\|B	436	460	4e-6	PDB
low complexity region	462	497	N/A	INTRINSIC
low complexity region	502	556	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137763

Predicted Effect

probably benign
Transcript: ENSMUST00000138321

SMART Domains

Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
Pfam:RSB_motif	20	128	4.7e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141453

SMART Domains

Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	141	166	N/A	INTRINSIC
RRM	226	295	8.3e-2	SMART
low complexity region	327	377	N/A	INTRINSIC
low complexity region	384	422	N/A	INTRINSIC
PDB:4A8X\|B	423	447	4e-6	PDB
low complexity region	449	484	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141453

SMART Domains

Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	141	166	N/A	INTRINSIC
RRM	226	295	8.3e-2	SMART
low complexity region	327	377	N/A	INTRINSIC
low complexity region	384	422	N/A	INTRINSIC
PDB:4A8X\|B	423	447	4e-6	PDB
low complexity region	449	484	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000147714

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	18	52	1.29e-8	SMART
coiled coil region	83	120	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
coiled coil region	204	245	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC
low complexity region	360	369	N/A	INTRINSIC
low complexity region	519	549	N/A	INTRINSIC
low complexity region	577	608	N/A	INTRINSIC
low complexity region	680	689	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
low complexity region	861	886	N/A	INTRINSIC
RRM	946	1015	8.3e-2	SMART
Pfam:RSB_motif	1065	1180	1.1e-29	PFAM
low complexity region	1209	1263	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000147714

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	18	52	1.29e-8	SMART
coiled coil region	83	120	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
coiled coil region	204	245	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC
low complexity region	360	369	N/A	INTRINSIC
low complexity region	519	549	N/A	INTRINSIC
low complexity region	577	608	N/A	INTRINSIC
low complexity region	680	689	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
low complexity region	861	886	N/A	INTRINSIC
RRM	946	1015	8.3e-2	SMART
Pfam:RSB_motif	1065	1180	1.1e-29	PFAM
low complexity region	1209	1263	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150371

SMART Domains

Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
low complexity region	223	248	N/A	INTRINSIC
RRM	308	377	8.3e-2	SMART
low complexity region	409	459	N/A	INTRINSIC
low complexity region	466	504	N/A	INTRINSIC
PDB:4A8X\|B	505	529	3e-6	PDB
low complexity region	531	566	N/A	INTRINSIC
low complexity region	571	625	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150371

SMART Domains

Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
low complexity region	223	248	N/A	INTRINSIC
RRM	308	377	8.3e-2	SMART
low complexity region	409	459	N/A	INTRINSIC
low complexity region	466	504	N/A	INTRINSIC
PDB:4A8X\|B	505	529	3e-6	PDB
low complexity region	531	566	N/A	INTRINSIC
low complexity region	571	625	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167015

SMART Domains

Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167015

SMART Domains

Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152773

Predicted Effect

probably benign
Transcript: ENSMUST00000169818

SMART Domains

Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

Domain	Start	End	E-Value	Type
low complexity region	1	61	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Acin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Acin1	APN	14	54646800	missense	probably damaging	1.00
IGL01530:Acin1	APN	14	54643986	missense	probably damaging	1.00
IGL02396:Acin1	APN	14	54644799	intron	probably benign
IGL02967:Acin1	APN	14	54642753	missense	possibly damaging	0.80
Protuberant	UTSW	14	54645283	missense	probably damaging	1.00
R0411:Acin1	UTSW	14	54646774	missense	probably damaging	1.00
R0723:Acin1	UTSW	14	54665451	missense	probably damaging	0.98
R0755:Acin1	UTSW	14	54651835	start codon destroyed	probably null	0.93
R0784:Acin1	UTSW	14	54653528	unclassified	probably benign
R1600:Acin1	UTSW	14	54643717	intron	probably benign
R1682:Acin1	UTSW	14	54663718	missense	probably damaging	1.00
R1721:Acin1	UTSW	14	54664538	missense	probably benign	0.01
R1756:Acin1	UTSW	14	54665204	missense	probably benign	0.30
R1867:Acin1	UTSW	14	54644261	missense	probably damaging	1.00
R2067:Acin1	UTSW	14	54665254	missense	probably damaging	1.00
R3947:Acin1	UTSW	14	54679333	missense	possibly damaging	0.89
R4374:Acin1	UTSW	14	54653894	unclassified	probably benign
R4476:Acin1	UTSW	14	54645330	missense	probably damaging	1.00
R4501:Acin1	UTSW	14	54686587	missense	probably damaging	1.00
R4547:Acin1	UTSW	14	54645667	missense	probably benign	0.01
R4621:Acin1	UTSW	14	54653443	unclassified	probably benign
R4657:Acin1	UTSW	14	54643047	missense	possibly damaging	0.93
R4680:Acin1	UTSW	14	54686758	missense	probably benign	0.00
R4696:Acin1	UTSW	14	54643017	intron	probably benign
R4806:Acin1	UTSW	14	54679228	splice site	probably benign
R4826:Acin1	UTSW	14	54664617	missense	probably damaging	0.97
R5096:Acin1	UTSW	14	54679222	intron	probably benign
R5153:Acin1	UTSW	14	54645613	missense	probably benign	0.25
R5223:Acin1	UTSW	14	54642941	frame shift	probably null
R5260:Acin1	UTSW	14	54642822	intron	probably benign
R5525:Acin1	UTSW	14	54664391	missense	possibly damaging	0.94
R5575:Acin1	UTSW	14	54678738	splice site	probably null
R5902:Acin1	UTSW	14	54663673	missense	probably benign	0.01
R6211:Acin1	UTSW	14	54644046	missense	probably damaging	1.00
R6524:Acin1	UTSW	14	54645283	missense	probably damaging	1.00
R6560:Acin1	UTSW	14	54678833	missense	probably benign	0.24
R6916:Acin1	UTSW	14	54665416	missense	probably benign	0.27
R7201:Acin1	UTSW	14	54664899	missense	possibly damaging	0.83
R7833:Acin1	UTSW	14	54664602	missense	possibly damaging	0.83
R8096:Acin1	UTSW	14	54645269	missense	possibly damaging	0.80
R8167:Acin1	UTSW	14	54664880	missense	probably benign	0.01
R8421:Acin1	UTSW	14	54643029	missense	unknown
R8771:Acin1	UTSW	14	54643039	missense	unknown
R8862:Acin1	UTSW	14	54663715	missense	probably benign	0.00
R9645:Acin1	UTSW	14	54664456	missense	probably benign	0.16
R9755:Acin1	UTSW	14	54651835	missense	probably damaging	0.99
X0021:Acin1	UTSW	14	54667101	missense	probably damaging	1.00
Z1177:Acin1	UTSW	14	54642750	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCGTCGCCATTACGCTCTG -3'
(R):5'- GGTGTGAGCTAGTTAGGAACC -3'

Sequencing Primer
(F):5'- TCTCATCCTCAGAGATTCGGGAG -3'
(R):5'- GGAACCTAGACCATCTAACTGTTGG -3'

Posted On

2014-08-25