Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Acin1'

402455

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610510L13Rik, Acinus, 2610036I19Rik

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5223 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

54642161-54686931 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCGC to CC at 54642941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000123875] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000148754] [ENSMUST00000150371] [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: 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 benign
Transcript: ENSMUST00000067784

SMART Domains

Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	148	7.85e-18	SMART
CA	172	257	3.23e-28	SMART
CA	281	369	4.24e-14	SMART
CA	396	477	1.48e-22	SMART
Blast:CA	500	581	3e-31	BLAST
transmembrane domain	602	624	N/A	INTRINSIC
Pfam:Cadherin_C	627	775	2e-48	PFAM

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 benign
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

noncoding transcript
Transcript: ENSMUST00000133706

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000151487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152773

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: ENSMUST00000170299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167495

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	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
R1997:Acin1	UTSW	14	54646699	splice site	probably null
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
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'- TACAGGTGTGCTTCGACTCC -3'
(R):5'- CTGTTAATAGAAACTGACAGTGACCC -3'

Sequencing Primer
(F):5'- GACTCCGGCTTCTGCTGTG -3'
(R):5'- AAGCACAGCCTGGGATCAGTTC -3'

Posted On

2016-07-22