Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Acin1'

401397

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610510L13Rik, Acinus, 2610036I19Rik

MMRRC Submission

042829-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54642161-54686931 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 54642822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000123875] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000150371] [ENSMUST00000167015] [ENSMUST00000148754] [ENSMUST00000169818]

AlphaFold

Q9JIX8

Predicted Effect

unknown
Transcript: ENSMUST00000022793
AA Change: D1308G

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: D1308G

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

unknown
Transcript: ENSMUST00000022794
AA Change: D550G

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
AA Change: D550G

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

unknown
Transcript: ENSMUST00000111484
AA Change: D1268G

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: D1268G

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

unknown
Transcript: ENSMUST00000126166
AA Change: D535G

SMART Domains

Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
AA Change: D535G

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

unknown
Transcript: ENSMUST00000141453
AA Change: D522G

SMART Domains

Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
AA Change: D522G

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

unknown
Transcript: ENSMUST00000147714
AA Change: D1241G

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: D1241G

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

unknown
Transcript: ENSMUST00000150371
AA Change: D604G

SMART Domains

Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
AA Change: D604G

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

unknown
Transcript: ENSMUST00000167015
AA Change: D551G

SMART Domains

Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
AA Change: D551G

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

unknown
Transcript: ENSMUST00000148754
AA Change: D551G

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
AA Change: D551G

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: ENSMUST00000196776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151487

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

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	probably 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
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
R5223:Acin1	UTSW	14	54642941	frame shift	probably null
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'- GTGGTGGTGACTGTACCTATCC -3'
(R):5'- ACTGTGACACACTTCTCTGC -3'

Sequencing Primer
(F):5'- GTGACTGTACCTATCCCTCTGTGG -3'
(R):5'- TCTGACCACAGATTGTTCAGAAGG -3'

Posted On

2016-07-06