Mutagenetix > Incidental Mutation

Incidental Mutation 'R5525:Acin1'

431824

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610510L13Rik, Acinus, 2610036I19Rik

MMRRC Submission

043083-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54642161-54686931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54664391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 648 (A648V)

Ref Sequence

ENSEMBL: ENSMUSP00000022793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000111484] [ENSMUST00000125265]

AlphaFold

Q9JIX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022793
AA Change: A648V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: A648V

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

possibly damaging
Transcript: ENSMUST00000111484
AA Change: A608V

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: A608V

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: ENSMUST00000125265

SMART Domains

Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
Blast:BRLZ	1	27	3e-9	BLAST
coiled coil region	32	66	N/A	INTRINSIC
coiled coil region	113	154	N/A	INTRINSIC
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141993

Predicted Effect

unknown
Transcript: ENSMUST00000147714
AA Change: A593V

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: A593V

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,099,983	T1501A	probably benign	Het
Agap1	A	G	1: 89,743,773	T401A	possibly damaging	Het
Anapc4	T	G	5: 52,856,809	M440R	probably damaging	Het
Ankrd26	A	G	6: 118,527,731	M739T	probably benign	Het
Brip1	T	C	11: 86,110,447	E721G	possibly damaging	Het
Bzw1	A	G	1: 58,402,906	E221G	possibly damaging	Het
Cenpm	A	C	15: 82,239,291		probably null	Het
Exosc1	T	A	19: 41,924,018	K143N	probably damaging	Het
Fgd5	T	A	6: 92,066,247	L1236Q	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Grm3	C	T	5: 9,504,872	V807I	probably damaging	Het
Kndc1	A	G	7: 139,924,111	N1110S	probably benign	Het
Magi1	A	T	6: 93,792,373	V17D	possibly damaging	Het
Mdn1	T	G	4: 32,767,961	M5298R	possibly damaging	Het
Nlrp9c	T	A	7: 26,384,501	E551V	probably damaging	Het
Oacyl	A	C	18: 65,745,356	I457L	probably benign	Het
Olfr103	C	T	17: 37,336,626	G202D	probably damaging	Het
Olfr1102	A	T	2: 87,002,339	E123D	possibly damaging	Het
Olfr494	A	G	7: 108,367,999	I170V	probably benign	Het
Rab11fip3	T	C	17: 25,991,295	E996G	probably damaging	Het
Rabep1	T	A	11: 70,923,146	S554T	probably damaging	Het
Rln1	T	C	19: 29,334,520	E26G	probably benign	Het
Rpf1	A	G	3: 146,517,804		silent	Het
Sdk1	T	C	5: 142,185,265	V1961A	possibly damaging	Het
Serpinb8	A	T	1: 107,607,293	I365F	probably damaging	Het
Shank2	A	G	7: 144,070,109	D277G	probably damaging	Het
Snapc4	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	2: 26,369,526		probably benign	Het
Thsd7a	T	C	6: 12,332,007	T1269A	possibly damaging	Het
Ttll3	A	G	6: 113,412,978	N776D	probably benign	Het
Unc80	A	G	1: 66,606,614	E1483G	possibly damaging	Het
Ush2a	A	G	1: 188,753,606	D2971G	probably benign	Het
Zfp322a	A	G	13: 23,357,515	V19A	probably benign	Het
Zfp462	C	A	4: 55,050,281	P2164T	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
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
R5260:Acin1	UTSW	14	54642822	intron	probably benign
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'- TTGCAATCAAAGGGGTTCAGAAC -3'
(R):5'- ACTCATCCTCTAGCAGGTCC -3'

Sequencing Primer
(F):5'- TTCAGAACGGGCAGGGACC -3'
(R):5'- AGCTCTCCATCCAGATCTCCATC -3'

Posted On

2016-10-05