Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Acin1'

194894

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610510L13Rik, Acinus, 2610036I19Rik

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54642161-54686931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54665204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 377 (V377A)

Ref Sequence

ENSEMBL: ENSMUSP00000022793 (fasta)

Gene Model

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

AlphaFold

Q9JIX8

Predicted Effect

probably benign
Transcript: ENSMUST00000022793
AA Change: V377A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: V377A

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 benign
Transcript: ENSMUST00000111484
AA Change: V337A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: V337A

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
AA Change: V231A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185
AA Change: V231A

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: V322A

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: V322A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882		noncoding transcript	Het
Adam39	A	T	8: 40,825,324	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013	I53R	probably benign	Het
Ccdc105	T	A	10: 78,747,197	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380	S344A	probably benign	Het
Dner	C	T	1: 84,445,590	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695		probably null	Het
Eps15	T	G	4: 109,312,918	L139*	probably null	Het
Fam193a	T	A	5: 34,466,292	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239		probably benign	Het
Gpr155	T	C	2: 73,367,577	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123		probably benign	Het
Heatr1	G	T	13: 12,396,460	A61S	probably benign	Het
Helb	G	T	10: 120,094,242	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621	K97N	unknown	Het
Lcor	T	C	19: 41,559,266	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730		probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1008	A	G	2: 85,690,083	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392		probably null	Het
Plek	A	T	11: 16,992,901	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763		probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552	M574I	probably benign	Het
Slk	T	C	19: 47,622,677	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113		probably null	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725		probably null	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334		probably benign	Het
Unc80	A	G	1: 66,639,248	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424	T205A	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
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
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'- TCCAGCATCTGTGTTAGGAGGAGAC -3'
(R):5'- GGTGGTGGATGAGAAACCCCTAAAC -3'

Sequencing Primer
(F):5'- CATCTGTGTTAGGAGGAGACAACTG -3'
(R):5'- TGGATGAGAAACCCCTAAACATCAG -3'

Posted On

2014-05-23