Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Acin1'

456407

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610036I19Rik, 2610510L13Rik, Acinus

MMRRC Submission

044100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54879618-54924388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54901130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 659 (T659S)

Ref Sequence

ENSEMBL: ENSMUSP00000107109 (fasta)

Gene Model

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

AlphaFold

Q9JIX8

Predicted Effect

probably benign
Transcript: ENSMUST00000022793
AA Change: T699S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: T699S

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: T659S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: T659S

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: T644S

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: T644S

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

0.0714

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	Het

Other mutations in Acin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Acin1	APN	14	54,884,257 (GRCm39)	missense	probably damaging	1.00
IGL01530:Acin1	APN	14	54,881,443 (GRCm39)	missense	probably damaging	1.00
IGL02396:Acin1	APN	14	54,882,256 (GRCm39)	intron	probably benign
IGL02967:Acin1	APN	14	54,880,210 (GRCm39)	missense	possibly damaging	0.80
Protuberant	UTSW	14	54,882,740 (GRCm39)	missense	probably damaging	1.00
R0411:Acin1	UTSW	14	54,884,231 (GRCm39)	missense	probably damaging	1.00
R0723:Acin1	UTSW	14	54,902,908 (GRCm39)	missense	probably damaging	0.98
R0755:Acin1	UTSW	14	54,889,292 (GRCm39)	start codon destroyed	probably null	0.93
R0784:Acin1	UTSW	14	54,890,985 (GRCm39)	unclassified	probably benign
R1600:Acin1	UTSW	14	54,881,174 (GRCm39)	intron	probably benign
R1682:Acin1	UTSW	14	54,901,175 (GRCm39)	missense	probably damaging	1.00
R1721:Acin1	UTSW	14	54,901,995 (GRCm39)	missense	probably benign	0.01
R1756:Acin1	UTSW	14	54,902,661 (GRCm39)	missense	probably benign	0.30
R1867:Acin1	UTSW	14	54,881,718 (GRCm39)	missense	probably damaging	1.00
R1997:Acin1	UTSW	14	54,884,156 (GRCm39)	splice site	probably null
R2067:Acin1	UTSW	14	54,902,711 (GRCm39)	missense	probably damaging	1.00
R3947:Acin1	UTSW	14	54,916,790 (GRCm39)	missense	possibly damaging	0.89
R4374:Acin1	UTSW	14	54,891,351 (GRCm39)	unclassified	probably benign
R4476:Acin1	UTSW	14	54,882,787 (GRCm39)	missense	probably damaging	1.00
R4501:Acin1	UTSW	14	54,924,044 (GRCm39)	missense	probably damaging	1.00
R4547:Acin1	UTSW	14	54,883,124 (GRCm39)	missense	probably benign	0.01
R4621:Acin1	UTSW	14	54,890,900 (GRCm39)	unclassified	probably benign
R4657:Acin1	UTSW	14	54,880,504 (GRCm39)	missense	possibly damaging	0.93
R4680:Acin1	UTSW	14	54,924,215 (GRCm39)	missense	probably benign	0.00
R4696:Acin1	UTSW	14	54,880,474 (GRCm39)	intron	probably benign
R4806:Acin1	UTSW	14	54,916,685 (GRCm39)	splice site	probably benign
R4826:Acin1	UTSW	14	54,902,074 (GRCm39)	missense	probably damaging	0.97
R5096:Acin1	UTSW	14	54,916,679 (GRCm39)	intron	probably benign
R5153:Acin1	UTSW	14	54,883,070 (GRCm39)	missense	probably benign	0.25
R5223:Acin1	UTSW	14	54,880,398 (GRCm39)	frame shift	probably null
R5260:Acin1	UTSW	14	54,880,279 (GRCm39)	intron	probably benign
R5525:Acin1	UTSW	14	54,901,848 (GRCm39)	missense	possibly damaging	0.94
R5575:Acin1	UTSW	14	54,916,195 (GRCm39)	splice site	probably null
R6211:Acin1	UTSW	14	54,881,503 (GRCm39)	missense	probably damaging	1.00
R6524:Acin1	UTSW	14	54,882,740 (GRCm39)	missense	probably damaging	1.00
R6560:Acin1	UTSW	14	54,916,290 (GRCm39)	missense	probably benign	0.24
R6916:Acin1	UTSW	14	54,902,873 (GRCm39)	missense	probably benign	0.27
R7201:Acin1	UTSW	14	54,902,356 (GRCm39)	missense	possibly damaging	0.83
R7833:Acin1	UTSW	14	54,902,059 (GRCm39)	missense	possibly damaging	0.83
R8096:Acin1	UTSW	14	54,882,726 (GRCm39)	missense	possibly damaging	0.80
R8167:Acin1	UTSW	14	54,902,337 (GRCm39)	missense	probably benign	0.01
R8421:Acin1	UTSW	14	54,880,486 (GRCm39)	missense	unknown
R8771:Acin1	UTSW	14	54,880,496 (GRCm39)	missense	unknown
R8862:Acin1	UTSW	14	54,901,172 (GRCm39)	missense	probably benign	0.00
R9645:Acin1	UTSW	14	54,901,913 (GRCm39)	missense	probably benign	0.16
R9755:Acin1	UTSW	14	54,889,292 (GRCm39)	missense	probably damaging	0.99
X0021:Acin1	UTSW	14	54,904,558 (GRCm39)	missense	probably damaging	1.00
Z1177:Acin1	UTSW	14	54,880,207 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGAATTTGATGGTGAAGACACTC -3'
(R):5'- CAGGATCTACTCATACTAATCTTTCCG -3'

Sequencing Primer
(F):5'- TTTGATGGTGAAGACACTCACACAC -3'
(R):5'- GAGATAGCAACACCAGCTA -3'

Posted On

2017-02-15