Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Acin1'

226790

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610036I19Rik, 2610510L13Rik, Acinus

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R2067 (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 54902711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 360 (Q360H)

Ref Sequence

ENSEMBL: ENSMUSP00000022793 (fasta)

Gene Model

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

AlphaFold

Q9JIX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022793
AA Change: Q360H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: Q360H

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 damaging
Transcript: ENSMUST00000111484
AA Change: Q320H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: Q320H

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

possibly damaging
Transcript: ENSMUST00000125265
AA Change: Q214H

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185
AA Change: Q214H

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

probably benign
Transcript: ENSMUST00000147714
AA Change: Q305H

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

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: Q305H

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Aldh3b1	T	A	19: 3,971,755 (GRCm39)	D72V	probably benign	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Alpl	T	C	4: 137,476,856 (GRCm39)		probably benign	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bod1l	G	A	5: 41,974,429 (GRCm39)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,012,475 (GRCm39)		probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Csmd1	A	G	8: 15,950,782 (GRCm39)	S3476P	probably benign	Het
Ddias	A	T	7: 92,508,907 (GRCm39)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Espl1	T	C	15: 102,207,525 (GRCm39)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Gc	T	A	5: 89,594,376 (GRCm39)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,034,736 (GRCm39)	I178T	probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt4	C	A	15: 101,833,099 (GRCm39)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm39)		probably benign	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,541,347 (GRCm39)	N43D	probably benign	Het
Napa	A	T	7: 15,849,203 (GRCm39)		probably benign	Het
Ndufa12	A	G	10: 94,056,569 (GRCm39)	D99G	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	C	8: 61,460,196 (GRCm39)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,072,046 (GRCm39)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,403,926 (GRCm39)	Y301D	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Osmr	T	C	15: 6,844,896 (GRCm39)	N957D	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,027,349 (GRCm39)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,274,926 (GRCm39)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Ripor1	T	A	8: 106,344,340 (GRCm39)	S491R	probably benign	Het
Rnf141	A	G	7: 110,420,572 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,777,302 (GRCm39)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,598,465 (GRCm39)	N125S	probably benign	Het
Schip1	A	G	3: 68,525,119 (GRCm39)	K360R	probably damaging	Het
Senp6	T	A	9: 79,997,151 (GRCm39)	V55E	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,768,530 (GRCm39)	H130Q	probably benign	Het
Styx	T	C	14: 45,611,020 (GRCm39)	V217A	probably benign	Het
Syne2	G	A	12: 75,935,116 (GRCm39)		probably null	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,416,385 (GRCm39)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,801,673 (GRCm39)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,639,647 (GRCm39)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,719,541 (GRCm39)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 88,988,692 (GRCm39)	E803G	probably benign	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,149,412 (GRCm39)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,368,264 (GRCm39)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,552,935 (GRCm39)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	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
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
R5902:Acin1	UTSW	14	54,901,130 (GRCm39)	missense	probably benign	0.01
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'- TGACGCTTCCTTGGTAAGTAAAG -3'
(R):5'- ATCTAGAGAGGCTGAGGCAC -3'

Sequencing Primer
(F):5'- CTTCCTTGGTAAGTAAAGGTGGG -3'
(R):5'- CCAACCCTGAAGCAGTTTGAGG -3'

Posted On

2014-09-17