Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01402:Ino80'

278348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, 2310079N15Rik, 4632409L19Rik, Inoc1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL01402

Quality Score

Status

Chromosome

Chromosomal Location

119373042-119477687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119456718 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 56 (D56V)

Ref Sequence

ENSEMBL: ENSMUSP00000051845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049920] [ENSMUST00000110808]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049920
AA Change: D56V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: D56V

Domain	Start	End	E-Value	Type
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	206	242	N/A	INTRINSIC
Pfam:DBINO	275	407	6.6e-50	PFAM
low complexity region	474	489	N/A	INTRINSIC
DEXDc	516	714	6.27e-37	SMART
low complexity region	907	923	N/A	INTRINSIC
HELICc	1134	1217	2.86e-22	SMART
low complexity region	1270	1324	N/A	INTRINSIC
low complexity region	1357	1368	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1438	1450	N/A	INTRINSIC
low complexity region	1457	1483	N/A	INTRINSIC
low complexity region	1510	1521	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110808
AA Change: D56V

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: D56V

Domain	Start	End	E-Value	Type
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	206	242	N/A	INTRINSIC
Pfam:DBINO	272	412	8.8e-55	PFAM
low complexity region	474	489	N/A	INTRINSIC
DEXDc	516	714	6.27e-37	SMART
low complexity region	907	923	N/A	INTRINSIC
PDB:3MWY\|W	1098	1136	6e-7	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele die around E7.5 and show absence of anterior and distal visceral endoderm. Another null allele results in embryonic lethality by E13.5-E14.5 with severe growth retardation and developmental defects. Heterozygotes show defects in hindlimb extension reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,653	S351P	possibly damaging	Het
Abca2	T	C	2: 25,442,003	S1376P	probably damaging	Het
Ablim3	A	G	18: 61,871,683	Y12H	probably damaging	Het
Akr1b7	A	G	6: 34,421,117	R294G	possibly damaging	Het
Aldh3b1	A	C	19: 3,921,205	V153G	probably benign	Het
Alk	A	T	17: 71,874,178	H1372Q	probably damaging	Het
Ano9	A	C	7: 141,102,042	Y731*	probably null	Het
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Asl	T	C	5: 130,019,804	E43G	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cfap43	T	C	19: 47,795,666	D476G	probably benign	Het
Cpa1	A	G	6: 30,645,276	H417R	possibly damaging	Het
Cpeb3	T	C	19: 37,088,548	D407G	probably benign	Het
Dcaf15	A	T	8: 84,098,397	C469S	probably damaging	Het
Dpy19l4	C	A	4: 11,273,006		probably null	Het
E4f1	A	T	17: 24,444,234	L699Q	probably damaging	Het
Eif4g2	A	G	7: 111,077,027	F349S	possibly damaging	Het
Ermap	T	C	4: 119,187,158	Y147C	probably damaging	Het
Frk	A	C	10: 34,547,385	E153A	probably damaging	Het
Fubp3	G	A	2: 31,604,721		probably null	Het
Gdi2	A	G	13: 3,564,611	T319A	probably benign	Het
Gjc3	A	G	5: 137,957,858	F55S	probably damaging	Het
Gm10762	C	T	2: 128,967,085		probably benign	Het
Got1	A	G	19: 43,504,609	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,338,186	G1048*	probably null	Het
Hectd3	G	T	4: 116,996,065	R163L	probably damaging	Het
Hectd4	T	C	5: 121,339,417		probably benign	Het
Ifnb1	T	C	4: 88,522,243	R178G	probably benign	Het
Kctd1	T	A	18: 14,969,553	Q857L	probably damaging	Het
Kdm5a	T	A	6: 120,390,679	L445*	probably null	Het
Lins1	G	A	7: 66,713,928	V524I	probably damaging	Het
Lrp1	A	T	10: 127,595,032	Y383N	probably damaging	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mgam	A	C	6: 40,644,945	K84Q	probably benign	Het
Mlh3	A	T	12: 85,267,929	F494L	probably benign	Het
Mpped1	T	C	15: 83,792,213	F60S	possibly damaging	Het
Myo1e	A	G	9: 70,337,766	Y382C	probably benign	Het
Ncor1	C	A	11: 62,340,474	V836F	probably damaging	Het
Nktr	G	A	9: 121,741,152		probably null	Het
Olfr120	A	G	17: 37,726,302	T93A	probably benign	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr984	A	G	9: 40,101,262	I76T	probably benign	Het
Rnf144a	T	A	12: 26,327,301	Y93F	probably benign	Het
Rubcn	G	A	16: 32,827,296	T636M	probably damaging	Het
Scn5a	A	C	9: 119,486,470	L1724R	probably damaging	Het
Sel1l	A	G	12: 91,841,833	S45P	possibly damaging	Het
Serpina3k	A	G	12: 104,340,623	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,206,490	K18N	probably damaging	Het
Slc28a2	T	G	2: 122,452,057	I287M	probably damaging	Het
St8sia6	T	C	2: 13,665,507	N214S	probably damaging	Het
Syt11	A	G	3: 88,762,216	I123T	probably benign	Het
Tcerg1l	A	T	7: 138,259,839	I387N	probably damaging	Het
Tfg	C	A	16: 56,694,493		probably benign	Het
Tgm4	A	G	9: 123,051,454	K307E	possibly damaging	Het
Tmem177	T	C	1: 119,910,061	D296G	probably damaging	Het
Tmem270	C	T	5: 134,901,909		probably benign	Het
Tnrc6b	G	T	15: 80,880,544	G749V	possibly damaging	Het
Trp63	C	A	16: 25,820,385		probably benign	Het
Ugt1a8	T	C	1: 88,087,895	L10P	probably benign	Het
Vmn2r107	A	T	17: 20,375,747	K854M	probably damaging	Het
Vmn2r45	T	C	7: 8,481,468	N446S	probably damaging	Het
Vps13c	A	T	9: 67,913,204		probably null	Het
Wdr91	G	A	6: 34,889,063	P518L	probably benign	Het
Yap1	G	A	9: 7,934,741		probably benign	Het
Zfp282	A	C	6: 47,897,836	D325A	probably damaging	Het

Other mutations in Ino80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Ino80	APN	2	119456718	missense	possibly damaging	0.83
IGL01985:Ino80	APN	2	119433321	missense	probably damaging	0.99
IGL02039:Ino80	APN	2	119380073	missense	probably damaging	1.00
IGL02187:Ino80	APN	2	119445457	splice site	probably benign
IGL02726:Ino80	APN	2	119442483	missense	probably damaging	1.00
PIT4677001:Ino80	UTSW	2	119377545	missense	probably benign
R0004:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0004:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0057:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0113:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0114:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0115:Ino80	UTSW	2	119431016	missense	probably damaging	1.00
R0138:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0189:Ino80	UTSW	2	119379679	missense	probably benign	0.36
R0363:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0364:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0365:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0481:Ino80	UTSW	2	119431016	missense	probably damaging	1.00
R0532:Ino80	UTSW	2	119381983	missense	possibly damaging	0.79
R0580:Ino80	UTSW	2	119383481	missense	probably damaging	1.00
R0610:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0675:Ino80	UTSW	2	119383481	missense	probably damaging	1.00
R1275:Ino80	UTSW	2	119427055	missense	probably benign	0.12
R1470:Ino80	UTSW	2	119379649	missense	probably damaging	1.00
R1470:Ino80	UTSW	2	119379649	missense	probably damaging	1.00
R1506:Ino80	UTSW	2	119425265	nonsense	probably null
R1510:Ino80	UTSW	2	119450049	missense	probably damaging	1.00
R1570:Ino80	UTSW	2	119447028	missense	possibly damaging	0.68
R1613:Ino80	UTSW	2	119392867	missense	probably damaging	1.00
R1673:Ino80	UTSW	2	119381936	missense	probably damaging	1.00
R1773:Ino80	UTSW	2	119418409	missense	probably benign	0.18
R1795:Ino80	UTSW	2	119406859	missense	probably damaging	1.00
R2093:Ino80	UTSW	2	119426670	missense	possibly damaging	0.55
R2105:Ino80	UTSW	2	119431929	missense	probably null	1.00
R2113:Ino80	UTSW	2	119454084	missense	probably damaging	1.00
R3618:Ino80	UTSW	2	119446872	missense	probably null	0.81
R4572:Ino80	UTSW	2	119402358	missense	probably damaging	1.00
R4649:Ino80	UTSW	2	119431008	missense	probably damaging	1.00
R4919:Ino80	UTSW	2	119442592	missense	probably damaging	1.00
R5113:Ino80	UTSW	2	119431945	missense	probably damaging	1.00
R5138:Ino80	UTSW	2	119383421	missense	probably damaging	1.00
R5458:Ino80	UTSW	2	119412429	missense	possibly damaging	0.50
R5499:Ino80	UTSW	2	119441647	missense	probably damaging	1.00
R5502:Ino80	UTSW	2	119402396	missense	probably damaging	1.00
R5531:Ino80	UTSW	2	119445575	missense	probably benign
R5740:Ino80	UTSW	2	119431029	missense	probably damaging	1.00
R5892:Ino80	UTSW	2	119439547	intron	probably benign
R5914:Ino80	UTSW	2	119458216	missense	probably damaging	0.99
R6000:Ino80	UTSW	2	119374508	missense	probably benign	0.04
R6263:Ino80	UTSW	2	119383414	missense	probably damaging	1.00
R6505:Ino80	UTSW	2	119451441	missense	probably damaging	1.00
R6942:Ino80	UTSW	2	119383502	missense	probably damaging	0.99
R7052:Ino80	UTSW	2	119426587	critical splice donor site	probably null
R7100:Ino80	UTSW	2	119374513	missense	possibly damaging	0.47
R7163:Ino80	UTSW	2	119392875	missense	probably damaging	1.00
R7187:Ino80	UTSW	2	119426591	missense	probably benign	0.00
R7202:Ino80	UTSW	2	119374437	missense	probably benign	0.00
R7218:Ino80	UTSW	2	119458127	missense	probably benign
R7389:Ino80	UTSW	2	119442529	missense	probably benign	0.00
R7419:Ino80	UTSW	2	119380014	missense	probably benign	0.00
R7437:Ino80	UTSW	2	119442586	missense	possibly damaging	0.86
R7702:Ino80	UTSW	2	119442573	missense	probably benign	0.01

Posted On

2015-04-16