Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Ino80'

184652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, Inoc1, 4632409L19Rik, 2310079N15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

119203523-119308168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119210554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1327 (N1327D)

Ref Sequence

ENSEMBL: ENSMUSP00000051845 (fasta)

Gene Model

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

AlphaFold

Q6ZPV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049920
AA Change: N1327D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: N1327D

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Ino80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ino80	APN	2	119,287,199 (GRCm39)	missense	possibly damaging	0.83
IGL01404:Ino80	APN	2	119,287,199 (GRCm39)	missense	possibly damaging	0.83
IGL01985:Ino80	APN	2	119,263,802 (GRCm39)	missense	probably damaging	0.99
IGL02187:Ino80	APN	2	119,275,938 (GRCm39)	splice site	probably benign
IGL02726:Ino80	APN	2	119,272,964 (GRCm39)	missense	probably damaging	1.00
Chosen	UTSW	2	119,212,750 (GRCm39)	splice site	probably null
PIT4677001:Ino80	UTSW	2	119,208,026 (GRCm39)	missense	probably benign
R0004:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0004:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0057:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0113:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0114:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0115:Ino80	UTSW	2	119,261,497 (GRCm39)	missense	probably damaging	1.00
R0138:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0189:Ino80	UTSW	2	119,210,160 (GRCm39)	missense	probably benign	0.36
R0363:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0364:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0365:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0481:Ino80	UTSW	2	119,261,497 (GRCm39)	missense	probably damaging	1.00
R0532:Ino80	UTSW	2	119,212,464 (GRCm39)	missense	possibly damaging	0.79
R0580:Ino80	UTSW	2	119,213,962 (GRCm39)	missense	probably damaging	1.00
R0610:Ino80	UTSW	2	119,213,441 (GRCm39)	missense	probably damaging	1.00
R0675:Ino80	UTSW	2	119,213,962 (GRCm39)	missense	probably damaging	1.00
R1275:Ino80	UTSW	2	119,257,536 (GRCm39)	missense	probably benign	0.12
R1470:Ino80	UTSW	2	119,210,130 (GRCm39)	missense	probably damaging	1.00
R1470:Ino80	UTSW	2	119,210,130 (GRCm39)	missense	probably damaging	1.00
R1506:Ino80	UTSW	2	119,255,746 (GRCm39)	nonsense	probably null
R1510:Ino80	UTSW	2	119,280,530 (GRCm39)	missense	probably damaging	1.00
R1570:Ino80	UTSW	2	119,277,509 (GRCm39)	missense	possibly damaging	0.68
R1613:Ino80	UTSW	2	119,223,348 (GRCm39)	missense	probably damaging	1.00
R1673:Ino80	UTSW	2	119,212,417 (GRCm39)	missense	probably damaging	1.00
R1773:Ino80	UTSW	2	119,248,890 (GRCm39)	missense	probably benign	0.18
R1795:Ino80	UTSW	2	119,237,340 (GRCm39)	missense	probably damaging	1.00
R2093:Ino80	UTSW	2	119,257,151 (GRCm39)	missense	possibly damaging	0.55
R2105:Ino80	UTSW	2	119,262,410 (GRCm39)	missense	probably null	1.00
R2113:Ino80	UTSW	2	119,284,565 (GRCm39)	missense	probably damaging	1.00
R3618:Ino80	UTSW	2	119,277,353 (GRCm39)	missense	probably null	0.81
R4572:Ino80	UTSW	2	119,232,839 (GRCm39)	missense	probably damaging	1.00
R4649:Ino80	UTSW	2	119,261,489 (GRCm39)	missense	probably damaging	1.00
R4919:Ino80	UTSW	2	119,273,073 (GRCm39)	missense	probably damaging	1.00
R5113:Ino80	UTSW	2	119,262,426 (GRCm39)	missense	probably damaging	1.00
R5138:Ino80	UTSW	2	119,213,902 (GRCm39)	missense	probably damaging	1.00
R5458:Ino80	UTSW	2	119,242,910 (GRCm39)	missense	possibly damaging	0.50
R5499:Ino80	UTSW	2	119,272,128 (GRCm39)	missense	probably damaging	1.00
R5502:Ino80	UTSW	2	119,232,877 (GRCm39)	missense	probably damaging	1.00
R5531:Ino80	UTSW	2	119,276,056 (GRCm39)	missense	probably benign
R5740:Ino80	UTSW	2	119,261,510 (GRCm39)	missense	probably damaging	1.00
R5892:Ino80	UTSW	2	119,270,028 (GRCm39)	intron	probably benign
R5914:Ino80	UTSW	2	119,288,697 (GRCm39)	missense	probably damaging	0.99
R6000:Ino80	UTSW	2	119,204,989 (GRCm39)	missense	probably benign	0.04
R6263:Ino80	UTSW	2	119,213,895 (GRCm39)	missense	probably damaging	1.00
R6505:Ino80	UTSW	2	119,281,922 (GRCm39)	missense	probably damaging	1.00
R6942:Ino80	UTSW	2	119,213,983 (GRCm39)	missense	probably damaging	0.99
R7052:Ino80	UTSW	2	119,257,068 (GRCm39)	critical splice donor site	probably null
R7100:Ino80	UTSW	2	119,204,994 (GRCm39)	missense	possibly damaging	0.47
R7163:Ino80	UTSW	2	119,223,356 (GRCm39)	missense	probably damaging	1.00
R7187:Ino80	UTSW	2	119,257,072 (GRCm39)	missense	probably benign	0.00
R7202:Ino80	UTSW	2	119,204,918 (GRCm39)	missense	probably benign	0.00
R7218:Ino80	UTSW	2	119,288,608 (GRCm39)	missense	probably benign
R7389:Ino80	UTSW	2	119,273,010 (GRCm39)	missense	probably benign	0.00
R7419:Ino80	UTSW	2	119,210,495 (GRCm39)	missense	probably benign	0.00
R7437:Ino80	UTSW	2	119,273,067 (GRCm39)	missense	possibly damaging	0.86
R7607:Ino80	UTSW	2	119,212,750 (GRCm39)	splice site	probably null
R7702:Ino80	UTSW	2	119,273,054 (GRCm39)	missense	probably benign	0.01
R7975:Ino80	UTSW	2	119,286,948 (GRCm39)	splice site	probably null
R7978:Ino80	UTSW	2	119,269,874 (GRCm39)	missense	possibly damaging	0.93
R8376:Ino80	UTSW	2	119,272,968 (GRCm39)	missense	probably benign	0.14
R8469:Ino80	UTSW	2	119,210,074 (GRCm39)	missense	probably benign
R8720:Ino80	UTSW	2	119,232,868 (GRCm39)	missense	probably damaging	1.00
R8751:Ino80	UTSW	2	119,237,389 (GRCm39)	missense	probably benign
R8958:Ino80	UTSW	2	119,213,862 (GRCm39)	missense	probably damaging	1.00
R8992:Ino80	UTSW	2	119,210,059 (GRCm39)	missense	possibly damaging	0.93
R9319:Ino80	UTSW	2	119,205,005 (GRCm39)	missense	probably benign	0.13
R9346:Ino80	UTSW	2	119,257,439 (GRCm39)	missense	possibly damaging	0.54
R9370:Ino80	UTSW	2	119,232,848 (GRCm39)	missense	probably damaging	1.00
R9621:Ino80	UTSW	2	119,280,496 (GRCm39)	missense	probably damaging	0.98
R9641:Ino80	UTSW	2	119,275,965 (GRCm39)	missense	probably benign	0.08
R9650:Ino80	UTSW	2	119,277,464 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07