Mutagenetix > Incidental Mutation

Incidental Mutation 'R5740:Ino80'

444734

Institutional Source

Beutler Lab

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, Inoc1, 4632409L19Rik, 2310079N15Rik

MMRRC Submission

043196-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5740 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119203523-119308168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119261510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 718 (D718G)

Ref Sequence

ENSEMBL: ENSMUSP00000051845 (fasta)

Gene Model

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

AlphaFold

Q6ZPV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049920
AA Change: D718G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: D718G

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: D718G

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: D718G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138707

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,614,413 (GRCm39)		probably benign	Het
Arrdc5	T	A	17: 56,604,838 (GRCm39)	N150Y	probably benign	Het
Bag1	T	C	4: 40,941,526 (GRCm39)	Q269R	probably null	Het
C7	T	C	15: 5,086,522 (GRCm39)	N40D	probably benign	Het
Ccnt1	T	C	15: 98,442,381 (GRCm39)	I296V	probably benign	Het
Col19a1	C	T	1: 24,376,996 (GRCm39)	G450S	probably damaging	Het
F13a1	T	C	13: 37,082,178 (GRCm39)	T509A	probably benign	Het
Fgg	A	T	3: 82,918,832 (GRCm39)	T282S	probably benign	Het
Fzd7	A	G	1: 59,522,839 (GRCm39)	M241V	probably benign	Het
Gja1	G	A	10: 56,264,285 (GRCm39)	V215M	probably damaging	Het
Golgb1	T	C	16: 36,739,362 (GRCm39)	L2567P	probably damaging	Het
Grik2	T	C	10: 48,989,573 (GRCm39)	N819D	probably damaging	Het
Grik4	C	T	9: 42,719,863 (GRCm39)	R3H	possibly damaging	Het
Hecw2	T	C	1: 53,926,762 (GRCm39)	Y1079C	probably benign	Het
Hivep3	A	G	4: 119,953,220 (GRCm39)	E512G	possibly damaging	Het
Ints10	G	A	8: 69,257,574 (GRCm39)	R258K	probably damaging	Het
Jak2	A	G	19: 29,239,824 (GRCm39)	K73E	possibly damaging	Het
Lrba	A	G	3: 86,235,649 (GRCm39)	I918V	probably damaging	Het
M1ap	T	C	6: 82,958,903 (GRCm39)	V178A	probably damaging	Het
Mcub	A	T	3: 129,712,374 (GRCm39)	M167K	probably benign	Het
Mgat4c	A	T	10: 102,225,182 (GRCm39)	K465N	possibly damaging	Het
Naip1	T	A	13: 100,569,009 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,944,323 (GRCm39)	N108K	possibly damaging	Het
Npepps	A	T	11: 97,126,894 (GRCm39)	D455E	possibly damaging	Het
Or5b101	T	C	19: 13,004,926 (GRCm39)	M256V	probably benign	Het
Pan2	G	A	10: 128,144,033 (GRCm39)	G128S	probably damaging	Het
Ppp3cb	A	T	14: 20,551,664 (GRCm39)	I489N	possibly damaging	Het
Sdccag8	A	G	1: 176,658,716 (GRCm39)	T134A	probably benign	Het
Sh3tc1	T	C	5: 35,864,399 (GRCm39)	E596G	probably benign	Het
Shank1	T	C	7: 44,003,164 (GRCm39)	S1619P	possibly damaging	Het
Slc46a3	A	T	5: 147,816,643 (GRCm39)	C387*	probably null	Het
Slc5a5	G	T	8: 71,341,561 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,721,718 (GRCm39)		probably benign	Het
Vangl1	T	C	3: 102,091,450 (GRCm39)	D212G	probably damaging	Het
Vmn1r52	T	A	6: 90,156,176 (GRCm39)	I160N	probably benign	Het
Vmn2r118	C	T	17: 55,900,103 (GRCm39)	M600I	probably benign	Het
Vmn2r7	T	C	3: 64,614,654 (GRCm39)	I387V	probably benign	Het
Zfp369	A	G	13: 65,444,581 (GRCm39)	R575G	probably benign	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
IGL02039:Ino80	APN	2	119,210,554 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTTTACCCTTAACTCTTGTAGG -3'
(R):5'- CACTGAGCAAGATTGTGTTTGG -3'

Sequencing Primer
(F):5'- CCAGCACTTGGGAAATTGAACCTG -3'
(R):5'- TGGCACCATATCTGTTTCA -3'

Posted On

2016-11-21