Mutagenetix > Incidental Mutation

Incidental Mutation 'R1275:Ino80'

150856

Institutional Source

Beutler Lab

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, Inoc1, 4632409L19Rik, 2310079N15Rik

MMRRC Submission

039341-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1275 (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 119257536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 765 (T765A)

Ref Sequence

ENSEMBL: ENSMUSP00000051845 (fasta)

Gene Model

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

AlphaFold

Q6ZPV2

Predicted Effect

probably benign
Transcript: ENSMUST00000049920
AA Change: T765A

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: T765A

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

probably benign
Transcript: ENSMUST00000110808
AA Change: T765A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: T765A

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

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdhr18	T	C	14: 13,896,949 (GRCm38)	Y142C	probably damaging	Het
Clstn2	C	T	9: 97,339,483 (GRCm39)	V793I	probably benign	Het
Coro1a	C	T	7: 126,299,755 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efcab14	T	G	4: 115,613,670 (GRCm39)	L206R	probably damaging	Het
Ehmt1	A	G	2: 24,777,007 (GRCm39)		probably null	Het
Fosl2	C	T	5: 32,307,798 (GRCm39)	R130W	probably damaging	Het
Gfral	A	G	9: 76,104,314 (GRCm39)	C233R	probably damaging	Het
Mindy3	A	T	2: 12,400,984 (GRCm39)		probably null	Het
Myo15b	CGGAGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAGGAG	11: 115,774,318 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,099 (GRCm39)	E315G	probably benign	Het
Osbpl11	T	A	16: 33,006,220 (GRCm39)	M16K	probably benign	Het
Rassf7	T	A	7: 140,797,060 (GRCm39)	L91Q	probably damaging	Het
Shld1	T	C	2: 132,534,015 (GRCm39)	S48P	probably benign	Het
Unc13b	A	G	4: 43,235,366 (GRCm39)	K3318R	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp930	A	G	8: 69,680,631 (GRCm39)	K108E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCTCCGTGAAGCAGGTCAATAAAA -3'
(R):5'- TGGCACTTGAAATATGGATGTGGCAAT -3'

Sequencing Primer
(F):5'- CGTGAAGCAGGTCAATAAAAACATC -3'
(R):5'- tgtttggttggtttttttttgtttg -3'

Posted On

2014-01-29