Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Ino80'

573297

Institutional Source

Beutler Lab

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, Inoc1, 4632409L19Rik, 2310079N15Rik

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119203523-119308168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119273010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 489 (S489A)

Ref Sequence

ENSEMBL: ENSMUSP00000106431 (fasta)

Gene Model

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

AlphaFold

Q6ZPV2

Predicted Effect

probably benign
Transcript: ENSMUST00000049920
AA Change: S489A

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

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: S489A

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: S489A

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

SMART Domains

Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: S489A

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

Meta Mutation Damage Score

0.0574

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	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
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
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'- CTTTCTGACTCTAACATGATAGTGAAG -3'
(R):5'- ATTAGTGAGCAACATAGCTTAGTATGG -3'

Sequencing Primer
(F):5'- AACTCCGGTTCTAGGAATCTGATGC -3'
(R):5'- GTTACATTAACTCAGTAAG -3'

Posted On

2019-09-13