Mutagenetix > Incidental Mutation

Incidental Mutation 'R8469:Ino80'

656939

Institutional Source

Beutler Lab

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, Inoc1, 4632409L19Rik, 2310079N15Rik

MMRRC Submission

067913-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119203523-119308168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119210074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1406 (I1406L)

Ref Sequence

ENSEMBL: ENSMUSP00000051845 (fasta)

Gene Model

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

AlphaFold

Q6ZPV2

Predicted Effect

probably benign
Transcript: ENSMUST00000049920
AA Change: I1406L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: I1406L

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

Meta Mutation Damage Score

0.0670

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (41/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,797 (GRCm39)	F113S	probably damaging	Het
Abcd4	A	G	12: 84,659,190 (GRCm39)	Y189H	probably damaging	Het
Actn1	T	C	12: 80,240,457 (GRCm39)	D210G	possibly damaging	Het
Adam28	C	T	14: 68,844,029 (GRCm39)	V774I	probably benign	Het
Anapc1	A	T	2: 128,500,264 (GRCm39)		probably null	Het
Atg2b	A	T	12: 105,604,170 (GRCm39)	I1577N	probably benign	Het
Bod1l	A	G	5: 41,978,834 (GRCm39)	S827P	possibly damaging	Het
Carmil1	A	T	13: 24,296,011 (GRCm39)	C377S	probably damaging	Het
Cplx4	T	C	18: 66,090,083 (GRCm39)	E112G	possibly damaging	Het
Cyp4f39	C	A	17: 32,711,340 (GRCm39)	R496S	probably damaging	Het
Dmgdh	G	A	13: 93,843,175 (GRCm39)	R337Q	probably damaging	Het
Dnah10	T	C	5: 124,813,895 (GRCm39)	F345S	probably damaging	Het
Dst	A	G	1: 34,268,109 (GRCm39)	R2844G	probably damaging	Het
Fam186a	T	A	15: 99,845,186 (GRCm39)	I353L	unknown	Het
Fam78a	A	G	2: 31,959,345 (GRCm39)	V255A	possibly damaging	Het
Itga11	T	C	9: 62,678,680 (GRCm39)	F949S	probably benign	Het
Jmjd7	G	A	2: 119,860,643 (GRCm39)	A57T	possibly damaging	Het
Krt1c	T	C	15: 101,724,804 (GRCm39)	T269A	probably benign	Het
Lgi4	A	T	7: 30,767,065 (GRCm39)	D364V	probably damaging	Het
Lrp12	T	C	15: 39,735,791 (GRCm39)	T733A	probably damaging	Het
Marchf7	T	A	2: 60,064,670 (GRCm39)	N315K	probably benign	Het
Methig1	A	G	15: 100,251,130 (GRCm39)	I14V	probably benign	Het
Mtmr3	A	T	11: 4,481,223 (GRCm39)	M1K	probably null	Het
Nras	A	G	3: 102,966,217 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,425,366 (GRCm39)	T1508A	possibly damaging	Het
Obscn	T	C	11: 59,019,063 (GRCm39)	T917A	probably damaging	Het
Pard6g	T	C	18: 80,090,347 (GRCm39)	V21A	possibly damaging	Het
Pcdha5	T	A	18: 37,094,798 (GRCm39)	W436R	probably benign	Het
Pde4d	T	C	13: 108,996,722 (GRCm39)	V8A	probably benign	Het
Pou4f3	C	T	18: 42,528,339 (GRCm39)	T94M	probably benign	Het
Prdm6	G	T	18: 53,597,758 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,198 (GRCm39)	R674G	probably damaging	Het
Rcc1	A	G	4: 132,061,445 (GRCm39)	S368P	probably damaging	Het
Rcn2	T	A	9: 55,952,485 (GRCm39)	V110E	probably benign	Het
Reep4	T	A	14: 70,783,180 (GRCm39)		probably null	Het
Rrbp1	T	C	2: 143,831,661 (GRCm39)	I169V	probably damaging	Het
Slc2a6	T	C	2: 26,914,347 (GRCm39)	S257G	probably benign	Het
Spag9	A	G	11: 93,982,627 (GRCm39)	R612G	probably damaging	Het
Ssh2	A	G	11: 77,340,434 (GRCm39)	T529A	probably benign	Het
Triobp	A	G	15: 78,851,219 (GRCm39)	S458G	probably benign	Het
Zfp729a	G	T	13: 67,769,481 (GRCm39)	H249Q	probably damaging	Het
Zfp940	A	G	7: 29,544,572 (GRCm39)	I445T	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
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
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'- AGTTCTTATTTTGCTTCTCCTAAACA -3'
(R):5'- GCTGTAGCCATTGAAGTTATTAGT -3'

Sequencing Primer
(F):5'- AGCACTATGTGAGAGACCCTGTC -3'
(R):5'- AGTTATTAGTAAGCTCAGCCCTTCTG -3'

Posted On

2021-01-18