Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Ino80'

20698

Institutional Source

Beutler Lab

Gene Symbol

Ino80

Ensembl Gene

ENSMUSG00000034154

Gene Name

INO80 complex subunit

Synonyms

INO80, 2310079N15Rik, 4632409L19Rik, Inoc1

MMRRC Submission

038401-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0115 (G1)

Quality Score

158

Status

Validated (trace)

Chromosome

Chromosomal Location

119373042-119477687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119431016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 722 (H722Q)

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: H722Q

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

SMART Domains

Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: H722Q

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: H722Q

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: H722Q

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

Meta Mutation Damage Score

0.2763

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,594,142		probably benign	Het
2310007B03Rik	A	T	1: 93,159,725	S135R	possibly damaging	Het
4921528I07Rik	A	G	9: 114,279,384		noncoding transcript	Het
Alas1	A	T	9: 106,238,252		probably null	Het
Arf5	A	G	6: 28,426,076	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,838,972	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,407,948	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,309,234	L118P	probably damaging	Het
Bdp1	A	G	13: 100,041,454	I1969T	probably benign	Het
Bysl	C	T	17: 47,610,942	R77Q	probably benign	Het
Cap1	A	T	4: 122,863,075	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,322,756	I187M	possibly damaging	Het
Cdk13	C	A	13: 17,719,494	A1123S	probably damaging	Het
Ces5a	A	T	8: 93,502,183	M473K	probably damaging	Het
Chd8	A	G	14: 52,237,206	S123P	probably benign	Het
Cwc22	G	A	2: 77,908,111	A497V	probably damaging	Het
Cwh43	T	C	5: 73,418,027	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,092,393		probably benign	Het
Dlg1	C	A	16: 31,805,690	Y399*	probably null	Het
Drosha	A	T	15: 12,846,130	E92D	probably benign	Het
Fanca	C	T	8: 123,268,539	G1408D	probably benign	Het
Frem1	T	A	4: 82,936,169	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,656,208	R293C	probably damaging	Het
Fut8	T	A	12: 77,448,560	V308D	probably damaging	Het
Glipr1	A	G	10: 111,993,541	I105T	probably benign	Het
Glmn	A	T	5: 107,560,934	S385T	probably benign	Het
Gm281	A	G	14: 13,899,571	V117A	probably damaging	Het
Gon4l	T	A	3: 88,895,682	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,857,499	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,803,637	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 82,034,391	H586L	probably benign	Het
Gucy2e	A	G	11: 69,236,632	L5P	unknown	Het
Hectd4	A	G	5: 121,295,506		probably benign	Het
Hmcn1	T	A	1: 150,808,647	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,272,704		probably null	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Kcnma1	C	A	14: 23,314,175	R980L	probably damaging	Het
Kif1a	A	G	1: 93,046,778		probably benign	Het
Klhdc7b	A	G	15: 89,388,521	H1202R	probably benign	Het
Lig3	A	G	11: 82,793,935	D559G	probably damaging	Het
Lyst	T	C	13: 13,677,952	V2179A	probably benign	Het
Mansc4	A	G	6: 147,075,227	I297T	possibly damaging	Het
March6	A	T	15: 31,475,812	F633I	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Megf10	G	T	18: 57,259,802	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mib2	A	G	4: 155,656,062		probably benign	Het
Mut	C	T	17: 40,956,227	T564M	probably damaging	Het
Myh8	A	G	11: 67,306,264		probably benign	Het
Mypn	T	C	10: 63,192,380		probably benign	Het
Nf1	G	A	11: 79,468,876		probably null	Het
Notch3	T	A	17: 32,133,462	T1866S	possibly damaging	Het
Olfr108	C	T	17: 37,445,779	A86V	probably benign	Het
Olfr1189	A	T	2: 88,592,655	I284F	probably damaging	Het
Olfr1301	T	A	2: 111,754,585	M112K	probably damaging	Het
Olfr390	A	G	11: 73,787,315	I126V	possibly damaging	Het
Pkhd1	A	T	1: 20,350,490	I2464N	probably damaging	Het
Pkn1	A	G	8: 83,671,029	S817P	probably damaging	Het
Prkg2	A	T	5: 98,994,655		probably null	Het
Prl8a6	T	C	13: 27,433,101	D201G	probably benign	Het
Psmd1	C	T	1: 86,083,271	T356I	possibly damaging	Het
Ptk6	G	A	2: 181,202,527		probably benign	Het
Ptprn2	T	C	12: 117,211,846		probably benign	Het
Rbm42	G	A	7: 30,647,775	T106I	probably damaging	Het
Rims4	A	T	2: 163,864,120	V198E	probably damaging	Het
Ripk1	T	C	13: 34,009,750	S32P	probably damaging	Het
Rorc	T	C	3: 94,377,609		probably benign	Het
Rpl22l1	T	C	3: 28,806,536	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,678,758	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,636,453		probably benign	Het
Sp100	A	G	1: 85,650,131		probably benign	Het
Ssc5d	G	A	7: 4,927,881		probably benign	Het
Taf11	A	G	17: 27,907,661	L4P	probably benign	Het
Tm2d3	A	G	7: 65,695,334		probably benign	Het
Tmub2	T	C	11: 102,288,375		probably null	Het
Trim34a	T	A	7: 104,247,902	C58S	probably damaging	Het
Trpc3	T	C	3: 36,624,417	I840V	probably benign	Het
Trpm6	T	C	19: 18,829,952	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,035,294	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,957,356	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,456,120	F309S	probably damaging	Het
Wdr95	A	T	5: 149,564,390	D163V	probably damaging	Het
Xirp2	T	A	2: 67,509,909	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,841,423		probably benign	Het

Other mutations in Ino80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ino80	APN	2	119456718	missense	possibly damaging	0.83
IGL01404:Ino80	APN	2	119456718	missense	possibly damaging	0.83
IGL01985:Ino80	APN	2	119433321	missense	probably damaging	0.99
IGL02039:Ino80	APN	2	119380073	missense	probably damaging	1.00
IGL02187:Ino80	APN	2	119445457	splice site	probably benign
IGL02726:Ino80	APN	2	119442483	missense	probably damaging	1.00
Chosen	UTSW	2	119382269	splice site	probably null
PIT4677001:Ino80	UTSW	2	119377545	missense	probably benign
R0004:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0004:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0057:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0113:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0114:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0138:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0189:Ino80	UTSW	2	119379679	missense	probably benign	0.36
R0363:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0364:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0365:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0481:Ino80	UTSW	2	119431016	missense	probably damaging	1.00
R0532:Ino80	UTSW	2	119381983	missense	possibly damaging	0.79
R0580:Ino80	UTSW	2	119383481	missense	probably damaging	1.00
R0610:Ino80	UTSW	2	119382960	missense	probably damaging	1.00
R0675:Ino80	UTSW	2	119383481	missense	probably damaging	1.00
R1275:Ino80	UTSW	2	119427055	missense	probably benign	0.12
R1470:Ino80	UTSW	2	119379649	missense	probably damaging	1.00
R1470:Ino80	UTSW	2	119379649	missense	probably damaging	1.00
R1506:Ino80	UTSW	2	119425265	nonsense	probably null
R1510:Ino80	UTSW	2	119450049	missense	probably damaging	1.00
R1570:Ino80	UTSW	2	119447028	missense	possibly damaging	0.68
R1613:Ino80	UTSW	2	119392867	missense	probably damaging	1.00
R1673:Ino80	UTSW	2	119381936	missense	probably damaging	1.00
R1773:Ino80	UTSW	2	119418409	missense	probably benign	0.18
R1795:Ino80	UTSW	2	119406859	missense	probably damaging	1.00
R2093:Ino80	UTSW	2	119426670	missense	possibly damaging	0.55
R2105:Ino80	UTSW	2	119431929	missense	probably null	1.00
R2113:Ino80	UTSW	2	119454084	missense	probably damaging	1.00
R3618:Ino80	UTSW	2	119446872	missense	probably null	0.81
R4572:Ino80	UTSW	2	119402358	missense	probably damaging	1.00
R4649:Ino80	UTSW	2	119431008	missense	probably damaging	1.00
R4919:Ino80	UTSW	2	119442592	missense	probably damaging	1.00
R5113:Ino80	UTSW	2	119431945	missense	probably damaging	1.00
R5138:Ino80	UTSW	2	119383421	missense	probably damaging	1.00
R5458:Ino80	UTSW	2	119412429	missense	possibly damaging	0.50
R5499:Ino80	UTSW	2	119441647	missense	probably damaging	1.00
R5502:Ino80	UTSW	2	119402396	missense	probably damaging	1.00
R5531:Ino80	UTSW	2	119445575	missense	probably benign
R5740:Ino80	UTSW	2	119431029	missense	probably damaging	1.00
R5892:Ino80	UTSW	2	119439547	intron	probably benign
R5914:Ino80	UTSW	2	119458216	missense	probably damaging	0.99
R6000:Ino80	UTSW	2	119374508	missense	probably benign	0.04
R6263:Ino80	UTSW	2	119383414	missense	probably damaging	1.00
R6505:Ino80	UTSW	2	119451441	missense	probably damaging	1.00
R6942:Ino80	UTSW	2	119383502	missense	probably damaging	0.99
R7052:Ino80	UTSW	2	119426587	critical splice donor site	probably null
R7100:Ino80	UTSW	2	119374513	missense	possibly damaging	0.47
R7163:Ino80	UTSW	2	119392875	missense	probably damaging	1.00
R7187:Ino80	UTSW	2	119426591	missense	probably benign	0.00
R7202:Ino80	UTSW	2	119374437	missense	probably benign	0.00
R7218:Ino80	UTSW	2	119458127	missense	probably benign
R7389:Ino80	UTSW	2	119442529	missense	probably benign	0.00
R7419:Ino80	UTSW	2	119380014	missense	probably benign	0.00
R7437:Ino80	UTSW	2	119442586	missense	possibly damaging	0.86
R7607:Ino80	UTSW	2	119382269	splice site	probably null
R7702:Ino80	UTSW	2	119442573	missense	probably benign	0.01
R7975:Ino80	UTSW	2	119456467	splice site	probably null
R7978:Ino80	UTSW	2	119439393	missense	possibly damaging	0.93
R8376:Ino80	UTSW	2	119442487	missense	probably benign	0.14
R8469:Ino80	UTSW	2	119379593	missense	probably benign
R8720:Ino80	UTSW	2	119402387	missense	probably damaging	1.00
R8751:Ino80	UTSW	2	119406908	missense	probably benign
R8958:Ino80	UTSW	2	119383381	missense	probably damaging	1.00
R8992:Ino80	UTSW	2	119379578	missense	possibly damaging	0.93
R9319:Ino80	UTSW	2	119374524	missense	probably benign	0.13
R9346:Ino80	UTSW	2	119426958	missense	possibly damaging	0.54
R9370:Ino80	UTSW	2	119402367	missense	probably damaging	1.00
R9621:Ino80	UTSW	2	119450015	missense	probably damaging	0.98
R9641:Ino80	UTSW	2	119445484	missense	probably benign	0.08
R9650:Ino80	UTSW	2	119446983	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ccctacctaagacaGAATGCCTACAAAC -3'
(R):5'- AAGCTGAGCAGGCTTTGTACTTCTAAAT -3'

Sequencing Primer
(F):5'- tataatcccagcacttgggaaattg -3'
(R):5'- ATGTATTAGGGTTCACTGAGCAAG -3'

Posted On

2013-04-11