Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Ino80b'

318961

Institutional Source

Beutler Lab

Gene Symbol

Ino80b

Ensembl Gene

ENSMUSG00000030034

Gene Name

INO80 complex subunit B

Synonyms

Papa1, Znhit4, 2510009I23Rik, HMG1YL4, Hmga1l4

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83121765-83125431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 83122333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 178 (P178R)

Ref Sequence

ENSEMBL: ENSMUSP00000032109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032109] [ENSMUST00000032111] [ENSMUST00000032114] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000143814] [ENSMUST00000146328] [ENSMUST00000151393] [ENSMUST00000205023]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032109
AA Change: P178R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034
AA Change: P178R

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
low complexity region	129	137	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
Pfam:PAPA-1	198	282	1.6e-27	PFAM
Pfam:zf-HIT	294	325	6.1e-10	PFAM
low complexity region	330	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032111

SMART Domains

Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	177	1.4e-50	PFAM
low complexity region	185	200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032114

SMART Domains

Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
Pfam:Glyco_hydro_63N	91	267	1.1e-54	PFAM
Pfam:Glyco_hydro_63	349	832	7e-202	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113935
AA Change: P208R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034
AA Change: P208R

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
low complexity region	159	167	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
Pfam:PAPA-1	228	309	4e-23	PFAM
Pfam:zf-HIT	324	355	4.3e-11	PFAM
low complexity region	360	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113936

SMART Domains

Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:WBP-1	36	142	1.2e-50	PFAM
low complexity region	150	165	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123394

Predicted Effect

probably benign
Transcript: ENSMUST00000131936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142493

Predicted Effect

probably benign
Transcript: ENSMUST00000143814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145403

Predicted Effect

probably benign
Transcript: ENSMUST00000146328

SMART Domains

Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	30	N/A	INTRINSIC
Pfam:WBP-1	70	176	1.8e-50	PFAM
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151393

SMART Domains

Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	16	31	N/A	INTRINSIC
Pfam:WBP-1	71	96	4.4e-6	PFAM
low complexity region	102	113	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203085

Predicted Effect

probably benign
Transcript: ENSMUST00000205023

Meta Mutation Damage Score

0.1582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Ino80b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Ino80b	APN	6	83124148	missense	probably damaging	1.00
IGL02063:Ino80b	APN	6	83124162	missense	probably damaging	0.99
R0310:Ino80b	UTSW	6	83124091	missense	probably damaging	1.00
R2022:Ino80b	UTSW	6	83124372	missense	probably damaging	0.98
R4051:Ino80b	UTSW	6	83122333	missense	probably damaging	1.00
R4052:Ino80b	UTSW	6	83122333	missense	probably damaging	1.00
R4114:Ino80b	UTSW	6	83124140	missense	probably benign	0.00
R4208:Ino80b	UTSW	6	83122333	missense	probably damaging	1.00
R4751:Ino80b	UTSW	6	83124750	missense	probably damaging	0.99
R5023:Ino80b	UTSW	6	83125042	missense	probably damaging	1.00
R6111:Ino80b	UTSW	6	83124366	missense	probably damaging	1.00
R6298:Ino80b	UTSW	6	83125085	missense	possibly damaging	0.92
R6467:Ino80b	UTSW	6	83124131	splice site	probably null
R7024:Ino80b	UTSW	6	83122325	missense	probably benign	0.03
R8816:Ino80b	UTSW	6	83121880	missense	probably damaging	0.98
R9238:Ino80b	UTSW	6	83125333	unclassified	probably benign
X0023:Ino80b	UTSW	6	83121952	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCACTGTAGGCTGCAAAGG -3'
(R):5'- AGAAGTGTGGTATTAAGGGTCCC -3'

Sequencing Primer
(F):5'- TGCAGTAGCGCACCATG -3'
(R):5'- GTGGCACAAGCATTTGATCC -3'

Posted On

2015-06-10