Incidental Mutation 'R9650:Ino80'
ID 727016
Institutional Source Beutler Lab
Gene Symbol Ino80
Ensembl Gene ENSMUSG00000034154
Gene Name INO80 complex subunit
Synonyms INO80, Inoc1, 4632409L19Rik, 2310079N15Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R9650 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 119203523-119308168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119277464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 337 (R337Q)
Ref Sequence ENSEMBL: ENSMUSP00000106431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049920] [ENSMUST00000110808]
AlphaFold Q6ZPV2
Predicted Effect probably damaging
Transcript: ENSMUST00000049920
AA Change: R337Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: R337Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000110808
AA Change: R337Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: R337Q

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,446 (GRCm39) N1469Y probably benign Het
Actl10 T A 2: 154,394,682 (GRCm39) N211K probably benign Het
Adam33 C T 2: 130,894,989 (GRCm39) V690M possibly damaging Het
Agap2 G A 10: 126,927,653 (GRCm39) R1178H unknown Het
Ank2 T A 3: 126,735,829 (GRCm39) T3352S unknown Het
BC005537 T A 13: 24,986,122 (GRCm39) D7E unknown Het
Bptf T C 11: 106,935,412 (GRCm39) M142V probably benign Het
Cox15 A G 19: 43,735,318 (GRCm39) Y150H probably benign Het
Cpq A T 15: 33,497,405 (GRCm39) I382F possibly damaging Het
Cps1 T C 1: 67,254,636 (GRCm39) F1275S Het
Cs T A 10: 128,196,856 (GRCm39) M417K probably benign Het
Cyp2b19 G A 7: 26,466,208 (GRCm39) R337Q possibly damaging Het
Dmgdh A T 13: 93,845,333 (GRCm39) Y442F probably benign Het
Dync2h1 A T 9: 7,174,849 (GRCm39) D131E possibly damaging Het
Epb41l2 A G 10: 25,369,495 (GRCm39) I605V probably benign Het
Evc G A 5: 37,458,162 (GRCm39) P963L probably damaging Het
Evl C A 12: 108,641,698 (GRCm39) T160N probably benign Het
Fam76a T C 4: 132,629,387 (GRCm39) Y255C probably damaging Het
Fras1 G T 5: 96,910,387 (GRCm39) R3272L probably damaging Het
Fry T C 5: 150,369,375 (GRCm39) V2283A probably damaging Het
Fzd6 A G 15: 38,894,941 (GRCm39) Y369C probably damaging Het
Hip1r T C 5: 124,135,357 (GRCm39) probably null Het
Hps5 A G 7: 46,425,354 (GRCm39) S449P probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Itgax T C 7: 127,734,935 (GRCm39) I422T probably benign Het
Itk A T 11: 46,222,778 (GRCm39) Y564N probably damaging Het
Kcnh5 A C 12: 75,023,293 (GRCm39) S592A probably benign Het
Klhl40 T A 9: 121,609,083 (GRCm39) V416E possibly damaging Het
Lhfpl4 T C 6: 113,171,147 (GRCm39) E13G probably benign Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Muc16 A T 9: 18,553,762 (GRCm39) M4177K unknown Het
Ngef T A 1: 87,415,552 (GRCm39) T371S possibly damaging Het
Nutm2 A T 13: 50,623,755 (GRCm39) T151S probably benign Het
Or4c109 A T 2: 88,818,006 (GRCm39) L180* probably null Het
Or51f2 T C 7: 102,526,987 (GRCm39) I220T probably damaging Het
Pate13 A C 9: 35,820,799 (GRCm39) M84L probably benign Het
Pcdhga8 T A 18: 37,860,519 (GRCm39) I525K probably benign Het
Pcx C T 19: 4,657,714 (GRCm39) R394C probably damaging Het
Pnmt A T 11: 98,278,262 (GRCm39) D112V probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rrp7a A T 15: 83,004,091 (GRCm39) probably null Het
Senp1 A T 15: 97,946,248 (GRCm39) M499K probably damaging Het
Serpina3f G A 12: 104,186,519 (GRCm39) A362T possibly damaging Het
Slc29a3 T A 10: 60,586,302 (GRCm39) I55F possibly damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Tln1 G A 4: 43,545,912 (GRCm39) T901I probably damaging Het
Tmem102 T C 11: 69,695,869 (GRCm39) K64R probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tnxb G A 17: 34,930,629 (GRCm39) V2105I probably damaging Het
Traf2 A C 2: 25,410,454 (GRCm39) C391W probably damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp2 C A 9: 44,000,476 (GRCm39) N288K probably damaging Het
Utrn T C 10: 12,613,929 (GRCm39) T381A probably benign Het
Vil1 C T 1: 74,464,775 (GRCm39) P474L probably benign Het
Wasf2 T A 4: 132,917,457 (GRCm39) N185K unknown Het
Zfp865 A G 7: 5,037,683 (GRCm39) M45V unknown Het
Other mutations in Ino80
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CCTTAGTGCTTTGGTACTAAATAGAGG -3'
(R):5'- CTCAGGGGCATTAATTAAAGCAGG -3'

Sequencing Primer
(F):5'- GTTCCAGGATAGCTGGACTACAC -3'
(R):5'- CAGGAGAGAGAGATATAATCACCTC -3'
Posted On 2022-10-06