Incidental Mutation 'R5914:Ino80'
ID 461171
Institutional Source Beutler Lab
Gene Symbol Ino80
Ensembl Gene ENSMUSG00000034154
Gene Name INO80 complex subunit
Synonyms INO80, Inoc1, 4632409L19Rik, 2310079N15Rik
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119203523-119308168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119288697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 3 (S3L)
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: S3L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: S3L

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 possibly damaging
Transcript: ENSMUST00000110808
AA Change: S3L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: S3L

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
Meta Mutation Damage Score 0.1321 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Birc2 A C 9: 7,857,343 (GRCm39) *377E probably null Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cdkl4 C T 17: 80,855,120 (GRCm39) probably null Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Spon1 G A 7: 113,630,056 (GRCm39) D428N probably damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Trip12 T C 1: 84,741,179 (GRCm39) E571G probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign Het
Zgrf1 T A 3: 127,354,672 (GRCm39) L97H probably damaging 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
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
R9650:Ino80 UTSW 2 119,277,464 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGAGTGAGTTCCAGGACAGCC -3'
(R):5'- GAGGCAGTGTCTAATGAACTTTC -3'

Sequencing Primer
(F):5'- TTCCAGGACAGCCAGGGATAC -3'
(R):5'- GCAGTGTCTAATGAACTTTCTGTAG -3'
Posted On 2017-02-28