Incidental Mutation 'R9641:Ino80'
ID 725963
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: 0.959) question?
Stock # R9641 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 119203523-119308168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119275965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 437 (V437A)
Ref Sequence ENSEMBL: ENSMUSP00000106431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049920] [ENSMUST00000110808]
AlphaFold Q6ZPV2
Predicted Effect probably benign
Transcript: ENSMUST00000049920
AA Change: V437A

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: V437A

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 benign
Transcript: ENSMUST00000110808
AA Change: V437A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: V437A

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: 99.8%
  • 20x: 99.3%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,430,498 (GRCm39) F52L possibly damaging Het
Abca16 T C 7: 120,126,308 (GRCm39) C1156R possibly damaging Het
Abcg3 A C 5: 105,084,483 (GRCm39) S571A probably benign Het
Abi3 C A 11: 95,724,503 (GRCm39) L259F unknown Het
Adam19 A T 11: 46,027,149 (GRCm39) D594V probably damaging Het
Adam34 C T 8: 44,104,076 (GRCm39) S523N probably damaging Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Adamts14 A T 10: 61,106,829 (GRCm39) V97E probably damaging Het
Adipor1 T C 1: 134,355,878 (GRCm39) Y226H probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Ankrd53 A G 6: 83,740,692 (GRCm39) D160G possibly damaging Het
Ap1m1 A T 8: 73,003,606 (GRCm39) Y94F probably damaging Het
Arhgef28 A C 13: 98,078,983 (GRCm39) D1314E probably benign Het
Bicc1 A G 10: 70,863,772 (GRCm39) I90T probably benign Het
Celf6 A G 9: 59,485,833 (GRCm39) D58G probably damaging Het
Cfap74 T C 4: 155,549,054 (GRCm39) S38P unknown Het
Cps1 A G 1: 67,234,342 (GRCm39) I910V probably benign Het
Cracdl C T 1: 37,663,592 (GRCm39) A769T possibly damaging Het
Crybg2 C T 4: 133,816,620 (GRCm39) Q1353* probably null Het
Cyp4f39 T C 17: 32,705,982 (GRCm39) Y358H probably damaging Het
Dcp1a T A 14: 30,241,132 (GRCm39) I314N probably damaging Het
Dgki A C 6: 37,126,489 (GRCm39) W164G probably damaging Het
Dnah8 A G 17: 30,932,029 (GRCm39) I1466V probably benign Het
Efcab6 T A 15: 83,763,676 (GRCm39) R1219W probably damaging Het
Faap24 A T 7: 35,094,494 (GRCm39) F102Y probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Frem1 C T 4: 82,877,653 (GRCm39) G1308D probably damaging Het
Hectd1 T C 12: 51,816,047 (GRCm39) T1347A probably benign Het
Hipk3 A T 2: 104,267,376 (GRCm39) H620Q probably benign Het
Hpd A G 5: 123,310,052 (GRCm39) S391P probably benign Het
Itgax G T 7: 127,741,152 (GRCm39) G785C probably damaging Het
Kcnk18 C T 19: 59,223,266 (GRCm39) T137I probably damaging Het
Kif16b A G 2: 142,542,589 (GRCm39) F236L probably benign Het
Lamb1 T C 12: 31,337,457 (GRCm39) M396T probably damaging Het
Lrfn5 C A 12: 61,886,540 (GRCm39) N109K probably damaging Het
Lrrc15 T A 16: 30,093,006 (GRCm39) N111I probably damaging Het
Lrrk2 A T 15: 91,671,251 (GRCm39) I2011F possibly damaging Het
Lsr A G 7: 30,658,285 (GRCm39) I336T probably damaging Het
Mettl21e T A 1: 44,250,351 (GRCm39) R18S probably benign Het
Mrpl22 T C 11: 58,068,047 (GRCm39) L115P probably damaging Het
N4bp2 T A 5: 65,948,035 (GRCm39) S222T probably benign Het
Nat2 A G 8: 67,954,522 (GRCm39) T211A probably benign Het
Nbeal1 T A 1: 60,350,247 (GRCm39) I2432N probably damaging Het
Neb A G 2: 52,112,783 (GRCm39) I1158T Het
Nrip3 C T 7: 109,362,793 (GRCm39) E164K probably damaging Het
Obox6 G A 7: 15,568,742 (GRCm39) Q45* probably null Het
Ola1 T C 2: 73,033,784 (GRCm39) N44D probably benign Het
Or1x6 C T 11: 50,939,207 (GRCm39) T91M probably benign Het
Or2y1c T C 11: 49,361,509 (GRCm39) F177S probably damaging Het
Or5b111 A T 19: 13,291,100 (GRCm39) M183K probably damaging Het
Or5d39 A T 2: 87,980,255 (GRCm39) I36N possibly damaging Het
Or5p81 A T 7: 108,267,516 (GRCm39) N298Y probably damaging Het
Or6ae1 A G 7: 139,742,771 (GRCm39) F31L probably benign Het
Or8b51 T A 9: 38,568,915 (GRCm39) M258L probably benign Het
Pde10a A G 17: 9,197,816 (GRCm39) K753R Het
Phldb1 T C 9: 44,627,839 (GRCm39) D202G probably damaging Het
Pik3cb T C 9: 98,955,789 (GRCm39) N376S probably benign Het
Plekhh2 A G 17: 84,874,130 (GRCm39) N472D probably damaging Het
Ppp4r4 T A 12: 103,567,811 (GRCm39) F708Y probably benign Het
Rnf157 A G 11: 116,303,576 (GRCm39) V12A probably benign Het
Saa3 T C 7: 46,364,494 (GRCm39) I11V probably benign Het
Sall2 T C 14: 52,550,882 (GRCm39) E771G probably damaging Het
Sar1b C T 11: 51,670,573 (GRCm39) T39I probably damaging Het
Scn10a A T 9: 119,445,869 (GRCm39) L1428Q possibly damaging Het
Sema3f A G 9: 107,565,454 (GRCm39) I213T unknown Het
Serpina3m C T 12: 104,360,085 (GRCm39) Q386* probably null Het
Sh3gl3 G A 7: 81,909,370 (GRCm39) G26R probably damaging Het
Shq1 T C 6: 100,550,633 (GRCm39) E435G probably damaging Het
Sidt2 G T 9: 45,864,495 (GRCm39) A78E probably benign Het
Sin3b A G 8: 73,477,187 (GRCm39) Y818C probably damaging Het
Smarca2 C T 19: 26,656,498 (GRCm39) L825F possibly damaging Het
Srgn T A 10: 62,330,884 (GRCm39) M74L probably benign Het
Tbc1d22b A C 17: 29,813,747 (GRCm39) D360A possibly damaging Het
Tbx4 A G 11: 85,803,128 (GRCm39) R335G probably damaging Het
Tmem144 T C 3: 79,734,200 (GRCm39) N168D probably benign Het
Trip11 G A 12: 101,859,957 (GRCm39) Q307* probably null Het
Ttyh2 T C 11: 114,598,516 (GRCm39) Y296H probably damaging Het
Vmn1r236 G T 17: 21,507,043 (GRCm39) V54F probably benign Het
Xrra1 A C 7: 99,561,088 (GRCm39) H443P probably benign Het
Zc3h12a T C 4: 125,014,852 (GRCm39) T211A probably damaging Het
Zfp386 T G 12: 116,023,330 (GRCm39) D349E probably benign Het
Zkscan16 T A 4: 58,956,577 (GRCm39) H286Q probably benign Het
Znrf2 C T 6: 54,861,788 (GRCm39) P233L 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
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
R9650:Ino80 UTSW 2 119,277,464 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGCCTCTACTGAAAATTCTTAAG -3'
(R):5'- ACCCTACTTTAGGCCAAGAGG -3'

Sequencing Primer
(F):5'- GGCTTCCTTTGCAGAAATACACG -3'
(R):5'- GAGGCAACAACGAAAACTCAACTTC -3'
Posted On 2022-09-12