Incidental Mutation 'R0115:Ino80'
ID 20698
Institutional Source Beutler Lab
Gene Symbol Ino80
Ensembl Gene ENSMUSG00000034154
Gene Name INO80 complex subunit
Synonyms INO80, Inoc1, 4632409L19Rik, 2310079N15Rik
MMRRC Submission 038401-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R0115 (G1)
Quality Score 158
Status Validated (trace)
Chromosome 2
Chromosomal Location 119203523-119308168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119261497 bp (GRCm39)
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

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: H722Q

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: H722Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138707
Meta Mutation Damage Score 0.2763 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,108,452 (GRCm39) noncoding transcript Het
Alas1 A T 9: 106,115,451 (GRCm39) probably null Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
Arhgap20 T A 9: 51,750,272 (GRCm39) I344N probably damaging Het
Arhgap30 A C 1: 171,235,516 (GRCm39) E630A possibly damaging Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bdp1 A G 13: 100,177,962 (GRCm39) I1969T probably benign Het
Bysl C T 17: 47,921,867 (GRCm39) R77Q probably benign Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccdc146 T C 5: 21,527,754 (GRCm39) I187M possibly damaging Het
Ccdc192 G A 18: 57,727,214 (GRCm39) probably benign Het
Cdhr18 A G 14: 13,899,571 (GRCm38) V117A probably damaging Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Ces5a A T 8: 94,228,811 (GRCm39) M473K probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwc22 G A 2: 77,738,455 (GRCm39) A497V probably damaging Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Cyp2c50 T A 19: 40,080,837 (GRCm39) probably benign Het
Dlg1 C A 16: 31,624,508 (GRCm39) Y399* probably null Het
Drosha A T 15: 12,846,216 (GRCm39) E92D probably benign Het
Fanca C T 8: 123,995,278 (GRCm39) G1408D probably benign Het
Frem1 T A 4: 82,854,406 (GRCm39) D1621V possibly damaging Het
Frem2 G A 3: 53,563,629 (GRCm39) R293C probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Glipr1 A G 10: 111,829,446 (GRCm39) I105T probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Gon4l T A 3: 88,802,989 (GRCm39) V1200D probably damaging Het
Gpc1 G A 1: 92,785,221 (GRCm39) D387N probably damaging Het
Gsdmc A G 15: 63,675,486 (GRCm39) Y110H probably damaging Het
Gucy1b1 T A 3: 81,941,698 (GRCm39) H586L probably benign Het
Gucy2e A G 11: 69,127,458 (GRCm39) L5P unknown Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,684,398 (GRCm39) I391F possibly damaging Het
Hsf4 A T 8: 105,999,336 (GRCm39) probably null Het
I830077J02Rik G A 3: 105,833,886 (GRCm39) T90M probably damaging Het
Kcnma1 C A 14: 23,364,243 (GRCm39) R980L probably damaging Het
Kif1a A G 1: 92,974,500 (GRCm39) probably benign Het
Klhdc7b A G 15: 89,272,724 (GRCm39) H1202R probably benign Het
Lig3 A G 11: 82,684,761 (GRCm39) D559G probably damaging Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Mab21l4 A T 1: 93,087,447 (GRCm39) S135R possibly damaging Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Marchf6 A T 15: 31,475,958 (GRCm39) F633I probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Megf10 G T 18: 57,392,874 (GRCm39) V424L possibly damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mmut C T 17: 41,267,118 (GRCm39) T564M probably damaging Het
Myh8 A G 11: 67,197,090 (GRCm39) probably benign Het
Mypn T C 10: 63,028,159 (GRCm39) probably benign Het
Nf1 G A 11: 79,359,702 (GRCm39) probably null Het
Notch3 T A 17: 32,352,436 (GRCm39) T1866S possibly damaging Het
Or1e30 A G 11: 73,678,141 (GRCm39) I126V possibly damaging Het
Or1o11 C T 17: 37,756,670 (GRCm39) A86V probably benign Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Pkhd1 A T 1: 20,420,714 (GRCm39) I2464N probably damaging Het
Pkn1 A G 8: 84,397,658 (GRCm39) S817P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Psmd1 C T 1: 86,010,993 (GRCm39) T356I possibly damaging Het
Ptk6 G A 2: 180,844,320 (GRCm39) probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rbm42 G A 7: 30,347,200 (GRCm39) T106I probably damaging Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rorc T C 3: 94,284,916 (GRCm39) probably benign Het
Rpl22l1 T C 3: 28,860,685 (GRCm39) F15L probably damaging Het
Slc6a20a C A 9: 123,507,823 (GRCm39) A17S possibly damaging Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Sp100 A G 1: 85,577,852 (GRCm39) probably benign Het
Ssc5d G A 7: 4,930,880 (GRCm39) probably benign Het
Taf11 A G 17: 28,126,635 (GRCm39) L4P probably benign Het
Tm2d3 A G 7: 65,345,082 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,201 (GRCm39) probably null Het
Trim34a T A 7: 103,897,109 (GRCm39) C58S probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm6 T C 19: 18,807,316 (GRCm39) V1020A probably damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r59 T C 7: 5,457,115 (GRCm39) N215S probably benign Het
Vmn2r74 T C 7: 85,606,564 (GRCm39) M261V probably benign Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Wdr95 A T 5: 149,487,855 (GRCm39) D163V probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Ythdc2 C T 18: 44,974,490 (GRCm39) probably benign 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
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
R9650:Ino80 UTSW 2 119,277,464 (GRCm39) 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