Incidental Mutation 'R0580:Ino80'
ID 56380
Institutional Source Beutler Lab
Gene Symbol Ino80
Ensembl Gene ENSMUSG00000034154
Gene Name INO80 complex subunit
Synonyms INO80, Inoc1, 4632409L19Rik, 2310079N15Rik
MMRRC Submission 038770-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R0580 (G1)
Quality Score 132
Status Validated
Chromosome 2
Chromosomal Location 119203523-119308168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119213962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1203 (P1203S)
Ref Sequence ENSEMBL: ENSMUSP00000051845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049920]
AlphaFold Q6ZPV2
Predicted Effect probably damaging
Transcript: ENSMUST00000049920
AA Change: P1203S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: P1203S

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
Meta Mutation Damage Score 0.8889 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 93.7%
Validation Efficiency 95% (40/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,470 (GRCm39) D314E probably damaging Het
Abcc10 C T 17: 46,616,882 (GRCm39) probably null Het
Adgrg5 T C 8: 95,663,972 (GRCm39) probably null Het
Akap12 A T 10: 4,304,741 (GRCm39) D517V possibly damaging Het
Arhgap23 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 11: 97,337,362 (GRCm39) probably null Het
Bpi A T 2: 158,100,215 (GRCm39) M1L probably damaging Het
Carm1 C T 9: 21,494,880 (GRCm39) P339S probably damaging Het
Chchd3 A C 6: 32,870,325 (GRCm39) probably null Het
Chd9 T C 8: 91,721,191 (GRCm39) V520A possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Col10a1 A G 10: 34,270,948 (GRCm39) R307G probably benign Het
Cpeb3 T C 19: 37,151,435 (GRCm39) T314A probably benign Het
Csmd1 A T 8: 15,960,528 (GRCm39) Y3296N probably damaging Het
Dtx2 A T 5: 136,061,180 (GRCm39) T521S probably damaging Het
Ext2 A T 2: 93,626,070 (GRCm39) V330E probably benign Het
Extl3 A G 14: 65,313,178 (GRCm39) L668P probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Grm8 A G 6: 27,761,370 (GRCm39) probably benign Het
Herc2 T A 7: 55,788,539 (GRCm39) V1763D probably damaging Het
Iqce A G 5: 140,651,156 (GRCm39) F768L possibly damaging Het
Kntc1 G A 5: 123,941,732 (GRCm39) V1809I probably benign Het
Lyzl1 A C 18: 4,181,134 (GRCm39) T58P probably damaging Het
Mlxipl A G 5: 135,152,829 (GRCm39) T287A probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Net1 A G 13: 3,936,612 (GRCm39) Y264H probably damaging Het
Nnmt T C 9: 48,503,600 (GRCm39) D142G probably damaging Het
Nod2 T A 8: 89,391,034 (GRCm39) I432N probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or2y1g T A 11: 49,171,449 (GRCm39) I158N probably damaging Het
Or6b6 A G 7: 106,571,447 (GRCm39) Y35H probably damaging Het
Pign A C 1: 105,519,419 (GRCm39) I501S probably benign Het
Scgb2b19 A T 7: 32,977,995 (GRCm39) S101T probably benign Het
Slc7a5 A T 8: 122,611,855 (GRCm39) M391K probably benign Het
Sptan1 A G 2: 29,897,587 (GRCm39) R1217G probably damaging Het
Srgap2 A G 1: 131,277,239 (GRCm39) V336A possibly damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Syt10 A T 15: 89,711,379 (GRCm39) D51E probably benign Het
Vmn2r96 T C 17: 18,802,900 (GRCm39) V270A 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
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'- GGTACAGGCTCCAATGCTTACCAAG -3'
(R):5'- TGCCTAGTTTTCCAGAGCAACACAC -3'

Sequencing Primer
(F):5'- CAAGAACACTAGTTTGTCTGCC -3'
(R):5'- GAGCAACACACATATAGCTTGGTC -3'
Posted On 2013-07-11