Incidental Mutation 'R9621:Ino80'
ID 724771
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 # R9621 (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 G at 119280496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 289 (K289N)
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: K289N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: K289N

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: K289N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: K289N

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: 99.6%
  • 20x: 98.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,092,918 (GRCm39) T289A probably benign Het
Adnp A T 2: 168,024,663 (GRCm39) S877R probably benign Het
Akap13 T A 7: 75,386,090 (GRCm39) H555Q probably benign Het
Alg6 T A 4: 99,615,131 (GRCm39) Y38* probably null Het
Amtn C A 5: 88,528,205 (GRCm39) Q93K probably benign Het
Ap2b1 T C 11: 83,293,424 (GRCm39) V937A probably damaging Het
Arih1 ATCGTCCGGCTCGTCCTCGTCGTCGTCC ATCGTCC 9: 59,393,520 (GRCm39) probably benign Het
Atosa A G 9: 74,917,512 (GRCm39) N711D possibly damaging Het
Bhmt A G 13: 93,758,079 (GRCm39) S211P possibly damaging Het
Bltp3a T A 17: 28,105,753 (GRCm39) S760T probably benign Het
Bmp1 T C 14: 70,715,306 (GRCm39) Y943C probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cbfb A C 8: 105,905,243 (GRCm39) T62P probably damaging Het
Ccdc154 T C 17: 25,386,355 (GRCm39) F249L probably damaging Het
Cdh26 T A 2: 178,111,983 (GRCm39) F514L probably damaging Het
Cdhr2 A G 13: 54,866,350 (GRCm39) E352G Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Cfdp1 A G 8: 112,571,807 (GRCm39) V34A probably damaging Het
Cntnap2 A T 6: 46,965,726 (GRCm39) I846F probably damaging Het
Cntrl A G 2: 35,050,278 (GRCm39) K1464E probably damaging Het
Crybg3 T C 16: 59,326,613 (GRCm39) D1039G possibly damaging Het
Csmd3 A T 15: 47,713,116 (GRCm39) S778R Het
Daam2 C T 17: 49,780,332 (GRCm39) C729Y probably damaging Het
Ddx18 T C 1: 121,489,132 (GRCm39) H305R probably damaging Het
Dio1 C T 4: 107,149,558 (GRCm39) C248Y probably benign Het
Dnah1 C A 14: 31,016,772 (GRCm39) A1582S probably damaging Het
Eef1a1 A T 9: 78,386,632 (GRCm39) D319E probably benign Het
Fam171b G A 2: 83,643,109 (GRCm39) R6H probably damaging Het
Flnb G A 14: 7,926,421 (GRCm38) G1822R probably damaging Het
Gabrb1 G A 5: 72,279,363 (GRCm39) V303I possibly damaging Het
Gli3 T G 13: 15,901,253 (GRCm39) S1547A probably benign Het
Gm4884 A T 7: 40,693,111 (GRCm39) N360I possibly damaging Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Itpr1 G A 6: 108,393,870 (GRCm39) E1638K probably damaging Het
Jakmip1 A T 5: 37,274,812 (GRCm39) I45F unknown Het
Kif1a G A 1: 92,983,445 (GRCm39) P684L probably benign Het
Kpnb1 A T 11: 97,058,460 (GRCm39) S610T probably benign Het
Man1a2 A G 3: 100,591,961 (GRCm39) V73A probably benign Het
Mbtps1 A G 8: 120,235,621 (GRCm39) V1019A possibly damaging Het
Muc21 T A 17: 35,932,720 (GRCm39) T489S unknown Het
Nup210 G C 6: 90,994,375 (GRCm39) N1774K probably benign Het
Or10p21 G T 10: 128,847,759 (GRCm39) V202F probably benign Het
Pik3c2b T C 1: 132,999,345 (GRCm39) S398P probably damaging Het
Pmpca A G 2: 26,279,988 (GRCm39) T37A probably benign Het
Ppfia1 A G 7: 144,052,516 (GRCm39) S840P probably damaging Het
Prkcq A T 2: 11,261,014 (GRCm39) K355N probably benign Het
Prorp C A 12: 55,429,042 (GRCm39) H538N probably benign Het
Ptprg A G 14: 12,237,809 (GRCm38) K1422R probably benign Het
Ptprq T C 10: 107,378,523 (GRCm39) E2006G probably damaging Het
Qsox1 TG T 1: 155,671,135 (GRCm39) probably null Het
Rcor2 A T 19: 7,251,591 (GRCm39) T412S probably benign Het
Rnf224 A T 2: 25,126,200 (GRCm39) M51K probably benign Het
Robo4 A G 9: 37,317,509 (GRCm39) D521G probably damaging Het
Sf3b4 T A 3: 96,084,115 (GRCm39) S360T unknown Het
Sgo2b T C 8: 64,380,651 (GRCm39) D727G probably damaging Het
Smpd2 C A 10: 41,364,283 (GRCm39) V172L probably benign Het
Spring1 C T 5: 118,393,880 (GRCm39) T86I possibly damaging Het
Syne1 C T 10: 5,273,887 (GRCm39) A1966T probably benign Het
Syt13 G A 2: 92,745,575 (GRCm39) G15D possibly damaging Het
Taf3 A T 2: 9,923,070 (GRCm39) L18Q unknown Het
Tcam1 T A 11: 106,176,259 (GRCm39) N328K probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tet2 A T 3: 133,193,767 (GRCm39) Y222* probably null Het
Timm29 A T 9: 21,504,218 (GRCm39) probably benign Het
Tmc6 T C 11: 117,669,995 (GRCm39) D17G probably benign Het
Tmem30a T A 9: 79,687,926 (GRCm39) D81V probably benign Het
Tnnt1 T C 7: 4,511,501 (GRCm39) I195V probably benign Het
Ttll5 T A 12: 85,938,896 (GRCm39) V398E possibly damaging Het
Ttn T C 2: 76,748,441 (GRCm39) T4203A possibly damaging Het
Ubc A G 5: 125,464,511 (GRCm39) I272T probably damaging Het
Unc45a A G 7: 79,983,785 (GRCm39) L337P probably damaging Het
Vmn1r229 T C 17: 21,035,315 (GRCm39) F187L probably benign Het
Wrn A T 8: 33,814,301 (GRCm39) M381K probably benign Het
Zdbf2 A G 1: 63,342,635 (GRCm39) N338S possibly damaging Het
Zfp541 A G 7: 15,805,892 (GRCm39) E9G possibly damaging Het
Zrsr2-ps1 G A 11: 22,923,418 (GRCm39) R64Q possibly damaging Het
Zswim8 T A 14: 20,772,231 (GRCm39) S1614T 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
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
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'- CCTCATGCTGGTCAGTGTTAATG -3'
(R):5'- TACAGCCTTGTCAGCATCTC -3'

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