Incidental Mutation 'IGL01402:Ino80'
ID278348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ino80
Ensembl Gene ENSMUSG00000034154
Gene NameINO80 complex subunit
SynonymsINO80, 2310079N15Rik, 4632409L19Rik, Inoc1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL01402
Quality Score
Status
Chromosome2
Chromosomal Location119373042-119477687 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119456718 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 56 (D56V)
Ref Sequence ENSEMBL: ENSMUSP00000051845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049920] [ENSMUST00000110808]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049920
AA Change: D56V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: D56V

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: D56V

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: D56V

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Abca2 T C 2: 25,442,003 S1376P probably damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Akr1b7 A G 6: 34,421,117 R294G possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
Alk A T 17: 71,874,178 H1372Q probably damaging Het
Ano9 A C 7: 141,102,042 Y731* probably null Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Asl T C 5: 130,019,804 E43G probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa1 A G 6: 30,645,276 H417R possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Dcaf15 A T 8: 84,098,397 C469S probably damaging Het
Dpy19l4 C A 4: 11,273,006 probably null Het
E4f1 A T 17: 24,444,234 L699Q probably damaging Het
Eif4g2 A G 7: 111,077,027 F349S possibly damaging Het
Ermap T C 4: 119,187,158 Y147C probably damaging Het
Frk A C 10: 34,547,385 E153A probably damaging Het
Fubp3 G A 2: 31,604,721 probably null Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Hectd3 G T 4: 116,996,065 R163L probably damaging Het
Hectd4 T C 5: 121,339,417 probably benign Het
Ifnb1 T C 4: 88,522,243 R178G probably benign Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Kdm5a T A 6: 120,390,679 L445* probably null Het
Lins1 G A 7: 66,713,928 V524I probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mlh3 A T 12: 85,267,929 F494L probably benign Het
Mpped1 T C 15: 83,792,213 F60S possibly damaging Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Ncor1 C A 11: 62,340,474 V836F probably damaging Het
Nktr G A 9: 121,741,152 probably null Het
Olfr120 A G 17: 37,726,302 T93A probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Rnf144a T A 12: 26,327,301 Y93F probably benign Het
Rubcn G A 16: 32,827,296 T636M probably damaging Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sel1l A G 12: 91,841,833 S45P possibly damaging Het
Serpina3k A G 12: 104,340,623 D38G probably benign Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
St8sia6 T C 2: 13,665,507 N214S probably damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tcerg1l A T 7: 138,259,839 I387N probably damaging Het
Tfg C A 16: 56,694,493 probably benign Het
Tgm4 A G 9: 123,051,454 K307E possibly damaging Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Tmem270 C T 5: 134,901,909 probably benign Het
Tnrc6b G T 15: 80,880,544 G749V possibly damaging Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r107 A T 17: 20,375,747 K854M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Wdr91 G A 6: 34,889,063 P518L probably benign Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging Het
Other mutations in Ino80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Ino80 APN 2 119456718 missense possibly damaging 0.83
IGL01985:Ino80 APN 2 119433321 missense probably damaging 0.99
IGL02039:Ino80 APN 2 119380073 missense probably damaging 1.00
IGL02187:Ino80 APN 2 119445457 splice site probably benign
IGL02726:Ino80 APN 2 119442483 missense probably damaging 1.00
PIT4677001:Ino80 UTSW 2 119377545 missense probably benign
R0004:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0004:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0057:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0113:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0114:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0115:Ino80 UTSW 2 119431016 missense probably damaging 1.00
R0138:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0189:Ino80 UTSW 2 119379679 missense probably benign 0.36
R0363:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0364:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0365:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0481:Ino80 UTSW 2 119431016 missense probably damaging 1.00
R0532:Ino80 UTSW 2 119381983 missense possibly damaging 0.79
R0580:Ino80 UTSW 2 119383481 missense probably damaging 1.00
R0610:Ino80 UTSW 2 119382960 missense probably damaging 1.00
R0675:Ino80 UTSW 2 119383481 missense probably damaging 1.00
R1275:Ino80 UTSW 2 119427055 missense probably benign 0.12
R1470:Ino80 UTSW 2 119379649 missense probably damaging 1.00
R1470:Ino80 UTSW 2 119379649 missense probably damaging 1.00
R1506:Ino80 UTSW 2 119425265 nonsense probably null
R1510:Ino80 UTSW 2 119450049 missense probably damaging 1.00
R1570:Ino80 UTSW 2 119447028 missense possibly damaging 0.68
R1613:Ino80 UTSW 2 119392867 missense probably damaging 1.00
R1673:Ino80 UTSW 2 119381936 missense probably damaging 1.00
R1773:Ino80 UTSW 2 119418409 missense probably benign 0.18
R1795:Ino80 UTSW 2 119406859 missense probably damaging 1.00
R2093:Ino80 UTSW 2 119426670 missense possibly damaging 0.55
R2105:Ino80 UTSW 2 119431929 missense probably null 1.00
R2113:Ino80 UTSW 2 119454084 missense probably damaging 1.00
R3618:Ino80 UTSW 2 119446872 missense probably null 0.81
R4572:Ino80 UTSW 2 119402358 missense probably damaging 1.00
R4649:Ino80 UTSW 2 119431008 missense probably damaging 1.00
R4919:Ino80 UTSW 2 119442592 missense probably damaging 1.00
R5113:Ino80 UTSW 2 119431945 missense probably damaging 1.00
R5138:Ino80 UTSW 2 119383421 missense probably damaging 1.00
R5458:Ino80 UTSW 2 119412429 missense possibly damaging 0.50
R5499:Ino80 UTSW 2 119441647 missense probably damaging 1.00
R5502:Ino80 UTSW 2 119402396 missense probably damaging 1.00
R5531:Ino80 UTSW 2 119445575 missense probably benign
R5740:Ino80 UTSW 2 119431029 missense probably damaging 1.00
R5892:Ino80 UTSW 2 119439547 intron probably benign
R5914:Ino80 UTSW 2 119458216 missense probably damaging 0.99
R6000:Ino80 UTSW 2 119374508 missense probably benign 0.04
R6263:Ino80 UTSW 2 119383414 missense probably damaging 1.00
R6505:Ino80 UTSW 2 119451441 missense probably damaging 1.00
R6942:Ino80 UTSW 2 119383502 missense probably damaging 0.99
R7052:Ino80 UTSW 2 119426587 critical splice donor site probably null
R7100:Ino80 UTSW 2 119374513 missense possibly damaging 0.47
R7163:Ino80 UTSW 2 119392875 missense probably damaging 1.00
R7187:Ino80 UTSW 2 119426591 missense probably benign 0.00
R7202:Ino80 UTSW 2 119374437 missense probably benign 0.00
R7218:Ino80 UTSW 2 119458127 missense probably benign
R7389:Ino80 UTSW 2 119442529 missense probably benign 0.00
R7419:Ino80 UTSW 2 119380014 missense probably benign 0.00
R7437:Ino80 UTSW 2 119442586 missense possibly damaging 0.86
R7702:Ino80 UTSW 2 119442573 missense probably benign 0.01
Posted On2015-04-16