Incidental Mutation 'R6111:Ino80b'
ID 484837
Institutional Source Beutler Lab
Gene Symbol Ino80b
Ensembl Gene ENSMUSG00000030034
Gene Name INO80 complex subunit B
Synonyms HMG1YL4, Hmga1l4, Znhit4, Papa1, 2510009I23Rik
MMRRC Submission 044260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6111 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83098746-83102100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83101347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 121 (V121A)
Ref Sequence ENSEMBL: ENSMUSP00000109568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032109] [ENSMUST00000032111] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000205023] [ENSMUST00000151393] [ENSMUST00000146328] [ENSMUST00000143814]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032109
AA Change: V91A

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034
AA Change: V91A

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
low complexity region 129 137 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
Pfam:PAPA-1 198 282 1.6e-27 PFAM
Pfam:zf-HIT 294 325 6.1e-10 PFAM
low complexity region 330 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032111
SMART Domains Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 31 N/A INTRINSIC
Pfam:WBP-1 71 177 1.4e-50 PFAM
low complexity region 185 200 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113935
AA Change: V121A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034
AA Change: V121A

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
low complexity region 159 167 N/A INTRINSIC
low complexity region 191 207 N/A INTRINSIC
Pfam:PAPA-1 228 309 4e-23 PFAM
Pfam:zf-HIT 324 355 4.3e-11 PFAM
low complexity region 360 373 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113936
SMART Domains Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:WBP-1 36 142 1.2e-50 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123394
Predicted Effect probably benign
Transcript: ENSMUST00000131936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131939
Predicted Effect probably benign
Transcript: ENSMUST00000205023
Predicted Effect probably benign
Transcript: ENSMUST00000151393
SMART Domains Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 31 N/A INTRINSIC
Pfam:WBP-1 71 96 4.4e-6 PFAM
low complexity region 102 113 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203085
Predicted Effect probably benign
Transcript: ENSMUST00000146328
SMART Domains Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 16 30 N/A INTRINSIC
Pfam:WBP-1 70 176 1.8e-50 PFAM
low complexity region 184 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143814
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,476,021 (GRCm39) E1110G possibly damaging Het
Abcd4 G A 12: 84,661,888 (GRCm39) T79I probably damaging Het
Acd A G 8: 106,424,919 (GRCm39) M407T probably benign Het
Adcy2 T A 13: 68,877,360 (GRCm39) H460L probably damaging Het
Atad2 G A 15: 57,971,487 (GRCm39) H752Y probably benign Het
Bmal2 T C 6: 146,722,097 (GRCm39) F223L probably benign Het
Camsap2 A G 1: 136,209,036 (GRCm39) S819P probably benign Het
Col24a1 C A 3: 145,019,815 (GRCm39) T62K probably damaging Het
Cpne6 G A 14: 55,752,091 (GRCm39) V283M probably benign Het
D630003M21Rik A G 2: 158,055,368 (GRCm39) S590P probably damaging Het
Daam1 T A 12: 71,989,038 (GRCm39) M146K unknown Het
Dclk2 A G 3: 86,712,968 (GRCm39) Y495H probably benign Het
Ddx4 A T 13: 112,757,766 (GRCm39) C330* probably null Het
Dlec1 T C 9: 118,931,692 (GRCm39) L37P possibly damaging Het
Dock2 G A 11: 34,599,614 (GRCm39) P322S probably damaging Het
Espl1 A G 15: 102,208,323 (GRCm39) E443G probably damaging Het
Eya4 T A 10: 23,015,953 (GRCm39) D338V possibly damaging Het
Fcmr A G 1: 130,805,566 (GRCm39) I267V probably damaging Het
Gfra3 T A 18: 34,823,927 (GRCm39) H349L probably damaging Het
Gm25747 A G 12: 113,392,703 (GRCm39) probably benign Het
Gria4 G A 9: 4,502,430 (GRCm39) R368C probably damaging Het
H2-Q5 A T 17: 35,613,885 (GRCm39) I145F possibly damaging Het
Hace1 A T 10: 45,465,606 (GRCm39) K54I possibly damaging Het
Ift122 T A 6: 115,852,247 (GRCm39) I79N probably damaging Het
Kcnq1 A G 7: 142,661,474 (GRCm39) T63A probably benign Het
Map4k4 C A 1: 40,050,822 (GRCm39) Q762K probably benign Het
Mios G A 6: 8,214,836 (GRCm39) A11T probably benign Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Notch2 T C 3: 98,053,609 (GRCm39) S2091P probably benign Het
Nudt19 T A 7: 35,254,952 (GRCm39) D93V probably benign Het
Or8b12b T C 9: 37,684,228 (GRCm39) I91T probably damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
P3h1 C T 4: 119,098,329 (GRCm39) R369* probably null Het
Pcdhb3 A T 18: 37,435,242 (GRCm39) I403L probably benign Het
Pigo T C 4: 43,019,724 (GRCm39) D935G probably benign Het
Plpp1 A G 13: 113,003,451 (GRCm39) H224R probably damaging Het
Rai1 T A 11: 60,078,732 (GRCm39) M932K probably damaging Het
Rexo2 A T 9: 48,384,412 (GRCm39) F122L probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,153 (GRCm39) T77A unknown Het
Skint5 T C 4: 113,562,845 (GRCm39) T786A unknown Het
Smok3c C A 5: 138,063,365 (GRCm39) P284Q probably damaging Het
Spg11 A G 2: 121,923,963 (GRCm39) V786A probably damaging Het
Tmem273 T C 14: 32,528,755 (GRCm39) I40T possibly damaging Het
Tnfrsf10b T A 14: 70,020,007 (GRCm39) C380S possibly damaging Het
Tsen54 T C 11: 115,710,956 (GRCm39) V176A possibly damaging Het
Ttll4 A T 1: 74,736,698 (GRCm39) K1141M possibly damaging Het
Ttpa A T 4: 20,014,772 (GRCm39) I116F probably damaging Het
Tubgcp6 T C 15: 88,985,123 (GRCm39) D1655G possibly damaging Het
Usp38 A G 8: 81,740,551 (GRCm39) V172A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Wdr72 T C 9: 74,117,607 (GRCm39) M773T probably benign Het
Xirp2 T A 2: 67,342,161 (GRCm39) H1467Q possibly damaging Het
Zdhhc8 G T 16: 18,042,762 (GRCm39) S479R probably damaging Het
Zfp423 A G 8: 88,509,315 (GRCm39) V322A probably damaging Het
Zfp87 T G 13: 74,520,504 (GRCm39) E191D probably benign Het
Zfp933 T C 4: 147,913,217 (GRCm39) T14A probably damaging Het
Other mutations in Ino80b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Ino80b APN 6 83,101,129 (GRCm39) missense probably damaging 1.00
IGL02063:Ino80b APN 6 83,101,143 (GRCm39) missense probably damaging 0.99
R0310:Ino80b UTSW 6 83,101,072 (GRCm39) missense probably damaging 1.00
R2022:Ino80b UTSW 6 83,101,353 (GRCm39) missense probably damaging 0.98
R4051:Ino80b UTSW 6 83,099,314 (GRCm39) missense probably damaging 1.00
R4052:Ino80b UTSW 6 83,099,314 (GRCm39) missense probably damaging 1.00
R4114:Ino80b UTSW 6 83,101,121 (GRCm39) missense probably benign 0.00
R4207:Ino80b UTSW 6 83,099,314 (GRCm39) missense probably damaging 1.00
R4208:Ino80b UTSW 6 83,099,314 (GRCm39) missense probably damaging 1.00
R4751:Ino80b UTSW 6 83,101,731 (GRCm39) missense probably damaging 0.99
R5023:Ino80b UTSW 6 83,102,023 (GRCm39) missense probably damaging 1.00
R6298:Ino80b UTSW 6 83,102,066 (GRCm39) missense possibly damaging 0.92
R6467:Ino80b UTSW 6 83,101,112 (GRCm39) splice site probably null
R7024:Ino80b UTSW 6 83,099,306 (GRCm39) missense probably benign 0.03
R8816:Ino80b UTSW 6 83,098,861 (GRCm39) missense probably damaging 0.98
R9238:Ino80b UTSW 6 83,102,314 (GRCm39) unclassified probably benign
X0023:Ino80b UTSW 6 83,098,933 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CAGATTACTGTCTTCATCTGGGTG -3'
(R):5'- ATTCAGTAGCAGGTGGGCTG -3'

Sequencing Primer
(F):5'- ACTGTCTTCATCTGGGTGGGAAAG -3'
(R):5'- CTGGGTCCAAGTTAAGGCAGC -3'
Posted On 2017-08-16