Incidental Mutation 'IGL02063:Ino80b'
ID185502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ino80b
Ensembl Gene ENSMUSG00000030034
Gene NameINO80 complex subunit B
SynonymsPapa1, Znhit4, 2510009I23Rik, HMG1YL4, Hmga1l4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.300) question?
Stock #IGL02063
Quality Score
Status
Chromosome6
Chromosomal Location83121765-83125431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83124162 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 141 (D141E)
Ref Sequence ENSEMBL: ENSMUSP00000109568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032109] [ENSMUST00000032111] [ENSMUST00000113935] [ENSMUST00000113936] [ENSMUST00000143814] [ENSMUST00000146328] [ENSMUST00000151393] [ENSMUST00000205023]
Predicted Effect probably damaging
Transcript: ENSMUST00000032109
AA Change: D111E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034
AA Change: D111E

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: D141E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034
AA Change: D141E

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: ENSMUST00000131939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142493
Predicted Effect probably benign
Transcript: ENSMUST00000143814
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: 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: ENSMUST00000203069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203085
Predicted Effect probably benign
Transcript: ENSMUST00000205023
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,648,322 Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,016,023 R24G probably damaging Het
BC005624 A G 2: 30,978,934 M76T probably benign Het
Blm G T 7: 80,509,419 S323* probably null Het
Card19 C A 13: 49,203,131 G181* probably null Het
Cilp2 T C 8: 69,882,865 I494M probably damaging Het
Col5a2 A G 1: 45,403,419 probably null Het
Col6a4 T C 9: 106,057,418 D1431G probably benign Het
Cped1 G A 6: 22,138,702 C560Y probably damaging Het
Cyfip1 T C 7: 55,926,348 S1091P probably damaging Het
Ddx24 A G 12: 103,418,202 I466T probably damaging Het
Dlg2 T A 7: 91,810,476 probably benign Het
Esf1 C A 2: 140,164,457 D257Y possibly damaging Het
Fgfr2 A G 7: 130,167,755 F634S probably damaging Het
Flywch2 A G 17: 23,777,107 probably benign Het
Gbp10 A T 5: 105,236,040 I32N possibly damaging Het
Gli3 A G 13: 15,726,372 D1448G possibly damaging Het
Gm10335 T C 10: 14,523,403 probably benign Het
Gm5724 T C 6: 141,738,889 D280G probably benign Het
Golga5 A T 12: 102,472,159 E44D probably benign Het
H2-M10.1 C T 17: 36,324,009 probably benign Het
Itpr3 A G 17: 27,120,023 I2593V probably benign Het
Krt73 C T 15: 101,795,769 probably benign Het
Loxl4 G T 19: 42,608,339 L78I probably benign Het
Mbd5 A T 2: 49,274,767 N360I probably damaging Het
Nfat5 A T 8: 107,361,818 M495L probably benign Het
Nrxn3 A T 12: 88,795,795 E204V possibly damaging Het
Olfr1053 G T 2: 86,314,793 F164L possibly damaging Het
Paqr4 A T 17: 23,739,912 C38* probably null Het
Pcdhb13 T A 18: 37,444,229 N553K probably damaging Het
Pcdhb9 T A 18: 37,401,757 M268K probably benign Het
Pdap1 A T 5: 145,135,059 probably benign Het
Phf2 A T 13: 48,821,642 Y281N unknown Het
Phka2 T A X: 160,564,213 I664N possibly damaging Het
Plekha7 A T 7: 116,140,701 D762E possibly damaging Het
Plekhg4 T A 8: 105,379,252 probably benign Het
Ppfia2 A T 10: 106,904,845 Q1006L probably null Het
Pramef8 C A 4: 143,417,851 Q256K probably benign Het
Prmt5 G A 14: 54,511,020 Q197* probably null Het
Prodh A T 16: 18,079,185 probably null Het
Rnft2 A G 5: 118,242,522 probably benign Het
Rp1l1 G T 14: 64,029,536 S857I probably damaging Het
Samd9l A G 6: 3,372,992 F1423S probably damaging Het
Scn3a A G 2: 65,461,510 Y1631H probably damaging Het
Slc22a5 A T 11: 53,875,073 I229K probably damaging Het
Snd1 T A 6: 28,526,221 probably benign Het
Srrm1 G T 4: 135,347,207 probably null Het
Syne2 T C 12: 76,052,100 V5252A probably damaging Het
Tek A G 4: 94,739,645 D2G probably benign Het
Uba1 T C X: 20,679,725 S803P probably damaging Het
Uggt2 A G 14: 119,089,193 I202T possibly damaging Het
Umodl1 A T 17: 30,987,914 I760F probably benign Het
Vgll1 A G X: 57,099,209 probably benign Het
Zadh2 T A 18: 84,095,265 Y355* probably null Het
Zfp236 A G 18: 82,658,151 V347A probably benign Het
Zswim9 T C 7: 13,260,681 E516G probably damaging Het
Other mutations in Ino80b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Ino80b APN 6 83124148 missense probably damaging 1.00
R0310:Ino80b UTSW 6 83124091 missense probably damaging 1.00
R2022:Ino80b UTSW 6 83124372 missense probably damaging 0.98
R4051:Ino80b UTSW 6 83122333 missense probably damaging 1.00
R4052:Ino80b UTSW 6 83122333 missense probably damaging 1.00
R4114:Ino80b UTSW 6 83124140 missense probably benign 0.00
R4207:Ino80b UTSW 6 83122333 missense probably damaging 1.00
R4208:Ino80b UTSW 6 83122333 missense probably damaging 1.00
R4751:Ino80b UTSW 6 83124750 missense probably damaging 0.99
R5023:Ino80b UTSW 6 83125042 missense probably damaging 1.00
R6111:Ino80b UTSW 6 83124366 missense probably damaging 1.00
R6298:Ino80b UTSW 6 83125085 missense possibly damaging 0.92
R6467:Ino80b UTSW 6 83124131 unclassified probably null
X0023:Ino80b UTSW 6 83121952 missense possibly damaging 0.95
Posted On2014-05-07