Incidental Mutation 'IGL03172:Asf1b'
ID 411864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asf1b
Ensembl Gene ENSMUSG00000005470
Gene Name anti-silencing function 1B histone chaperone
Synonyms 1700003K02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03172
Quality Score
Status
Chromosome 8
Chromosomal Location 84682323-84696824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84694542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 102 (H102P)
Ref Sequence ENSEMBL: ENSMUSP00000005607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005607]
AlphaFold Q9DAP7
Predicted Effect probably benign
Transcript: ENSMUST00000005607
AA Change: H102P

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000005607
Gene: ENSMUSG00000005470
AA Change: H102P

DomainStartEndE-ValueType
Pfam:ASF1_hist_chap 1 154 1.2e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124913
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 member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice are viable and fertile and exhibit no overt abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Celf6 C T 9: 59,489,565 (GRCm39) A90V probably damaging Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 (GRCm39) F128L probably damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Ndufa2 A G 18: 36,877,278 (GRCm39) probably null Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Samd3 T A 10: 26,106,064 (GRCm39) V14E probably damaging Het
Slc4a8 G A 15: 100,697,598 (GRCm39) A605T probably benign Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R probably benign Het
Other mutations in Asf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Asf1b APN 8 84,682,533 (GRCm39) missense probably benign 0.01
IGL02504:Asf1b APN 8 84,682,458 (GRCm39) start codon destroyed probably null 0.99
contraire UTSW 8 84,682,540 (GRCm39) missense probably damaging 1.00
PIT4449001:Asf1b UTSW 8 84,694,611 (GRCm39) missense probably benign 0.01
R5156:Asf1b UTSW 8 84,682,540 (GRCm39) missense probably damaging 1.00
R5257:Asf1b UTSW 8 84,695,896 (GRCm39) missense probably benign
R5258:Asf1b UTSW 8 84,695,896 (GRCm39) missense probably benign
R7610:Asf1b UTSW 8 84,691,678 (GRCm39) missense probably damaging 0.97
R7936:Asf1b UTSW 8 84,695,848 (GRCm39) missense probably benign 0.00
R8300:Asf1b UTSW 8 84,695,805 (GRCm39) missense possibly damaging 0.83
R8375:Asf1b UTSW 8 84,694,559 (GRCm39) missense probably damaging 1.00
R9003:Asf1b UTSW 8 84,682,530 (GRCm39) nonsense probably null
Z1088:Asf1b UTSW 8 84,695,781 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02