Incidental Mutation 'IGL02156:Asf1a'
ID 282245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asf1a
Ensembl Gene ENSMUSG00000019857
Gene Name anti-silencing function 1A histone chaperone
Synonyms 2310079C17Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02156
Quality Score
Status
Chromosome 10
Chromosomal Location 53473057-53485321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53482239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 17 (A17V)
Ref Sequence ENSEMBL: ENSMUSP00000151729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020004] [ENSMUST00000075540] [ENSMUST00000219271] [ENSMUST00000219282] [ENSMUST00000219838]
AlphaFold Q9CQE6
Predicted Effect probably benign
Transcript: ENSMUST00000020004
AA Change: A87V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020004
Gene: ENSMUSG00000019857
AA Change: A87V

DomainStartEndE-ValueType
Pfam:ASF1_hist_chap 1 154 7.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

DomainStartEndE-ValueType
low complexity region 22 44 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 81 111 N/A INTRINSIC
MCM 268 761 9.44e-116 SMART
AAA 500 649 2.43e-6 SMART
coiled coil region 789 817 N/A INTRINSIC
low complexity region 884 895 N/A INTRINSIC
low complexity region 1004 1028 N/A INTRINSIC
low complexity region 1045 1056 N/A INTRINSIC
low complexity region 1199 1216 N/A INTRINSIC
low complexity region 1219 1232 N/A INTRINSIC
low complexity region 1246 1255 N/A INTRINSIC
low complexity region 1262 1276 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000218025
AA Change: A50V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218043
Predicted Effect probably benign
Transcript: ENSMUST00000218549
Predicted Effect probably benign
Transcript: ENSMUST00000219271
AA Change: A17V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000219282
AA Change: A17V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000219841
Predicted Effect probably benign
Transcript: ENSMUST00000219838
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 protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die at midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,566 (GRCm39) noncoding transcript Het
Adam33 G A 2: 130,895,078 (GRCm39) probably benign Het
Akr7a5 C A 4: 139,041,580 (GRCm39) A163D probably damaging Het
Arap1 T C 7: 101,037,937 (GRCm39) probably benign Het
Atp1a4 A T 1: 172,085,529 (GRCm39) S25T probably benign Het
Cbln4 T C 2: 171,884,128 (GRCm39) I31V probably benign Het
Ccdc93 T G 1: 121,376,005 (GRCm39) L172R possibly damaging Het
Ceacam9 T C 7: 16,457,544 (GRCm39) probably benign Het
Crhr1 C A 11: 104,054,709 (GRCm39) N107K probably benign Het
Cyp11b1 T A 15: 74,707,646 (GRCm39) M488L probably benign Het
Dnah7a A G 1: 53,458,882 (GRCm39) V3752A probably benign Het
Dnhd1 G A 7: 105,370,951 (GRCm39) V4744M probably damaging Het
Dstyk C A 1: 132,377,664 (GRCm39) N423K probably benign Het
Exph5 T C 9: 53,286,941 (GRCm39) S1341P probably damaging Het
Fam161b T C 12: 84,401,527 (GRCm39) H409R probably benign Het
Fbxo21 A G 5: 118,132,733 (GRCm39) probably benign Het
Flt1 A G 5: 147,618,551 (GRCm39) I230T probably damaging Het
Gm9931 T C 1: 147,157,366 (GRCm39) noncoding transcript Het
Grk6 T C 13: 55,597,174 (GRCm39) F36L possibly damaging Het
Grm1 G T 10: 10,595,720 (GRCm39) A636D probably damaging Het
Hectd1 A T 12: 51,800,916 (GRCm39) probably benign Het
Hltf G A 3: 20,146,971 (GRCm39) V577I possibly damaging Het
Hrob C T 11: 102,145,865 (GRCm39) S47F probably damaging Het
Lrrc8c A G 5: 105,755,359 (GRCm39) D378G probably damaging Het
Mcoln1 C A 8: 3,562,657 (GRCm39) S6* probably null Het
Meis1 A T 11: 18,961,292 (GRCm39) S194T probably benign Het
Myo1h A C 5: 114,491,972 (GRCm39) probably benign Het
Nop9 T A 14: 55,990,740 (GRCm39) C557* probably null Het
Nrap T C 19: 56,309,432 (GRCm39) D1619G probably damaging Het
Or10d1c T A 9: 38,893,842 (GRCm39) Y166F possibly damaging Het
Or4f61 A T 2: 111,922,361 (GRCm39) H228Q probably benign Het
Or7g34 A G 9: 19,478,494 (GRCm39) M59T probably damaging Het
Pard3b T A 1: 61,807,109 (GRCm39) D41E possibly damaging Het
Parp14 G T 16: 35,678,967 (GRCm39) Q334K probably benign Het
Phf3 A T 1: 30,847,859 (GRCm39) I1228K probably damaging Het
Polr1b T A 2: 128,965,799 (GRCm39) F814I probably benign Het
Prr5 A G 15: 84,654,236 (GRCm39) I306V possibly damaging Het
Rsph1 T G 17: 31,477,090 (GRCm39) S282R probably benign Het
Son T C 16: 91,452,992 (GRCm39) S580P possibly damaging Het
Sptbn5 G T 2: 119,878,098 (GRCm39) probably benign Het
Ssr2 T A 3: 88,491,095 (GRCm39) probably null Het
Tfpt A G 7: 3,632,039 (GRCm39) S24P probably damaging Het
Tg A G 15: 66,577,197 (GRCm39) T1507A probably benign Het
Trpm7 A G 2: 126,641,163 (GRCm39) probably benign Het
Wwox G A 8: 115,174,899 (GRCm39) probably null Het
Ythdf2 C T 4: 131,931,819 (GRCm39) R447H possibly damaging Het
Zfp385c A G 11: 100,519,845 (GRCm39) F368S probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zhx1 A C 15: 57,917,445 (GRCm39) V267G possibly damaging Het
Other mutations in Asf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Asf1a APN 10 53,482,227 (GRCm39) missense probably damaging 1.00
IGL02819:Asf1a APN 10 53,483,920 (GRCm39) missense probably benign
IGL02987:Asf1a APN 10 53,473,367 (GRCm39) missense probably damaging 1.00
R5499:Asf1a UTSW 10 53,482,266 (GRCm39) missense probably damaging 1.00
R7562:Asf1a UTSW 10 53,482,283 (GRCm39) nonsense probably null
Posted On 2015-04-16