Incidental Mutation 'IGL02987:Asf1a'
ID406756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asf1a
Ensembl Gene ENSMUSG00000019857
Gene Nameanti-silencing function 1A histone chaperone
Synonyms2310079C17Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02987
Quality Score
Status
Chromosome10
Chromosomal Location53596757-53609225 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53597271 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 28 (F28L)
Ref Sequence ENSEMBL: ENSMUSP00000020004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020004] [ENSMUST00000075540] [ENSMUST00000219271] [ENSMUST00000219282] [ENSMUST00000219547] [ENSMUST00000220007]
Predicted Effect probably damaging
Transcript: ENSMUST00000020004
AA Change: F28L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020004
Gene: ENSMUSG00000019857
AA Change: F28L

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 noncoding transcript
Transcript: ENSMUST00000218043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218476
Predicted Effect probably benign
Transcript: ENSMUST00000219271
Predicted Effect probably benign
Transcript: ENSMUST00000219282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219533
Predicted Effect probably benign
Transcript: ENSMUST00000219547
Predicted Effect probably benign
Transcript: ENSMUST00000220007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220260
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dgkh A G 14: 78,589,872 probably null Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gfral A G 9: 76,197,301 V143A possibly damaging Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Khdc3 A G 9: 73,102,666 I53V possibly damaging Het
Lce1a1 T C 3: 92,647,102 T22A unknown Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc25a54 T C 3: 109,116,337 V416A probably benign Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign Het
Other mutations in Asf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Asf1a APN 10 53606131 missense probably damaging 1.00
IGL02156:Asf1a APN 10 53606143 missense probably benign 0.25
IGL02819:Asf1a APN 10 53607824 missense probably benign
R5499:Asf1a UTSW 10 53606170 missense probably damaging 1.00
Posted On2016-08-02