Incidental Mutation 'IGL00538:Asf1a'
ID 6105
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 # IGL00538
Quality Score
Status
Chromosome 10
Chromosomal Location 53473057-53485321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53482227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 13 (L13P)
Ref Sequence ENSEMBL: ENSMUSP00000151729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020004] [ENSMUST00000075540] [ENSMUST00000219271] [ENSMUST00000219282] [ENSMUST00000219838]
AlphaFold Q9CQE6
Predicted Effect probably damaging
Transcript: ENSMUST00000020004
AA Change: L83P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020004
Gene: ENSMUSG00000019857
AA Change: L83P

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: L46P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218043
Predicted Effect probably benign
Transcript: ENSMUST00000218549
Predicted Effect probably damaging
Transcript: ENSMUST00000219271
AA Change: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219282
AA Change: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219838
Predicted Effect probably benign
Transcript: ENSMUST00000219841
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 T A 5: 77,151,903 (GRCm39) M1K probably null Het
Atg2b T G 12: 105,611,175 (GRCm39) H1252P probably benign Het
Cacna2d1 C T 5: 16,451,783 (GRCm39) R216* probably null Het
Cdc42ep3 G A 17: 79,642,884 (GRCm39) A12V possibly damaging Het
Cntn3 G A 6: 102,397,223 (GRCm39) Q117* probably null Het
Cyp3a41b G A 5: 145,515,010 (GRCm39) probably benign Het
Dhx36 T C 3: 62,408,466 (GRCm39) E124G probably benign Het
Galnt7 T A 8: 58,005,556 (GRCm39) T226S possibly damaging Het
H2al3 T A X: 9,716,244 (GRCm39) probably benign Het
Ighv1-7 C A 12: 114,502,381 (GRCm39) E29* probably null Het
Iqcb1 G T 16: 36,678,948 (GRCm39) V421F probably benign Het
Lrrc8c G A 5: 105,755,076 (GRCm39) V284I probably damaging Het
Rpp14 G A 14: 8,083,934 (GRCm38) G30E possibly damaging Het
Samd9l A T 6: 3,376,779 (GRCm39) Y161N probably damaging Het
Slc14a1 A T 18: 78,147,288 (GRCm39) F313Y probably damaging Het
Taco1 T A 11: 105,962,805 (GRCm39) I164N probably damaging Het
Tenm3 G T 8: 48,689,060 (GRCm39) H2176N probably damaging Het
Tmem156 T C 5: 65,231,183 (GRCm39) Y165C probably damaging Het
Trpc7 A T 13: 56,921,622 (GRCm39) N731K possibly damaging Het
Ubox5 T C 2: 130,441,808 (GRCm39) N293S probably damaging Het
Other mutations in Asf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Asf1a APN 10 53,482,239 (GRCm39) missense probably benign 0.25
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 2012-04-20