Incidental Mutation 'R7610:Asf1b'
ID 588550
Institutional Source Beutler Lab
Gene Symbol Asf1b
Ensembl Gene ENSMUSG00000005470
Gene Name anti-silencing function 1B histone chaperone
Synonyms 1700003K02Rik
MMRRC Submission 045679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7610 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84682323-84696824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84691678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 43 (I43S)
Ref Sequence ENSEMBL: ENSMUSP00000005607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005607]
AlphaFold Q9DAP7
Predicted Effect probably damaging
Transcript: ENSMUST00000005607
AA Change: I43S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005607
Gene: ENSMUSG00000005470
AA Change: I43S

DomainStartEndE-ValueType
Pfam:ASF1_hist_chap 1 154 1.2e-74 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adtrp A G 13: 41,969,670 (GRCm39) F110L probably benign Het
Akap9 T G 5: 4,007,677 (GRCm39) D230E possibly damaging Het
Alg11 G A 8: 22,555,147 (GRCm39) R136H probably damaging Het
Ank3 A T 10: 69,822,252 (GRCm39) N307I Het
Ankrd17 A G 5: 90,380,222 (GRCm39) S2489P possibly damaging Het
Cdc37l1 G T 19: 28,985,132 (GRCm39) G261W possibly damaging Het
Cpped1 C A 16: 11,712,742 (GRCm39) probably null Het
Ctsk T C 3: 95,408,155 (GRCm39) F4L probably benign Het
D130043K22Rik A T 13: 25,059,985 (GRCm39) T619S probably benign Het
Ddx25 T A 9: 35,465,893 (GRCm39) L109F possibly damaging Het
Dhrs9 C A 2: 69,223,291 (GRCm39) A13D unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fam228a A G 12: 4,781,423 (GRCm39) probably null Het
Fancm T C 12: 65,152,454 (GRCm39) V970A probably damaging Het
Fcrl2 C A 3: 87,160,004 (GRCm39) V417F probably damaging Het
Fig4 C A 10: 41,129,709 (GRCm39) A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 (GRCm39) S608P probably damaging Het
Ggta1 C T 2: 35,304,230 (GRCm39) probably null Het
Grb10 T C 11: 11,893,955 (GRCm39) K377R probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Klf14 A G 6: 30,935,005 (GRCm39) S210P probably damaging Het
Mcm3ap A G 10: 76,332,554 (GRCm39) probably null Het
Mgrn1 T C 16: 4,752,097 (GRCm39) *533Q probably null Het
Mtarc2 A G 1: 184,551,483 (GRCm39) Y318H probably benign Het
Notch1 A T 2: 26,368,191 (GRCm39) H598Q probably benign Het
Nt5el T A 13: 105,247,695 (GRCm39) N338K probably damaging Het
Ntng1 A G 3: 109,842,141 (GRCm39) S211P probably damaging Het
Or13a21 A T 7: 139,999,466 (GRCm39) C73* probably null Het
Or8i2 A G 2: 86,852,141 (GRCm39) V249A possibly damaging Het
Pgm5 A C 19: 24,812,120 (GRCm39) N137K probably damaging Het
Plcb2 T A 2: 118,550,240 (GRCm39) N172I possibly damaging Het
Pramel26 A T 4: 143,539,436 (GRCm39) M19K probably damaging Het
Rab11fip1 G A 8: 27,642,064 (GRCm39) H912Y probably benign Het
Rgl1 A G 1: 152,428,371 (GRCm39) V251A probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Rhpn1 A G 15: 75,584,245 (GRCm39) T446A unknown Het
Rtn3 A G 19: 7,435,294 (GRCm39) S233P probably damaging Het
Rwdd1 A C 10: 33,877,134 (GRCm39) D203E probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slfn5 T C 11: 82,852,310 (GRCm39) L812P probably damaging Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Snrnp48 A G 13: 38,393,937 (GRCm39) R81G probably damaging Het
Syt17 A T 7: 118,033,682 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttc3 T C 16: 94,228,697 (GRCm39) I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Wdr54 C T 6: 83,129,839 (GRCm39) V305M possibly damaging Het
Xirp2 C T 2: 67,356,306 (GRCm39) T3689I possibly damaging Het
Zscan18 T C 7: 12,503,237 (GRCm39) K774R probably damaging 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
IGL03172:Asf1b APN 8 84,694,542 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TTAGGCCCACAGGAGAAATG -3'
(R):5'- TAGTATGTCAGGCCCTGATTCC -3'

Sequencing Primer
(F):5'- GCTCTTAATCAGGACTGTGGTGC -3'
(R):5'- TGATTCCATCTCCAGCCTGAAAC -3'
Posted On 2019-10-24