Incidental Mutation 'R8083:Chaf1b'
ID 629483
Institutional Source Beutler Lab
Gene Symbol Chaf1b
Ensembl Gene ENSMUSG00000022945
Gene Name chromatin assembly factor 1, subunit B
Synonyms MPHOSPH7, CAF1, CAF1A, CAF1P60, CAF-IP60, CAF-1 subunit B, CAF-I 60 kDa subunit, 2600017H24Rik
MMRRC Submission 067516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R8083 (G1)
Quality Score 181.009
Status Validated
Chromosome 16
Chromosomal Location 93680801-93703003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93691630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 255 (C255S)
Ref Sequence ENSEMBL: ENSMUSP00000023666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000143006]
AlphaFold Q9D0N7
Predicted Effect probably damaging
Transcript: ENSMUST00000023666
AA Change: C255S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: C255S

DomainStartEndE-ValueType
WD40 3 45 4.95e0 SMART
WD40 55 94 4.44e-6 SMART
WD40 118 157 3.78e-9 SMART
WD40 160 199 5.86e-6 SMART
Blast:WD40 219 258 5e-10 BLAST
WD40 274 338 2.84e2 SMART
WD40 344 381 5.13e0 SMART
Pfam:CAF-1_p60_C 388 564 2e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117099
AA Change: C255S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: C255S

DomainStartEndE-ValueType
WD40 3 45 4.95e0 SMART
WD40 55 94 4.44e-6 SMART
WD40 118 157 3.78e-9 SMART
WD40 160 199 5.86e-6 SMART
Blast:WD40 219 258 5e-10 BLAST
WD40 274 338 2.84e2 SMART
WD40 344 381 5.13e0 SMART
Pfam:CAF-1_p60_C 388 561 6.3e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143006
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,282,987 (GRCm39) E255G possibly damaging Het
Abcg5 A T 17: 84,965,971 (GRCm39) L635Q probably damaging Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adamtsl4 C T 3: 95,591,711 (GRCm39) V126M possibly damaging Het
Apobec1 G A 6: 122,555,888 (GRCm39) P190S probably damaging Het
Arel1 A T 12: 84,987,136 (GRCm39) H93Q probably benign Het
Bpifa2 T G 2: 153,852,412 (GRCm39) V96G probably damaging Het
Cacna1s G A 1: 136,023,529 (GRCm39) V923I possibly damaging Het
Caprin2 A C 6: 148,744,346 (GRCm39) Y1026* probably null Het
Cdk8 T G 5: 146,205,100 (GRCm39) W34G probably damaging Het
Cdkn3 A T 14: 47,000,058 (GRCm39) Q28L probably benign Het
Cfap58 A G 19: 47,971,957 (GRCm39) E629G probably damaging Het
Clcn4 A G 7: 7,294,427 (GRCm39) F445L possibly damaging Het
Cpne6 A C 14: 55,750,698 (GRCm39) I140L probably benign Het
Cyp2b23 C A 7: 26,385,828 (GRCm39) A10S possibly damaging Het
Eci3 G T 13: 35,140,873 (GRCm39) T103K probably benign Het
Eri3 T A 4: 117,450,359 (GRCm39) M253K probably damaging Het
Gm21103 C T 14: 17,482,895 (GRCm39) V169M possibly damaging Het
Gm6594 G A 17: 82,846,897 (GRCm39) A71T probably benign Het
Gns T C 10: 121,214,008 (GRCm39) S228P probably damaging Het
Hbegf A T 18: 36,648,224 (GRCm39) S46T probably benign Het
Hcn1 GCAACAACA GCAACAACAACA 13: 118,112,296 (GRCm39) probably benign Het
Mcf2l T A 8: 13,057,875 (GRCm39) probably null Het
Nfasc T C 1: 132,524,320 (GRCm39) D846G probably benign Het
Nt5dc2 A G 14: 30,856,783 (GRCm39) Y103C probably damaging Het
Osbpl9 C T 4: 108,943,572 (GRCm39) V147M possibly damaging Het
Pid1 T C 1: 84,015,970 (GRCm39) I146V probably benign Het
Rangap1 A G 15: 81,603,101 (GRCm39) I108T probably benign Het
Rbm12b1 T C 4: 12,146,409 (GRCm39) Y794H probably damaging Het
Rprd1b T C 2: 157,892,052 (GRCm39) S192P probably damaging Het
Sacs A T 14: 61,448,166 (GRCm39) D3404V possibly damaging Het
Setd5 G T 6: 113,091,971 (GRCm39) G264V probably damaging Het
Tagln2 A T 1: 172,332,766 (GRCm39) I18F possibly damaging Het
Tex51 T C 18: 32,591,807 (GRCm39) probably null Het
Ttc17 C A 2: 94,204,909 (GRCm39) V338F probably damaging Het
Xirp2 T A 2: 67,339,043 (GRCm39) M428K possibly damaging Het
Zfp503 A T 14: 22,036,132 (GRCm39) D261E probably damaging Het
Zfp784 T C 7: 5,038,905 (GRCm39) T218A possibly damaging Het
Zp3 A C 5: 136,013,376 (GRCm39) D236A probably damaging Het
Other mutations in Chaf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Chaf1b APN 16 93,697,079 (GRCm39) unclassified probably benign
R0090:Chaf1b UTSW 16 93,684,012 (GRCm39) missense possibly damaging 0.52
R0309:Chaf1b UTSW 16 93,681,399 (GRCm39) missense probably damaging 0.96
R0690:Chaf1b UTSW 16 93,696,905 (GRCm39) splice site probably benign
R1494:Chaf1b UTSW 16 93,684,998 (GRCm39) missense probably damaging 1.00
R1572:Chaf1b UTSW 16 93,698,118 (GRCm39) missense possibly damaging 0.77
R1595:Chaf1b UTSW 16 93,701,987 (GRCm39) critical splice donor site probably null
R1654:Chaf1b UTSW 16 93,691,791 (GRCm39) missense probably damaging 0.97
R2057:Chaf1b UTSW 16 93,691,795 (GRCm39) missense probably damaging 1.00
R2280:Chaf1b UTSW 16 93,688,459 (GRCm39) missense probably damaging 1.00
R2406:Chaf1b UTSW 16 93,697,043 (GRCm39) missense probably damaging 0.99
R2655:Chaf1b UTSW 16 93,688,399 (GRCm39) missense probably damaging 0.99
R4522:Chaf1b UTSW 16 93,698,183 (GRCm39) missense probably benign 0.05
R4605:Chaf1b UTSW 16 93,684,977 (GRCm39) missense possibly damaging 0.90
R4686:Chaf1b UTSW 16 93,681,472 (GRCm39) missense probably benign 0.00
R4784:Chaf1b UTSW 16 93,681,430 (GRCm39) missense probably damaging 1.00
R4862:Chaf1b UTSW 16 93,684,022 (GRCm39) missense probably damaging 0.99
R5603:Chaf1b UTSW 16 93,689,683 (GRCm39) missense probably damaging 1.00
R5683:Chaf1b UTSW 16 93,684,030 (GRCm39) missense possibly damaging 0.90
R6763:Chaf1b UTSW 16 93,688,393 (GRCm39) missense probably damaging 1.00
R6940:Chaf1b UTSW 16 93,702,853 (GRCm39) missense probably benign 0.00
R7401:Chaf1b UTSW 16 93,681,268 (GRCm39) start gained probably benign
R7862:Chaf1b UTSW 16 93,684,983 (GRCm39) missense possibly damaging 0.90
R7980:Chaf1b UTSW 16 93,681,415 (GRCm39) missense probably damaging 1.00
R8841:Chaf1b UTSW 16 93,701,908 (GRCm39) missense probably benign 0.00
R9387:Chaf1b UTSW 16 93,689,629 (GRCm39) missense probably benign 0.28
R9467:Chaf1b UTSW 16 93,681,394 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TTACAAGTGCAAAGCTCCTGGC -3'
(R):5'- AGCAAGAGTCGCTTTCCCAG -3'

Sequencing Primer
(F):5'- TTGGCGTCGTCACTCAGG -3'
(R):5'- TTTCCCAGGGCACGGAAGATG -3'
Posted On 2020-06-30