Incidental Mutation 'IGL00562:Chaf1b'
ID277770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chaf1b
Ensembl Gene ENSMUSG00000022945
Gene Namechromatin assembly factor 1, subunit B (p60)
Synonyms2600017H24Rik, CAF1P60, CAF1A, MPHOSPH7, CAF1, CAF-I 60 kDa subunit, CAF-IP60, CAF-1 subunit B
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock #IGL00562
Quality Score
Status
Chromosome16
Chromosomal Location93883901-93906115 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 93900191 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000143006]
Predicted Effect probably benign
Transcript: ENSMUST00000023666
SMART Domains Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945

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 benign
Transcript: ENSMUST00000117099
SMART Domains Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945

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 noncoding transcript
Transcript: ENSMUST00000128316
Predicted Effect probably benign
Transcript: ENSMUST00000143006
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Chaf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Chaf1b UTSW 16 93887124 missense possibly damaging 0.52
R0309:Chaf1b UTSW 16 93884511 missense probably damaging 0.96
R0690:Chaf1b UTSW 16 93900017 splice site probably benign
R1494:Chaf1b UTSW 16 93888110 missense probably damaging 1.00
R1572:Chaf1b UTSW 16 93901230 missense possibly damaging 0.77
R1595:Chaf1b UTSW 16 93905099 critical splice donor site probably null
R1654:Chaf1b UTSW 16 93894903 missense probably damaging 0.97
R2057:Chaf1b UTSW 16 93894907 missense probably damaging 1.00
R2280:Chaf1b UTSW 16 93891571 missense probably damaging 1.00
R2406:Chaf1b UTSW 16 93900155 missense probably damaging 0.99
R2655:Chaf1b UTSW 16 93891511 missense probably damaging 0.99
R4522:Chaf1b UTSW 16 93901295 missense probably benign 0.05
R4605:Chaf1b UTSW 16 93888089 missense possibly damaging 0.90
R4686:Chaf1b UTSW 16 93884584 missense probably benign 0.00
R4784:Chaf1b UTSW 16 93884542 missense probably damaging 1.00
R4862:Chaf1b UTSW 16 93887134 missense probably damaging 0.99
R5603:Chaf1b UTSW 16 93892795 missense probably damaging 1.00
R5683:Chaf1b UTSW 16 93887142 missense possibly damaging 0.90
R6763:Chaf1b UTSW 16 93891505 missense probably damaging 1.00
R6940:Chaf1b UTSW 16 93905965 missense probably benign 0.00
Posted On2015-04-16