Incidental Mutation 'R2406:Chaf1b'
ID 248029
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 040372-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R2406 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 93680801-93703003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93697043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 351 (I351T)
Ref Sequence ENSEMBL: ENSMUSP00000113684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000143006]
AlphaFold Q9D0N7
Predicted Effect probably damaging
Transcript: ENSMUST00000023666
AA Change: I351T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: I351T

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: I351T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: I351T

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
Meta Mutation Damage Score 0.7915 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 95% (42/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,352 (GRCm39) V230E probably damaging Het
Adam22 A T 5: 8,230,064 (GRCm39) probably benign Het
AW554918 A G 18: 25,473,344 (GRCm39) I180V possibly damaging Het
C9 T C 15: 6,512,780 (GRCm39) S301P possibly damaging Het
Cdc42bpb T C 12: 111,268,558 (GRCm39) Q1214R probably benign Het
Clip1 T C 5: 123,741,723 (GRCm39) E1177G probably damaging Het
Colgalt1 G A 8: 72,070,312 (GRCm39) C198Y probably damaging Het
Dennd4b C T 3: 90,182,795 (GRCm39) R871C probably damaging Het
Efcab3 A T 11: 104,611,457 (GRCm39) D433V probably benign Het
Eif4ebp1 A G 8: 27,763,362 (GRCm39) I52V probably damaging Het
Fbxw5 T C 2: 25,394,195 (GRCm39) I86T probably damaging Het
Gm10650 A G 3: 127,833,530 (GRCm39) noncoding transcript Het
Helz G A 11: 107,577,378 (GRCm39) A1910T unknown Het
Hsf2 C T 10: 57,373,642 (GRCm39) T70I probably damaging Het
Ifih1 A G 2: 62,437,447 (GRCm39) probably benign Het
Kdm2a T C 19: 4,372,546 (GRCm39) D933G probably damaging Het
Macc1 T C 12: 119,429,346 (GRCm39) I832T probably damaging Het
Mapk15 T C 15: 75,870,697 (GRCm39) S512P possibly damaging Het
Mybpc2 A T 7: 44,171,149 (GRCm39) I134N possibly damaging Het
Myh4 A G 11: 67,150,000 (GRCm39) E1853G probably damaging Het
Ncoa3 T C 2: 165,897,279 (GRCm39) V690A probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5b97 A G 19: 12,878,991 (GRCm39) V51A probably benign Het
Pacsin2 A T 15: 83,269,313 (GRCm39) probably benign Het
Piezo2 A T 18: 63,155,596 (GRCm39) L2416Q probably damaging Het
Pip5k1c T A 10: 81,144,858 (GRCm39) I233N probably damaging Het
Ptcd3 T C 6: 71,865,631 (GRCm39) D428G probably damaging Het
Ptprf T C 4: 118,126,501 (GRCm39) D84G possibly damaging Het
Rasgrf2 T C 13: 92,120,359 (GRCm39) D798G probably benign Het
Setd7 A G 3: 51,450,097 (GRCm39) Y110H probably damaging Het
Sgta T C 10: 80,887,081 (GRCm39) I61M possibly damaging Het
Shank1 A G 7: 44,006,376 (GRCm39) D2031G possibly damaging Het
Skint5 A G 4: 113,799,864 (GRCm39) Y88H probably damaging Het
Spata31f1a A T 4: 42,851,696 (GRCm39) D153E probably benign Het
Stox1 T C 10: 62,499,945 (GRCm39) I872V probably benign Het
Tmc4 A G 7: 3,674,025 (GRCm39) F385L probably benign Het
Top3a A G 11: 60,646,838 (GRCm39) F258L probably damaging Het
Ttn T C 2: 76,780,499 (GRCm39) Y1084C probably damaging Het
Ubtf A T 11: 102,199,528 (GRCm39) Y504* probably null Het
Wdfy3 T C 5: 102,036,125 (GRCm39) T2098A probably damaging Het
Wnk2 G T 13: 49,214,964 (GRCm39) T1194K possibly damaging Het
Zbtb40 T A 4: 136,725,879 (GRCm39) E560V probably benign 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
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
R8083:Chaf1b UTSW 16 93,691,630 (GRCm39) missense probably damaging 0.96
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'- AACTGGCTTTTAGTGACGTGAC -3'
(R):5'- CCCAGGTTCAGTGCTAAGAG -3'

Sequencing Primer
(F):5'- GGCTTTTAGTGACGTGACATCTCC -3'
(R):5'- CAGTGCTAAGAGTGGCTTCC -3'
Posted On 2014-11-11