Incidental Mutation 'R1494:Chaf1b'
ID 163842
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 039545-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R1494 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 93680801-93703003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93684998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 149 (V149E)
Ref Sequence ENSEMBL: ENSMUSP00000113684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000120586] [ENSMUST00000142316] [ENSMUST00000143006]
AlphaFold Q9D0N7
Predicted Effect probably damaging
Transcript: ENSMUST00000023666
AA Change: V149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: V149E

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: V149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: V149E

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: ENSMUST00000120586
SMART Domains Protein: ENSMUSP00000113420
Gene: ENSMUSG00000022945

DomainStartEndE-ValueType
WD40 3 45 4.95e0 SMART
WD40 55 94 4.44e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124313
Predicted Effect probably benign
Transcript: ENSMUST00000142316
SMART Domains Protein: ENSMUSP00000121034
Gene: ENSMUSG00000022945

DomainStartEndE-ValueType
Pfam:WD40 8 45 3.5e-4 PFAM
Blast:WD40 55 79 2e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232065
Meta Mutation Damage Score 0.6609 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Ano6 T C 15: 95,870,388 (GRCm39) S848P probably damaging Het
Atg3 C T 16: 44,992,123 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
C2cd5 A G 6: 142,987,072 (GRCm39) probably benign Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Ccnd3 A G 17: 47,909,033 (GRCm39) probably null Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gm37240 A T 3: 84,434,998 (GRCm39) Y104N probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I 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
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
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'- TATAGCCAGGGCTGACACATCTCC -3'
(R):5'- CGGGACCTGAGTTTCTCAAGCAAAG -3'

Sequencing Primer
(F):5'- ccttgaactcttctgcctcc -3'
(R):5'- ctaactgctctcacagaggac -3'
Posted On 2014-03-28