Incidental Mutation 'R7401:Chaf1b'
ID 574202
Institutional Source Beutler Lab
Gene Symbol Chaf1b
Ensembl Gene ENSMUSG00000022945
Gene Name chromatin assembly factor 1, subunit B (p60)
Synonyms 2600017H24Rik, CAF1P60, CAF1A, MPHOSPH7, CAF1, CAF-I 60 kDa subunit, CAF-IP60, CAF-1 subunit B
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R7401 (G1)
Quality Score 179.009
Status Not validated
Chromosome 16
Chromosomal Location 93883901-93906115 bp(+) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 93884380 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000120586] [ENSMUST00000142316]
AlphaFold Q9D0N7
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 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 17,118,404 L152Q probably benign Het
Abcg3 A T 5: 104,966,774 N292K probably damaging Het
Adamts3 T A 5: 89,707,450 probably null Het
Adgrg7 T C 16: 56,742,418 N519D probably benign Het
Adsl A G 15: 80,962,782 H263R probably damaging Het
Ak9 A T 10: 41,423,004 D1567V unknown Het
Bscl2 T C 19: 8,846,550 F280L possibly damaging Het
Cacna1b T A 2: 24,679,294 T873S probably benign Het
Cacna1c T C 6: 119,052,708 probably null Het
Cast G T 13: 74,808,458 A18E unknown Het
Ccdc114 A C 7: 45,942,765 Q323P probably damaging Het
Cd207 A C 6: 83,677,848 probably benign Het
Cd79b A G 11: 106,312,852 S130P probably benign Het
Cfap52 A T 11: 67,949,633 N157K probably benign Het
Cfap57 C T 4: 118,614,931 V84I probably benign Het
Cntn1 A G 15: 92,317,989 I968V probably benign Het
Cntn5 C T 9: 9,833,461 V362I probably benign Het
Crem A G 18: 3,295,329 S80P probably damaging Het
Csnk1g3 C T 18: 53,930,318 T267I probably damaging Het
Cyth1 A T 11: 118,182,251 N274K possibly damaging Het
Dicer1 C T 12: 104,712,278 G594S probably benign Het
Enpp1 C T 10: 24,645,282 C849Y probably damaging Het
Fam193a A G 5: 34,465,635 E1189G possibly damaging Het
Fermt1 C A 2: 132,917,559 V426L probably benign Het
Fes A G 7: 80,378,776 probably null Het
Gm16486 T C 8: 70,717,272 I1337T probably benign Het
Gmeb1 C A 4: 132,225,774 L560F probably damaging Het
Hace1 T C 10: 45,670,626 L452P probably damaging Het
Hecw2 T A 1: 53,904,343 H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 80,098,329 probably benign Het
Il1r2 T A 1: 40,123,210 C338S probably damaging Het
Kcnb1 T C 2: 167,188,284 S114G probably damaging Het
Lce1c A T 3: 92,680,316 T17S unknown Het
Lhfpl4 C A 6: 113,176,666 L141F possibly damaging Het
Ms4a14 T C 19: 11,302,230 E988G possibly damaging Het
Naip5 T C 13: 100,219,696 Q1137R probably benign Het
Naip5 G T 13: 100,219,697 Q1137K not run Het
Neurod1 T A 2: 79,454,946 D31V probably benign Het
Neurod4 A G 10: 130,271,058 C116R probably damaging Het
Nisch A G 14: 31,206,580 V28A probably benign Het
Olfr1174-ps T G 2: 88,311,428 M123L probably benign Het
Olfr1245 A G 2: 89,575,105 V207A probably benign Het
Pabpc4l A T 3: 46,446,252 I319N probably damaging Het
Pabpc4l T A 3: 46,446,589 R207W probably damaging Het
Pcm1 G A 8: 41,309,531 D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 probably benign Het
Plxnc1 C T 10: 94,871,005 A557T probably benign Het
Prkdc T A 16: 15,648,738 V58D probably damaging Het
Prpf40a A G 2: 53,156,947 V259A probably benign Het
Psmd3 A T 11: 98,685,640 T123S probably benign Het
Ptgr2 G T 12: 84,292,329 probably benign Het
Ptprr A G 10: 116,048,236 H66R probably benign Het
Rftn2 A G 1: 55,194,242 probably null Het
Rsph14 T A 10: 75,029,796 E70V possibly damaging Het
Slc24a5 G A 2: 125,088,191 V471I probably benign Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Spag9 A T 11: 94,097,689 T862S probably benign Het
Ssbp2 T A 13: 91,690,883 D291E probably benign Het
Supt5 T C 7: 28,323,772 K329E probably damaging Het
Syne2 G T 12: 75,967,381 K3115N probably damaging Het
Tars A T 15: 11,392,009 L239* probably null Het
Tbxa2r T C 10: 81,332,791 Y105H probably benign Het
Tesk1 T A 4: 43,445,743 D265E probably damaging Het
Tril T C 6: 53,818,281 D652G possibly damaging Het
Tsga10 T C 1: 37,834,187 R204G probably null Het
Twnk A G 19: 45,011,780 D645G probably benign Het
Umodl1 A T 17: 30,998,148 D1118V probably damaging Het
Unc119 T C 11: 78,347,245 I83T probably benign Het
Unc80 T C 1: 66,646,415 W2233R possibly damaging Het
Vmn1r45 T A 6: 89,933,434 T185S possibly damaging Het
Vmn2r111 G T 17: 22,571,086 T313K possibly damaging Het
Wdr4 A G 17: 31,509,832 L123S probably damaging Het
Zfpm2 A G 15: 41,102,990 E957G possibly damaging Het
Other mutations in Chaf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Chaf1b APN 16 93900191 unclassified probably benign
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
R7862:Chaf1b UTSW 16 93888095 missense possibly damaging 0.90
R7980:Chaf1b UTSW 16 93884527 missense probably damaging 1.00
R8083:Chaf1b UTSW 16 93894742 missense probably damaging 0.96
R8841:Chaf1b UTSW 16 93905020 missense probably benign 0.00
R9387:Chaf1b UTSW 16 93892741 missense probably benign 0.28
R9467:Chaf1b UTSW 16 93884506 missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- ATGATAGCCAGTACTCCGGTACC -3'
(R):5'- TGTCCATTTACCCTGACGGC -3'

Sequencing Primer
(F):5'- GGTACCGGTCTCTGGGAC -3'
(R):5'- ATTTACCCTGACGGCGGTGTC -3'
Posted On 2019-09-13