Incidental Mutation 'R9477:Chaf1a'
ID 715897
Institutional Source Beutler Lab
Gene Symbol Chaf1a
Ensembl Gene ENSMUSG00000002835
Gene Name chromatin assembly factor 1, subunit A
Synonyms CAF-1, p150
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9477 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56347416-56375026 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56369244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 492 (K492*)
Ref Sequence ENSEMBL: ENSMUSP00000002914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002914] [ENSMUST00000019722]
AlphaFold Q9QWF0
PDB Structure HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000002914
AA Change: K492*
SMART Domains Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: K492*

DomainStartEndE-ValueType
Pfam:CAF1-p150_N 1 210 3.8e-59 PFAM
low complexity region 263 286 N/A INTRINSIC
Pfam:CAF-1_p150 299 458 1e-49 PFAM
low complexity region 466 481 N/A INTRINSIC
Pfam:CAF1A 537 611 1.1e-25 PFAM
Pfam:CAF1-p150_C2 644 908 1.6e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019722
SMART Domains Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
Pfam:PUB 168 255 1.6e-27 PFAM
UBX 329 410 1.03e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A T 1: 89,765,485 (GRCm39) M618L probably benign Het
Anxa2r2 A T 13: 120,488,282 (GRCm39) I89N probably damaging Het
App C A 16: 84,853,392 (GRCm39) A229S unknown Het
B020011L13Rik G T 1: 117,728,903 (GRCm39) E137* probably null Het
BC034090 C T 1: 155,102,087 (GRCm39) G59E probably damaging Het
C1ra A G 6: 124,499,455 (GRCm39) D547G probably benign Het
Cdh2 A T 18: 16,755,212 (GRCm39) D774E probably damaging Het
Cdon A G 9: 35,403,201 (GRCm39) N1104D probably damaging Het
Cecr2 G A 6: 120,720,743 (GRCm39) probably null Het
Ces2b A T 8: 105,560,556 (GRCm39) N124Y probably damaging Het
Cfap61 A G 2: 145,985,032 (GRCm39) T959A probably benign Het
Clec14a A G 12: 58,314,620 (GRCm39) V334A probably benign Het
Col6a3 A G 1: 90,706,621 (GRCm39) I2771T unknown Het
Creb3 T C 4: 43,566,298 (GRCm39) L244P probably damaging Het
Crispld1 T C 1: 17,816,956 (GRCm39) V171A probably benign Het
Crmp1 T C 5: 37,446,182 (GRCm39) Y613H probably damaging Het
Csrnp3 G A 2: 65,852,819 (GRCm39) V416I probably benign Het
Dhrs1 A G 14: 55,976,868 (GRCm39) V272A probably benign Het
Dip2b T C 15: 99,936,784 (GRCm39) S32P probably damaging Het
Dpp10 G T 1: 123,304,370 (GRCm39) T510K possibly damaging Het
Dst A G 1: 34,205,292 (GRCm39) Y820C probably damaging Het
Efcab3 A T 11: 104,836,698 (GRCm39) H3562L unknown Het
Fam3c A T 6: 22,308,479 (GRCm39) M238K probably damaging Het
Fcgbpl1 T C 7: 27,852,265 (GRCm39) F1263L probably damaging Het
Fcrl2 A T 3: 87,159,803 (GRCm39) C484S probably damaging Het
Fsd1 T C 17: 56,295,720 (GRCm39) L97P possibly damaging Het
Gapdhs T C 7: 30,431,682 (GRCm39) I310V probably damaging Het
Gimap4 A T 6: 48,667,314 (GRCm39) N23I probably benign Het
Gpr21 T A 2: 37,408,386 (GRCm39) F311I probably damaging Het
Grm1 T C 10: 10,595,405 (GRCm39) E741G probably benign Het
Gsto2 G A 19: 47,864,911 (GRCm39) R148H probably benign Het
Gzmd A G 14: 56,368,813 (GRCm39) V27A probably benign Het
Hbp1 A G 12: 31,980,766 (GRCm39) C446R probably damaging Het
Hmcn2 A T 2: 31,286,031 (GRCm39) probably null Het
Ifi205 G A 1: 173,854,155 (GRCm39) T166I probably benign Het
Il23a T A 10: 128,133,922 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jag1 A T 2: 136,936,409 (GRCm39) C362S probably damaging Het
Jmjd1c A T 10: 66,993,734 (GRCm39) R72* probably null Het
Kcna6 A G 6: 126,716,361 (GRCm39) I176T probably damaging Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Mast1 T C 8: 85,638,779 (GRCm39) K1517E probably benign Het
Mbnl1 A G 3: 60,520,769 (GRCm39) D119G probably damaging Het
Mfsd8 A G 3: 40,785,057 (GRCm39) probably null Het
Mtus2 T G 5: 148,014,740 (GRCm39) V511G probably benign Het
Myot A C 18: 44,470,333 (GRCm39) Q103H probably benign Het
Nrip2 G A 6: 128,377,145 (GRCm39) D24N probably benign Het
Ntm T A 9: 29,322,922 (GRCm39) S33C probably benign Het
Nus1 C T 10: 52,294,001 (GRCm39) T55M possibly damaging Het
Or4c112 G A 2: 88,853,615 (GRCm39) T244I probably benign Het
Pik3cb C T 9: 98,922,973 (GRCm39) probably null Het
Pogk T C 1: 166,227,404 (GRCm39) N249S probably damaging Het
Pou1f1 C T 16: 65,320,503 (GRCm39) T66I possibly damaging Het
Ppp1r42 T G 1: 10,055,854 (GRCm39) K211N probably damaging Het
Ppp2r3d C A 9: 124,476,857 (GRCm38) D2Y Het
Prdm5 A T 6: 65,771,342 (GRCm39) N51I possibly damaging Het
Rif1 G A 2: 52,001,342 (GRCm39) A1599T probably benign Het
Sema3c G A 5: 17,921,981 (GRCm39) A520T Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Spice1 T A 16: 44,197,183 (GRCm39) N489K possibly damaging Het
Sptbn4 A G 7: 27,132,624 (GRCm39) M116T possibly damaging Het
Supt5 T A 7: 28,025,500 (GRCm39) N249Y probably damaging Het
Tex2 A G 11: 106,410,706 (GRCm39) probably null Het
Trhde T A 10: 114,338,980 (GRCm39) E610V probably benign Het
Trmt12 T C 15: 58,745,471 (GRCm39) S290P possibly damaging Het
Trpm2 C T 10: 77,747,224 (GRCm39) V1425M probably benign Het
Uaca T C 9: 60,778,108 (GRCm39) S832P probably benign Het
Vcan T A 13: 89,841,128 (GRCm39) D1472V probably damaging Het
Virma A G 4: 11,528,753 (GRCm39) E1330G probably damaging Het
Vmn1r125 T G 7: 21,006,261 (GRCm39) V53G possibly damaging Het
Vmn2r27 A T 6: 124,168,910 (GRCm39) I740N probably damaging Het
Vmn2r70 C T 7: 85,218,244 (GRCm39) C18Y possibly damaging Het
Zfp35 A G 18: 24,136,188 (GRCm39) I177M possibly damaging Het
Zfp532 T C 18: 65,777,428 (GRCm39) I895T probably benign Het
Zfp58 C A 13: 67,640,158 (GRCm39) C111F probably damaging Het
Other mutations in Chaf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Chaf1a APN 17 56,370,336 (GRCm39) missense possibly damaging 0.75
IGL01318:Chaf1a APN 17 56,366,336 (GRCm39) splice site probably benign
IGL01344:Chaf1a APN 17 56,371,104 (GRCm39) missense probably damaging 1.00
IGL02740:Chaf1a APN 17 56,374,500 (GRCm39) missense probably damaging 1.00
IGL03328:Chaf1a APN 17 56,370,374 (GRCm39) missense probably damaging 1.00
R0077:Chaf1a UTSW 17 56,354,384 (GRCm39) missense unknown
R0318:Chaf1a UTSW 17 56,369,227 (GRCm39) missense possibly damaging 0.73
R0945:Chaf1a UTSW 17 56,374,441 (GRCm39) missense probably damaging 1.00
R1370:Chaf1a UTSW 17 56,371,032 (GRCm39) missense probably benign 0.31
R1520:Chaf1a UTSW 17 56,354,302 (GRCm39) missense unknown
R1641:Chaf1a UTSW 17 56,354,380 (GRCm39) missense unknown
R1669:Chaf1a UTSW 17 56,370,339 (GRCm39) missense probably benign 0.45
R1955:Chaf1a UTSW 17 56,354,540 (GRCm39) missense unknown
R2139:Chaf1a UTSW 17 56,372,226 (GRCm39) missense probably damaging 1.00
R2879:Chaf1a UTSW 17 56,351,114 (GRCm39) critical splice donor site probably null
R4258:Chaf1a UTSW 17 56,363,474 (GRCm39) missense unknown
R4303:Chaf1a UTSW 17 56,351,068 (GRCm39) missense unknown
R4577:Chaf1a UTSW 17 56,372,184 (GRCm39) missense probably damaging 1.00
R5254:Chaf1a UTSW 17 56,369,606 (GRCm39) missense probably benign 0.19
R5260:Chaf1a UTSW 17 56,372,000 (GRCm39) missense probably damaging 1.00
R5976:Chaf1a UTSW 17 56,371,115 (GRCm39) missense probably damaging 1.00
R6746:Chaf1a UTSW 17 56,370,404 (GRCm39) missense possibly damaging 0.77
R6799:Chaf1a UTSW 17 56,354,059 (GRCm39) missense unknown
R7327:Chaf1a UTSW 17 56,369,573 (GRCm39) missense probably benign 0.00
R7445:Chaf1a UTSW 17 56,369,170 (GRCm39) missense possibly damaging 0.85
R7565:Chaf1a UTSW 17 56,371,148 (GRCm39) missense probably benign 0.00
R7782:Chaf1a UTSW 17 56,369,291 (GRCm39) missense probably benign 0.02
R7864:Chaf1a UTSW 17 56,354,339 (GRCm39) missense unknown
R8313:Chaf1a UTSW 17 56,351,109 (GRCm39) missense unknown
R9035:Chaf1a UTSW 17 56,371,110 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTCCTATTGCAGACCCTGGC -3'
(R):5'- AGGACTGTTCTTCCTGTTGC -3'

Sequencing Primer
(F):5'- CTGGCCGGTTCCTGTGGTAAG -3'
(R):5'- AAGGTGTGTCCCACAGTCCTATG -3'
Posted On 2022-06-15