Incidental Mutation 'R7445:Chaf1a'
ID577260
Institutional Source Beutler Lab
Gene Symbol Chaf1a
Ensembl Gene ENSMUSG00000002835
Gene Namechromatin assembly factor 1, subunit A (p150)
SynonymsCAF-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7445 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location56040416-56068026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56062170 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 467 (D467G)
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 possibly damaging
Transcript: ENSMUST00000002914
AA Change: D467G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: D467G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,619 S233T probably damaging Het
1700034E13Rik T A 18: 52,660,481 C29S probably damaging Het
1700061G19Rik G A 17: 56,882,973 R333Q possibly damaging Het
9130409I23Rik A G 1: 181,055,012 N113S possibly damaging Het
Ank3 A G 10: 69,992,124 T2208A Het
Ap4s1 T C 12: 51,738,641 L132P probably damaging Het
Ascl4 C T 10: 85,928,500 R4C probably benign Het
Brd7 A T 8: 88,361,708 Y18N probably damaging Het
Cacna2d3 A G 14: 29,058,618 S648P possibly damaging Het
Camta1 C T 4: 151,144,291 E695K possibly damaging Het
Ccdc28b A G 4: 129,622,607 F53L probably benign Het
Cnnm1 G A 19: 43,440,821 R126H possibly damaging Het
Cog5 T G 12: 31,919,672 S730R possibly damaging Het
Col11a1 A T 3: 114,193,929 E1374D unknown Het
Csmd1 A G 8: 16,158,254 I1229T possibly damaging Het
Dnajc30 T C 5: 135,064,378 L43P probably damaging Het
Eif3f C T 7: 108,934,658 T76M unknown Het
Ermap G A 4: 119,188,710 T42I unknown Het
Gpd1l C T 9: 114,920,674 G25S probably damaging Het
Heatr1 G T 13: 12,431,038 W1632L possibly damaging Het
Ice1 T C 13: 70,596,167 D29G Het
Ipo8 T C 6: 148,789,817 D685G probably benign Het
Klra10 T C 6: 130,275,856 T152A probably benign Het
Lmntd1 T A 6: 145,429,967 S82C probably damaging Het
Maip1 T C 1: 57,407,031 S87P possibly damaging Het
Mapkapk2 A G 1: 131,097,519 S3P unknown Het
Mei4 A G 9: 81,890,239 Y35C possibly damaging Het
Ms4a14 T G 19: 11,302,972 K741Q probably benign Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Ncapg2 A G 12: 116,419,268 I240V possibly damaging Het
Ncbp1 T A 4: 46,149,914 M145K probably damaging Het
Nmur2 A G 11: 56,032,940 F263L probably damaging Het
Ntrk2 A G 13: 58,846,762 E164G probably benign Het
Olfr48 T A 2: 89,844,272 T234S probably damaging Het
Olfr705 A G 7: 106,873,342 L301S possibly damaging Het
Olfr785 A T 10: 129,409,885 D173V probably benign Het
P3h2 T A 16: 25,985,065 Y317F probably damaging Het
Pcmtd1 C T 1: 7,120,420 R38C probably damaging Het
Pcyox1 T C 6: 86,391,679 T286A possibly damaging Het
Pdxk T C 10: 78,447,967 D131G probably benign Het
Ppl T C 16: 5,089,068 D1121G probably damaging Het
Prkra T C 2: 76,633,598 D240G probably benign Het
Ptgs1 C A 2: 36,245,210 N395K probably benign Het
Ptprq A T 10: 107,590,959 Y1572N probably damaging Het
Pyroxd1 A T 6: 142,358,501 H326L probably benign Het
Rapgef5 A G 12: 117,755,969 D778G probably benign Het
Rbm46 T A 3: 82,864,210 E366V probably damaging Het
Rnd1 G T 15: 98,670,669 H209Q probably benign Het
Rnf122 A T 8: 31,118,500 D32V possibly damaging Het
Samd4b G A 7: 28,406,456 P446S probably benign Het
Slco1a5 C A 6: 142,259,008 A187S possibly damaging Het
Smarca4 G A 9: 21,686,247 V1436M probably damaging Het
Smok2a G A 17: 13,226,639 G368R possibly damaging Het
Smok3c T A 5: 138,064,495 H81Q probably damaging Het
Soga3 T C 10: 29,197,003 S764P possibly damaging Het
Stk16 T C 1: 75,213,652 V245A probably damaging Het
Svep1 A T 4: 58,094,122 N1505K possibly damaging Het
Tigd4 G A 3: 84,595,164 A463T probably benign Het
Tmem117 T C 15: 94,714,918 F112L probably benign Het
Tmem72 A G 6: 116,698,330 I67T probably benign Het
Tnik A G 3: 28,663,909 probably null Het
Trav14-2 A G 14: 53,641,058 Q66R probably damaging Het
Trpv6 T A 6: 41,621,342 D677V probably damaging Het
Vgll4 C T 6: 114,862,196 S278N unknown Het
Wdfy4 C T 14: 33,070,618 W2157* probably null Het
Other mutations in Chaf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Chaf1a APN 17 56063336 missense possibly damaging 0.75
IGL01318:Chaf1a APN 17 56059336 splice site probably benign
IGL01344:Chaf1a APN 17 56064104 missense probably damaging 1.00
IGL02740:Chaf1a APN 17 56067500 missense probably damaging 1.00
IGL03328:Chaf1a APN 17 56063374 missense probably damaging 1.00
R0077:Chaf1a UTSW 17 56047384 missense unknown
R0318:Chaf1a UTSW 17 56062227 missense possibly damaging 0.73
R0945:Chaf1a UTSW 17 56067441 missense probably damaging 1.00
R1370:Chaf1a UTSW 17 56064032 missense probably benign 0.31
R1520:Chaf1a UTSW 17 56047302 missense unknown
R1641:Chaf1a UTSW 17 56047380 missense unknown
R1669:Chaf1a UTSW 17 56063339 missense probably benign 0.45
R1955:Chaf1a UTSW 17 56047540 missense unknown
R2139:Chaf1a UTSW 17 56065226 missense probably damaging 1.00
R2879:Chaf1a UTSW 17 56044114 critical splice donor site probably null
R4258:Chaf1a UTSW 17 56056474 missense unknown
R4303:Chaf1a UTSW 17 56044068 missense unknown
R4577:Chaf1a UTSW 17 56065184 missense probably damaging 1.00
R5254:Chaf1a UTSW 17 56062606 missense probably benign 0.19
R5260:Chaf1a UTSW 17 56065000 missense probably damaging 1.00
R5976:Chaf1a UTSW 17 56064115 missense probably damaging 1.00
R6746:Chaf1a UTSW 17 56063404 missense possibly damaging 0.77
R6799:Chaf1a UTSW 17 56047059 missense unknown
R7327:Chaf1a UTSW 17 56062573 missense probably benign 0.00
R7565:Chaf1a UTSW 17 56064148 missense probably benign 0.00
R7782:Chaf1a UTSW 17 56062291 missense probably benign 0.02
R7864:Chaf1a UTSW 17 56047339 missense unknown
R8313:Chaf1a UTSW 17 56044109 missense unknown
R9035:Chaf1a UTSW 17 56064110 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTAGCTCCCTTTGGCCACTATG -3'
(R):5'- GGAAATGGTGACTGTTGGACTC -3'

Sequencing Primer
(F):5'- TTTGGCCACTATGCAGCAG -3'
(R):5'- CTGTTGGACTCAGCAGCATAG -3'
Posted On2019-10-07