Incidental Mutation 'IGL01318:Chaf1a'
ID73955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chaf1a
Ensembl Gene ENSMUSG00000002835
Gene Namechromatin assembly factor 1, subunit A (p150)
SynonymsCAF-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01318
Quality Score
Status
Chromosome17
Chromosomal Location56040416-56068026 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 56059336 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002914]
PDB Structure
HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000002914
SMART Domains Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835

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
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik T A X: 58,919,469 I196N probably damaging Het
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Htr5a T C 5: 27,842,744 V99A probably benign Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Milr1 G A 11: 106,765,245 A114T possibly damaging Het
Mogs G T 6: 83,118,577 V792F probably damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Uqcrfs1 A G 13: 30,540,921 I212T probably benign Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in Chaf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Chaf1a APN 17 56063336 missense possibly damaging 0.75
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
R7445:Chaf1a UTSW 17 56062170 missense possibly damaging 0.85
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
R7947:Chaf1a UTSW 17 56047339 missense unknown
Posted On2013-10-07