Mutagenetix > Incidental Mutation

Incidental Mutation 'R6799:Chaf1a'

533237

Institutional Source

Beutler Lab

Gene Symbol

Chaf1a

Ensembl Gene

ENSMUSG00000002835

Gene Name

chromatin assembly factor 1, subunit A

Synonyms

CAF-1, p150

MMRRC Submission

044912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56347416-56375026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56354059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 110 (I110F)

Ref Sequence

ENSEMBL: ENSMUSP00000002914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002914]

AlphaFold

Q9QWF0

PDB Structure

HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]

Predicted Effect

unknown
Transcript: ENSMUST00000002914
AA Change: I110F

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: I110F

Domain	Start	End	E-Value	Type
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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 144,981,624 (GRCm39)	Y153F	probably damaging	Het
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Albfm1	A	G	5: 90,727,474 (GRCm39)	H364R	probably damaging	Het
Anapc1	C	G	2: 128,501,657 (GRCm39)	R795T	probably null	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Arhgap26	A	G	18: 39,232,660 (GRCm39)	N96D	probably damaging	Het
Asxl3	G	T	18: 22,598,457 (GRCm39)	E191*	probably null	Het
Cc2d2b	A	G	19: 40,779,652 (GRCm39)	E697G	possibly damaging	Het
Clca4b	A	T	3: 144,621,388 (GRCm39)		probably null	Het
Dagla	C	A	19: 10,234,214 (GRCm39)	V366L	probably damaging	Het
Dapk1	A	G	13: 60,900,049 (GRCm39)	N878S	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dhx38	A	G	8: 110,279,834 (GRCm39)	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Dtymk	A	G	1: 93,726,214 (GRCm39)	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,346,178 (GRCm39)	M30V	probably benign	Het
Egfr	G	A	11: 16,846,952 (GRCm39)	C783Y	probably damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,453,998 (GRCm39)	R49S	probably damaging	Het
Fcsk	T	C	8: 111,620,050 (GRCm39)	M276V	probably benign	Het
Gm8797	A	T	3: 5,816,027 (GRCm39)	T22S	probably benign	Het
Hao1	T	C	2: 134,372,685 (GRCm39)	S108G	probably damaging	Het
Hdac4	C	A	1: 91,929,935 (GRCm39)	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,579,553 (GRCm39)		probably benign	Het
Hivep2	C	T	10: 14,004,757 (GRCm39)	R452C	probably benign	Het
Hsdl1	T	C	8: 120,293,169 (GRCm39)	S68G	probably benign	Het
Kctd20	T	C	17: 29,182,351 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,705,638 (GRCm39)	V364A	possibly damaging	Het
Kpna6	A	G	4: 129,551,247 (GRCm39)	L86P	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,611,045 (GRCm39)	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,314,248 (GRCm39)	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 63,923,630 (GRCm39)	C512*	probably null	Het
Mfsd1	T	C	3: 67,507,314 (GRCm39)	I405T	probably damaging	Het
Msc	T	G	1: 14,825,491 (GRCm39)	D161A	probably damaging	Het
Mttp	T	C	3: 137,800,841 (GRCm39)	I755V	probably benign	Het
Ncam1	T	C	9: 49,419,911 (GRCm39)	T803A	probably damaging	Het
Nlrp14	A	G	7: 106,795,346 (GRCm39)	I210V	probably benign	Het
Npat	A	T	9: 53,462,930 (GRCm39)	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,189,703 (GRCm39)	I329T	possibly damaging	Het
Or10v5	T	A	19: 11,806,178 (GRCm39)	I71F	possibly damaging	Het
Or51q1c	T	A	7: 103,648,006 (GRCm39)		probably null	Het
Or8b35	T	C	9: 37,904,478 (GRCm39)	L230P	possibly damaging	Het
Parm1	C	T	5: 91,742,070 (GRCm39)	T146I	possibly damaging	Het
Parp2	T	C	14: 51,058,553 (GRCm39)	Y528H	probably damaging	Het
Pias1	G	T	9: 62,789,334 (GRCm39)	S624R	probably benign	Het
Ppif	A	G	14: 25,696,488 (GRCm39)	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Psg20	A	G	7: 18,418,345 (GRCm39)	Y141H	probably benign	Het
Pygm	A	T	19: 6,448,157 (GRCm39)	Y733F	probably damaging	Het
Rcc1l	A	T	5: 134,205,552 (GRCm39)	M1K	probably null	Het
Rfpl4b	T	C	10: 38,697,341 (GRCm39)	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Scn5a	A	C	9: 119,324,688 (GRCm39)	I1380S	possibly damaging	Het
Sel1l	A	G	12: 91,781,742 (GRCm39)		probably null	Het
Slc18a1	T	A	8: 69,493,633 (GRCm39)	I400L	probably benign	Het
Slc30a3	A	G	5: 31,246,958 (GRCm39)	S73P	probably damaging	Het
Slc9a5	A	T	8: 106,090,600 (GRCm39)	N685I	possibly damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,520,824 (GRCm39)		probably null	Het
Ttyh1	G	T	7: 4,136,221 (GRCm39)		probably null	Het
Tyms	A	T	5: 30,266,069 (GRCm39)	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,803,798 (GRCm39)	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,651,426 (GRCm39)	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,659,555 (GRCm39)	P100S	probably damaging	Het
Zfp128	A	T	7: 12,624,826 (GRCm39)	H398L	possibly damaging	Het

Other mutations in Chaf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9477:Chaf1a	UTSW	17	56,369,244 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACGCCTGAACCTTGTTCCC -3'
(R):5'- TCCTCTTCCATGTGACAAGTG -3'

Sequencing Primer
(F):5'- CTTGTTCCCAAGGAGAAAGTTG -3'
(R):5'- ACAAGTGATGTCTGAAGGGGTCTC -3'

Posted On

2018-09-12