Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Chaf1a'

155981

Institutional Source

Beutler Lab

Gene Symbol

Chaf1a

Ensembl Gene

ENSMUSG00000002835

Gene Name

chromatin assembly factor 1, subunit A (p150)

Synonyms

CAF-1

MMRRC Submission

039434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1370 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

56040416-56068026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56064032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 639 (H639L)

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 benign
Transcript: ENSMUST00000002914
AA Change: H639L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: H639L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019722

SMART Domains

Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
Pfam:PUB	168	255	1.6e-27	PFAM
UBX	329	410	1.03e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151943

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052 (GRCm38)	G495D	probably damaging	Het
Adgra3	T	C	5: 49,960,787 (GRCm38)	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,227,770 (GRCm38)		probably null	Het
Afap1	A	G	5: 35,935,600 (GRCm38)	D16G	unknown	Het
AI593442	T	C	9: 52,678,008 (GRCm38)	K90E	probably damaging	Het
Aicda	A	T	6: 122,561,185 (GRCm38)	N101Y	probably benign	Het
Alx1	A	G	10: 103,028,492 (GRCm38)	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,388,696 (GRCm38)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912 (GRCm38)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655 (GRCm38)	W14*	probably null	Het
Bin1	A	G	18: 32,429,703 (GRCm38)	I416V	probably benign	Het
Bptf	A	T	11: 107,047,094 (GRCm38)	S2724T	probably damaging	Het
Brf1	A	T	12: 112,961,108 (GRCm38)		probably null	Het
Ccdc39	T	C	3: 33,826,480 (GRCm38)	K446R	probably damaging	Het
Cd226	T	A	18: 89,247,023 (GRCm38)	S29T	probably benign	Het
Cdan1	A	G	2: 120,719,139 (GRCm38)		probably null	Het
Chd1	G	A	17: 17,387,480 (GRCm38)	G430D	probably benign	Het
Ciao3	A	G	17: 25,776,988 (GRCm38)	E62G	probably benign	Het
Clca3a2	T	C	3: 144,813,863 (GRCm38)		probably benign	Het
Clptm1	A	G	7: 19,633,872 (GRCm38)	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,471,452 (GRCm38)	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,692,658 (GRCm38)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956 (GRCm38)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854 (GRCm38)		probably benign	Het
Dennd4c	T	A	4: 86,811,510 (GRCm38)	I783N	probably damaging	Het
Dock10	A	G	1: 80,540,343 (GRCm38)	S1305P	probably damaging	Het
Eml6	T	G	11: 29,833,085 (GRCm38)	S599R	probably benign	Het
Gbp8	C	T	5: 105,016,576 (GRCm38)	A394T	possibly damaging	Het
H1f10	A	G	6: 87,981,151 (GRCm38)	I69T	probably damaging	Het
Herc2	T	A	7: 56,168,873 (GRCm38)	C2771S	probably benign	Het
Ism1	A	T	2: 139,732,074 (GRCm38)	I115F	possibly damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itgb8	C	T	12: 119,171,003 (GRCm38)	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584 (GRCm38)	I1274F	possibly damaging	Het
Klk11	A	G	7: 43,776,907 (GRCm38)	I22V	probably benign	Het
Krt6b	T	C	15: 101,677,552 (GRCm38)	D362G	probably damaging	Het
Lce1e	A	G	3: 92,707,843 (GRCm38)	S66P	unknown	Het
Letm1	A	T	5: 33,778,682 (GRCm38)		probably null	Het
Lrrcc1	G	T	3: 14,548,114 (GRCm38)	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420 (GRCm38)		probably null	Het
Mrpl12	A	G	11: 120,485,301 (GRCm38)	S46G	probably benign	Het
Ndrg3	T	C	2: 156,938,650 (GRCm38)	E198G	probably damaging	Het
Or5ac16	A	G	16: 59,201,680 (GRCm38)	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,468,301 (GRCm38)	I521T	probably benign	Het
Pdzph1	T	C	17: 58,974,087 (GRCm38)	D400G	possibly damaging	Het
Per2	A	T	1: 91,445,557 (GRCm38)	S170T	possibly damaging	Het
Pramel25	T	A	4: 143,795,304 (GRCm38)	L497I	possibly damaging	Het
Pros1	A	G	16: 62,919,558 (GRCm38)	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624 (GRCm38)	M156L	probably benign	Het
Rerg	A	T	6: 137,057,801 (GRCm38)		probably benign	Het
Sel1l3	G	T	5: 53,200,217 (GRCm38)	H144Q	possibly damaging	Het
Septin2	G	T	1: 93,499,106 (GRCm38)	V146L	probably damaging	Het
Setd1b	C	T	5: 123,160,685 (GRCm38)		probably benign	Het
Sh3bp4	A	T	1: 89,143,772 (GRCm38)	Y114F	probably benign	Het
Slc44a5	C	A	3: 154,243,159 (GRCm38)	T188K	probably benign	Het
Slco6d1	A	C	1: 98,423,094 (GRCm38)	I100L	probably benign	Het
Slfn4	G	T	11: 83,188,806 (GRCm38)	D441Y	probably damaging	Het
Smg1	T	C	7: 118,159,752 (GRCm38)		probably benign	Het
Snrpb2	A	G	2: 143,065,166 (GRCm38)		probably benign	Het
Sspo	T	A	6: 48,448,626 (GRCm38)	S60R	probably benign	Het
Stard9	T	C	2: 120,697,477 (GRCm38)	V1405A	probably benign	Het
Syt1	A	G	10: 108,690,922 (GRCm38)	L42P	probably damaging	Het
Tarbp1	T	C	8: 126,448,330 (GRCm38)	D789G	probably benign	Het
Tbcel	A	T	9: 42,450,062 (GRCm38)	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,458,054 (GRCm38)		probably benign	Het
Tiam1	A	T	16: 89,898,221 (GRCm38)	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,437,664 (GRCm38)		probably benign	Het
Tsga10	G	T	1: 37,835,453 (GRCm38)	T117K	probably damaging	Het
Ttc3	A	G	16: 94,418,637 (GRCm38)	S492G	possibly damaging	Het
Ttn	G	T	2: 76,847,151 (GRCm38)		probably benign	Het
Wasf3	T	C	5: 146,470,208 (GRCm38)		probably benign	Het
Zbtb37	C	T	1: 161,032,022 (GRCm38)	E238K	probably benign	Het
Zfp354c	A	G	11: 50,815,840 (GRCm38)	I136T	probably benign	Het
Zfp384	G	A	6: 125,036,453 (GRCm38)	A479T	probably benign	Het
Zfp646	T	A	7: 127,879,864 (GRCm38)	N404K	probably damaging	Het

Other mutations in Chaf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Chaf1a	APN	17	56,063,336 (GRCm38)	missense	possibly damaging	0.75
IGL01318:Chaf1a	APN	17	56,059,336 (GRCm38)	splice site	probably benign
IGL01344:Chaf1a	APN	17	56,064,104 (GRCm38)	missense	probably damaging	1.00
IGL02740:Chaf1a	APN	17	56,067,500 (GRCm38)	missense	probably damaging	1.00
IGL03328:Chaf1a	APN	17	56,063,374 (GRCm38)	missense	probably damaging	1.00
R0077:Chaf1a	UTSW	17	56,047,384 (GRCm38)	missense	unknown
R0318:Chaf1a	UTSW	17	56,062,227 (GRCm38)	missense	possibly damaging	0.73
R0945:Chaf1a	UTSW	17	56,067,441 (GRCm38)	missense	probably damaging	1.00
R1520:Chaf1a	UTSW	17	56,047,302 (GRCm38)	missense	unknown
R1641:Chaf1a	UTSW	17	56,047,380 (GRCm38)	missense	unknown
R1669:Chaf1a	UTSW	17	56,063,339 (GRCm38)	missense	probably benign	0.45
R1955:Chaf1a	UTSW	17	56,047,540 (GRCm38)	missense	unknown
R2139:Chaf1a	UTSW	17	56,065,226 (GRCm38)	missense	probably damaging	1.00
R2879:Chaf1a	UTSW	17	56,044,114 (GRCm38)	critical splice donor site	probably null
R4258:Chaf1a	UTSW	17	56,056,474 (GRCm38)	missense	unknown
R4303:Chaf1a	UTSW	17	56,044,068 (GRCm38)	missense	unknown
R4577:Chaf1a	UTSW	17	56,065,184 (GRCm38)	missense	probably damaging	1.00
R5254:Chaf1a	UTSW	17	56,062,606 (GRCm38)	missense	probably benign	0.19
R5260:Chaf1a	UTSW	17	56,065,000 (GRCm38)	missense	probably damaging	1.00
R5976:Chaf1a	UTSW	17	56,064,115 (GRCm38)	missense	probably damaging	1.00
R6746:Chaf1a	UTSW	17	56,063,404 (GRCm38)	missense	possibly damaging	0.77
R6799:Chaf1a	UTSW	17	56,047,059 (GRCm38)	missense	unknown
R7327:Chaf1a	UTSW	17	56,062,573 (GRCm38)	missense	probably benign	0.00
R7445:Chaf1a	UTSW	17	56,062,170 (GRCm38)	missense	possibly damaging	0.85
R7565:Chaf1a	UTSW	17	56,064,148 (GRCm38)	missense	probably benign	0.00
R7782:Chaf1a	UTSW	17	56,062,291 (GRCm38)	missense	probably benign	0.02
R7864:Chaf1a	UTSW	17	56,047,339 (GRCm38)	missense	unknown
R8313:Chaf1a	UTSW	17	56,044,109 (GRCm38)	missense	unknown
R9035:Chaf1a	UTSW	17	56,064,110 (GRCm38)	missense	probably damaging	0.98
R9477:Chaf1a	UTSW	17	56,062,244 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGTTGTCTTTCGCTGTCGCATC -3'
(R):5'- ACTTGTGACCTCACTGAGGACACC -3'

Sequencing Primer
(F):5'- GCTGTCGCATCCTCCTATG -3'
(R):5'- TCACTGAGGACACCCTGATG -3'

Posted On

2014-02-11