Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Chaf1a'

305876

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chaf1a

Ensembl Gene

ENSMUSG00000002835

Gene Name

chromatin assembly factor 1, subunit A

Synonyms

CAF-1, p150

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

56347416-56375026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56374500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 896 (G896W)

Ref Sequence

ENSEMBL: ENSMUSP00000002914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002914] [ENSMUST00000019722] [ENSMUST00000139371]

AlphaFold

Q9QWF0

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002914
AA Change: G896W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: G896W

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

probably benign
Transcript: ENSMUST00000139371

SMART Domains

Protein: ENSMUSP00000120423
Gene: ENSMUSG00000019578

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:PUB	113	154	6.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153947

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	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
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
R9477:Chaf1a	UTSW	17	56,369,244 (GRCm39)	nonsense	probably null

Posted On

2015-04-16