Mutagenetix > Incidental Mutations

Incidental Mutation 'R0690:Chaf1b'

218538

Institutional Source

Beutler Lab

Gene Symbol

Chaf1b

Ensembl Gene

ENSMUSG00000022945

Gene Name

chromatin assembly factor 1, subunit B (p60)

Synonyms

2600017H24Rik, CAF1P60, CAF1A, MPHOSPH7, CAF1, CAF-I 60 kDa subunit, CAF-IP60, CAF-1 subunit B

MMRRC Submission

038875-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R0690 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93883901-93906115 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 93900017 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000143006]

Predicted Effect

probably benign
Transcript: ENSMUST00000023666

SMART Domains

Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945

Domain	Start	End	E-Value	Type
WD40	3	45	4.95e0	SMART
WD40	55	94	4.44e-6	SMART
WD40	118	157	3.78e-9	SMART
WD40	160	199	5.86e-6	SMART
Blast:WD40	219	258	5e-10	BLAST
WD40	274	338	2.84e2	SMART
WD40	344	381	5.13e0	SMART
Pfam:CAF-1_p60_C	388	564	2e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117099

SMART Domains

Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945

Domain	Start	End	E-Value	Type
WD40	3	45	4.95e0	SMART
WD40	55	94	4.44e-6	SMART
WD40	118	157	3.78e-9	SMART
WD40	160	199	5.86e-6	SMART
Blast:WD40	219	258	5e-10	BLAST
WD40	274	338	2.84e2	SMART
WD40	344	381	5.13e0	SMART
Pfam:CAF-1_p60_C	388	561	6.3e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128316

Predicted Effect

probably benign
Transcript: ENSMUST00000143006

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,969,808		probably benign	Het
Abi3	T	C	11: 95,833,634		probably benign	Het
Adam2	T	C	14: 66,057,646	N250S	probably damaging	Het
Agbl4	T	A	4: 111,657,388	I532K	probably benign	Het
Agrn	T	G	4: 156,174,453	E905A	probably damaging	Het
Ahi1	A	G	10: 20,970,843		probably benign	Het
Aifm2	A	G	10: 61,726,452	N89S	probably benign	Het
Arsj	C	T	3: 126,438,184	T193I	probably damaging	Het
Ascc2	T	A	11: 4,682,933	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,600,281	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,351,940	V56I	possibly damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Celsr2	C	A	3: 108,414,977	R173M	probably damaging	Het
Cfap57	A	G	4: 118,569,727		probably benign	Het
Cfap69	G	A	5: 5,663,951	T27I	probably damaging	Het
Cldn8	C	T	16: 88,562,639	V133M	probably damaging	Het
Col2a1	A	T	15: 97,980,192	V954E	unknown	Het
Col6a4	T	C	9: 106,028,187		probably benign	Het
Col6a6	T	C	9: 105,709,486	M1779V	probably benign	Het
Coq8b	A	G	7: 27,242,249	E253G	probably benign	Het
Ctse	T	C	1: 131,674,778		probably benign	Het
Cyp2c29	T	A	19: 39,309,726	N238K	probably benign	Het
Dcaf1	T	A	9: 106,846,649		probably benign	Het
Dcc	A	T	18: 71,809,204		probably benign	Het
Dkk1	A	G	19: 30,549,345	F12S	probably benign	Het
Dnah6	A	G	6: 73,129,474	V1760A	probably benign	Het
Fam117b	G	A	1: 59,958,353	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,367,646	M110K	probably damaging	Het
Frem3	T	A	8: 80,613,952	I958N	possibly damaging	Het
Gab1	T	A	8: 80,800,116	N118Y	probably damaging	Het
Gda	T	A	19: 21,409,887	I251L	probably benign	Het
Gli2	C	A	1: 118,844,460	R505L	probably damaging	Het
Gm5093	A	T	17: 46,439,738	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,048,015	S327L	probably benign	Het
Gpr156	T	A	16: 37,992,141	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071	Y790H	probably damaging	Het
Guf1	C	A	5: 69,566,352		probably null	Het
H6pd	T	C	4: 149,982,573	E452G	possibly damaging	Het
Herc1	T	A	9: 66,386,838	Y487*	probably null	Het
Ifi30	T	A	8: 70,764,949		probably benign	Het
Klf13	G	A	7: 63,938,071	A159V	possibly damaging	Het
Med11	T	A	11: 70,453,226	M124K	possibly damaging	Het
Myom3	A	G	4: 135,788,426		probably benign	Het
Nat2	A	T	8: 67,501,804	I189F	probably damaging	Het
Nhlrc4	C	G	17: 25,943,684	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,762,127	R173C	probably damaging	Het
Nox3	T	C	17: 3,695,564	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,629,542	N409S	probably benign	Het
Nucb2	T	C	7: 116,535,851		probably benign	Het
Olfr1105	A	G	2: 87,033,882	F113S	probably damaging	Het
Olfr541	T	C	7: 140,704,787	F179L	possibly damaging	Het
Olfr874	T	C	9: 37,746,217	F28L	probably benign	Het
Orai2	A	T	5: 136,161,599	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,394,442	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,653,976	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,391,097	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,876,082	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,586,905	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,727,642		probably benign	Het
Qrfpr	G	A	3: 36,189,559	T131M	probably damaging	Het
Rab33b	A	G	3: 51,493,417	Y104C	probably damaging	Het
Rad54l	G	T	4: 116,099,750		probably benign	Het
Rad9a	A	T	19: 4,197,360		probably null	Het
Slc1a5	A	T	7: 16,786,904	M233L	probably benign	Het
Slc47a2	C	T	11: 61,342,504	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,268,278	Y39F	probably benign	Het
Slfn5	T	C	11: 82,961,403	V785A	probably damaging	Het
Sp6	C	T	11: 97,021,544	P28S	possibly damaging	Het
Sptbn5	A	G	2: 120,062,675		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944		probably benign	Het
St8sia1	A	G	6: 142,829,254	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,800,695		probably benign	Het
Syne1	A	G	10: 5,033,138		probably benign	Het
Thbs3	T	A	3: 89,220,165	I371N	possibly damaging	Het
Tll1	C	T	8: 64,074,290	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,834	C114G	probably null	Het
Tmem25	C	T	9: 44,795,514		probably benign	Het
Tmem8b	T	C	4: 43,674,562	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,544,580	H18L	probably benign	Het
Trim63	A	G	4: 134,316,405	T60A	probably benign	Het
Trpv2	T	C	11: 62,584,676		probably null	Het
Ubr2	A	T	17: 46,938,653	I1591K	probably damaging	Het
Use1	A	T	8: 71,367,065		probably benign	Het
Zfp850	A	T	7: 27,985,217	C35S	possibly damaging	Het

Other mutations in Chaf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Chaf1b	APN	16	93900191	unclassified	probably benign
R0090:Chaf1b	UTSW	16	93887124	missense	possibly damaging	0.52
R0309:Chaf1b	UTSW	16	93884511	missense	probably damaging	0.96
R1494:Chaf1b	UTSW	16	93888110	missense	probably damaging	1.00
R1572:Chaf1b	UTSW	16	93901230	missense	possibly damaging	0.77
R1595:Chaf1b	UTSW	16	93905099	critical splice donor site	probably null
R1654:Chaf1b	UTSW	16	93894903	missense	probably damaging	0.97
R2057:Chaf1b	UTSW	16	93894907	missense	probably damaging	1.00
R2280:Chaf1b	UTSW	16	93891571	missense	probably damaging	1.00
R2406:Chaf1b	UTSW	16	93900155	missense	probably damaging	0.99
R2655:Chaf1b	UTSW	16	93891511	missense	probably damaging	0.99
R4522:Chaf1b	UTSW	16	93901295	missense	probably benign	0.05
R4605:Chaf1b	UTSW	16	93888089	missense	possibly damaging	0.90
R4686:Chaf1b	UTSW	16	93884584	missense	probably benign	0.00
R4784:Chaf1b	UTSW	16	93884542	missense	probably damaging	1.00
R4862:Chaf1b	UTSW	16	93887134	missense	probably damaging	0.99
R5603:Chaf1b	UTSW	16	93892795	missense	probably damaging	1.00
R5683:Chaf1b	UTSW	16	93887142	missense	possibly damaging	0.90
R6763:Chaf1b	UTSW	16	93891505	missense	probably damaging	1.00
R6940:Chaf1b	UTSW	16	93905965	missense	probably benign	0.00
R7401:Chaf1b	UTSW	16	93884380	start gained	probably benign
R7862:Chaf1b	UTSW	16	93888095	missense	possibly damaging	0.90
R7980:Chaf1b	UTSW	16	93884527	missense	probably damaging	1.00
R8083:Chaf1b	UTSW	16	93894742	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATTACTGGTCTGGCCTCATTCATGC -3'
(R):5'- ACTCACCAGGAAATGTCACTCAGGG -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- AATGTCACTCAGGGTATGGTAATG -3'

Posted On

2014-08-18