Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Chaf1b'

175763

Institutional Source

Beutler Lab

Gene Symbol

Chaf1b

Ensembl Gene

ENSMUSG00000022945

Gene Name

chromatin assembly factor 1, subunit B

Synonyms

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

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93680801-93703003 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 93701987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113684 (fasta)

Gene Model

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

AlphaFold

Q9D0N7

Predicted Effect

probably null
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 null
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

probably null
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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,153,944 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mfn2	T	C	4: 147,979,153 (GRCm39)	T60A	probably benign	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptchd3	T	A	11: 121,721,420 (GRCm39)	F98I	probably damaging	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,550,774 (GRCm39)		probably benign	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zfp512b	G	A	2: 181,230,229 (GRCm39)	T499I	probably damaging	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	probably benign	Het

Other mutations in Chaf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Chaf1b	APN	16	93,697,079 (GRCm39)	unclassified	probably benign
R0090:Chaf1b	UTSW	16	93,684,012 (GRCm39)	missense	possibly damaging	0.52
R0309:Chaf1b	UTSW	16	93,681,399 (GRCm39)	missense	probably damaging	0.96
R0690:Chaf1b	UTSW	16	93,696,905 (GRCm39)	splice site	probably benign
R1494:Chaf1b	UTSW	16	93,684,998 (GRCm39)	missense	probably damaging	1.00
R1572:Chaf1b	UTSW	16	93,698,118 (GRCm39)	missense	possibly damaging	0.77
R1654:Chaf1b	UTSW	16	93,691,791 (GRCm39)	missense	probably damaging	0.97
R2057:Chaf1b	UTSW	16	93,691,795 (GRCm39)	missense	probably damaging	1.00
R2280:Chaf1b	UTSW	16	93,688,459 (GRCm39)	missense	probably damaging	1.00
R2406:Chaf1b	UTSW	16	93,697,043 (GRCm39)	missense	probably damaging	0.99
R2655:Chaf1b	UTSW	16	93,688,399 (GRCm39)	missense	probably damaging	0.99
R4522:Chaf1b	UTSW	16	93,698,183 (GRCm39)	missense	probably benign	0.05
R4605:Chaf1b	UTSW	16	93,684,977 (GRCm39)	missense	possibly damaging	0.90
R4686:Chaf1b	UTSW	16	93,681,472 (GRCm39)	missense	probably benign	0.00
R4784:Chaf1b	UTSW	16	93,681,430 (GRCm39)	missense	probably damaging	1.00
R4862:Chaf1b	UTSW	16	93,684,022 (GRCm39)	missense	probably damaging	0.99
R5603:Chaf1b	UTSW	16	93,689,683 (GRCm39)	missense	probably damaging	1.00
R5683:Chaf1b	UTSW	16	93,684,030 (GRCm39)	missense	possibly damaging	0.90
R6763:Chaf1b	UTSW	16	93,688,393 (GRCm39)	missense	probably damaging	1.00
R6940:Chaf1b	UTSW	16	93,702,853 (GRCm39)	missense	probably benign	0.00
R7401:Chaf1b	UTSW	16	93,681,268 (GRCm39)	start gained	probably benign
R7862:Chaf1b	UTSW	16	93,684,983 (GRCm39)	missense	possibly damaging	0.90
R7980:Chaf1b	UTSW	16	93,681,415 (GRCm39)	missense	probably damaging	1.00
R8083:Chaf1b	UTSW	16	93,691,630 (GRCm39)	missense	probably damaging	0.96
R8841:Chaf1b	UTSW	16	93,701,908 (GRCm39)	missense	probably benign	0.00
R9387:Chaf1b	UTSW	16	93,689,629 (GRCm39)	missense	probably benign	0.28
R9467:Chaf1b	UTSW	16	93,681,394 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GAACATTGACTGTGGCTGTGATGC -3'
(R):5'- CAAACACAAGCTGTCATGAAGTGGG -3'

Sequencing Primer
(F):5'- GGAAATGAGTAGCTCTCTCTCTTTAC -3'
(R):5'- TGAAGTGGGGAGACCCATCC -3'

Posted On

2014-04-24