Mutagenetix > Incidental Mutation

Incidental Mutation 'R2057:Chaf1b'

228308

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

040062-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93680801-93703003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93691795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 280 (H280Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113684 (fasta)

Gene Model

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

AlphaFold

Q9D0N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023666
AA Change: H280Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: H280Q

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 damaging
Transcript: ENSMUST00000117099
AA Change: H280Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: H280Q

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: ENSMUST00000124313

Predicted Effect

probably benign
Transcript: ENSMUST00000143006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232065

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,806,477 (GRCm39)	K764E	probably damaging	Het
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apob	A	T	12: 8,052,164 (GRCm39)	R1202*	probably null	Het
Arfgap3	G	T	15: 83,194,501 (GRCm39)	D389E	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atoh8	T	C	6: 72,212,112 (GRCm39)	K13E	probably damaging	Het
Bicral	G	T	17: 47,135,814 (GRCm39)	N465K	possibly damaging	Het
Bves	T	A	10: 45,219,231 (GRCm39)	Y110N	probably damaging	Het
C4b	A	G	17: 34,947,594 (GRCm39)	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Caskin1	G	T	17: 24,715,433 (GRCm39)	G93V	probably damaging	Het
Cd34	T	C	1: 194,641,450 (GRCm39)	V292A	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdh16	C	A	8: 105,348,597 (GRCm39)	G144*	probably null	Het
Chpf2	G	A	5: 24,796,220 (GRCm39)	G389R	probably damaging	Het
Crb1	T	C	1: 139,242,488 (GRCm39)	Y330C	probably damaging	Het
Cux2	A	T	5: 122,007,567 (GRCm39)	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,947,430 (GRCm39)	V18A	unknown	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Enpp1	C	G	10: 24,536,090 (GRCm39)	A437P	probably damaging	Het
Fat2	C	T	11: 55,172,686 (GRCm39)	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,496,759 (GRCm39)	D401G	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gnai3	C	T	3: 108,019,812 (GRCm39)	V233I	probably benign	Het
Golim4	T	A	3: 75,802,194 (GRCm39)	D366V	possibly damaging	Het
Grin1	T	A	2: 25,206,832 (GRCm39)	T110S	probably damaging	Het
Grin2a	A	G	16: 9,487,608 (GRCm39)	V430A	probably benign	Het
Gstp3	G	A	19: 4,109,282 (GRCm39)	T5I	probably damaging	Het
Il17rb	T	A	14: 29,719,111 (GRCm39)	M324L	probably benign	Het
Jmy	A	G	13: 93,596,211 (GRCm39)	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Lmo7	G	C	14: 102,124,614 (GRCm39)	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,760,741 (GRCm39)	I107V	probably benign	Het
Mlkl	T	C	8: 112,060,242 (GRCm39)	Q48R	probably benign	Het
Myh2	G	A	11: 67,079,665 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,562,081 (GRCm39)	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,423 (GRCm39)	I86F	possibly damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Or1p1	A	G	11: 74,179,652 (GRCm39)	Y60C	probably damaging	Het
Or9r3	A	T	10: 129,947,859 (GRCm39)	S267T	probably benign	Het
Pak1	T	A	7: 97,557,004 (GRCm39)		probably null	Het
Parpbp	T	A	10: 87,960,824 (GRCm39)	M221L	probably benign	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Phf19	G	T	2: 34,789,620 (GRCm39)	R367S	probably benign	Het
Plcl2	A	G	17: 50,975,139 (GRCm39)		probably null	Het
Plxnb1	A	T	9: 108,938,294 (GRCm39)	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,339,059 (GRCm39)	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prpf40a	A	T	2: 53,034,851 (GRCm39)	I779K	probably damaging	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptpn20	A	T	14: 33,352,942 (GRCm39)	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088 (GRCm39)	R499C	probably benign	Het
Rarg	C	A	15: 102,147,939 (GRCm39)	A291S	probably damaging	Het
Rnf169	A	T	7: 99,574,615 (GRCm39)	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,226,550 (GRCm39)	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc35g2	G	A	9: 100,435,329 (GRCm39)	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,291,645 (GRCm39)	V211E	probably damaging	Het
Snrpn	A	T	7: 59,637,204 (GRCm39)	H37Q	possibly damaging	Het
Spock3	T	A	8: 63,698,204 (GRCm39)	C185*	probably null	Het
Tbc1d4	A	G	14: 101,714,591 (GRCm39)	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,592,653 (GRCm39)	T276A	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,776,742 (GRCm39)	L483P	probably damaging	Het
Tpte	T	A	8: 22,808,355 (GRCm39)	D163E	probably benign	Het
Trim36	A	T	18: 46,329,229 (GRCm39)	D70E	probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Wdr90	T	C	17: 26,074,173 (GRCm39)	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,046,210 (GRCm39)	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085 (GRCm39)	E291G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	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
R1595:Chaf1b	UTSW	16	93,701,987 (GRCm39)	critical splice donor site	probably null
R1654:Chaf1b	UTSW	16	93,691,791 (GRCm39)	missense	probably damaging	0.97
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'- AGCCGGATGTATGGAATCTGG -3'
(R):5'- AAGAACTCGATGTTTTCACAGC -3'

Sequencing Primer
(F):5'- TATGGAATCTGGTGAGAATGTGAC -3'
(R):5'- AAACCTGAGCCTGGTCTACTGAG -3'

Posted On

2014-09-17