Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Chaf1b'

20178

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

038377-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0090 (G1)

Quality Score

214

Status

Validated (trace)

Chromosome

Chromosomal Location

93680801-93703003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93684012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 88 (A88S)

Ref Sequence

ENSEMBL: ENSMUSP00000113420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023666] [ENSMUST00000117099] [ENSMUST00000120586] [ENSMUST00000142316]

AlphaFold

Q9D0N7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023666
AA Change: A88S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: A88S

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

possibly damaging
Transcript: ENSMUST00000117099
AA Change: A88S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: A88S

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

possibly damaging
Transcript: ENSMUST00000120586
AA Change: A88S

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113420
Gene: ENSMUSG00000022945
AA Change: A88S

Domain	Start	End	E-Value	Type
WD40	3	45	4.95e0	SMART
WD40	55	94	4.44e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124313

Predicted Effect

probably benign
Transcript: ENSMUST00000142316

SMART Domains

Protein: ENSMUSP00000121034
Gene: ENSMUSG00000022945

Domain	Start	End	E-Value	Type
Pfam:WD40	8	45	3.5e-4	PFAM
Blast:WD40	55	79	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232065

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		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
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
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'- CCCTGCTGGTGAAGAAGGGAGATT -3'
(R):5'- AGTAGGCACAGGCTTTAAGTTAGGTACA -3'

Sequencing Primer
(F):5'- ccaggctaacctcaaactcac -3'
(R):5'- cactcacacacacaacactc -3'

Posted On

2013-04-11