Mutagenetix > Incidental Mutations

Incidental Mutation 'R8313:Chaf1a'

641535

Institutional Source

Beutler Lab

Gene Symbol

Chaf1a

Ensembl Gene

ENSMUSG00000002835

Gene Name

chromatin assembly factor 1, subunit A (p150)

Synonyms

CAF-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56040416-56068026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56044109 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 30 (Q30K)

Ref Sequence

ENSEMBL: ENSMUSP00000002914 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

unknown
Transcript: ENSMUST00000002914
AA Change: Q30K

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: Q30K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl2	C	T	17: 79,852,604	W518*	probably null	Het
Atp13a2	G	A	4: 141,002,735	V646I	probably benign	Het
Bcar1	A	T	8: 111,713,638	F575I	probably benign	Het
Bpifa6	T	A	2: 153,989,258	L248*	probably null	Het
Ccdc38	T	C	10: 93,563,249	L193P	probably damaging	Het
Ch25h	A	C	19: 34,474,738	I130S	probably benign	Het
Dab2ip	T	C	2: 35,727,428	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,951,152	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,175,296	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,910,691	Q200R	probably benign	Het
Epx	C	T	11: 87,872,731	R221Q	possibly damaging	Het
Exosc7	T	C	9: 123,127,877	L109P	probably damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fbxo22	T	A	9: 55,221,060	F222I	probably damaging	Het
Fcgbp	A	G	7: 28,086,344	D402G	probably benign	Het
Foxr1	A	G	9: 44,436,054	V62A	probably damaging	Het
Gm2016	A	T	12: 87,876,994	D137V	unknown	Het
Gm8267	A	T	14: 44,724,058	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,439,209	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,696,312	F76S	probably damaging	Het
Gpr33	A	G	12: 52,024,124	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599	T1012I	probably benign	Het
Itga1	T	A	13: 114,966,584	T1104S	probably benign	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Lama1	A	G	17: 67,750,520	T530A		Het
Lysmd2	A	T	9: 75,625,758		probably benign	Het
Mdk	T	C	2: 91,930,833	K128E	unknown	Het
Mphosph8	AC	A	14: 56,678,605		probably null	Het
Muc16	A	C	9: 18,525,147	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423	T1100S	probably benign	Het
Mxra7	T	C	11: 116,804,550	Y176C	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Myo18b	A	G	5: 112,875,179	S116P	unknown	Het
Noc3l	A	G	19: 38,795,810	L543P	probably damaging	Het
Olfr1355	C	T	10: 78,879,336	P55S	probably benign	Het
Olfr192	C	T	16: 59,098,641	G117D	unknown	Het
Olfr250	T	A	9: 38,368,050	V168E	probably damaging	Het
Pkm	G	T	9: 59,668,619	R106L	probably benign	Het
Prkab2	G	T	3: 97,663,595	V112F	probably benign	Het
Prkaca	A	T	8: 83,990,522	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,689,850	V387A	probably benign	Het
Rad17	T	C	13: 100,624,566	T485A	probably benign	Het
Rita1	G	T	5: 120,609,651	T194K	possibly damaging	Het
Rogdi	C	A	16: 5,013,449		probably benign	Het
Senp5	T	C	16: 31,989,299	D379G	probably benign	Het
Slc4a4	A	G	5: 89,046,263	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,580,360		probably benign	Het
Tmem175	T	A	5: 108,643,209	S208R	probably benign	Het
Tmem237	A	T	1: 59,108,078	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 123,170,713	N575K	possibly damaging	Het
Trak2	A	T	1: 58,921,147	C232*	probably null	Het
Ubr3	A	G	2: 69,945,134	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn1r231	C	T	17: 20,890,027	V209I	probably benign	Het
Vmn1r80	T	C	7: 12,193,067	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,872,528	I48N	probably benign	Het
Vstm2a	T	A	11: 16,281,898	V231E	probably damaging	Het
Zfp108	A	C	7: 24,260,662	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,853,630	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,225,588	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,910,969	H464Y	probably benign	Het

Other mutations in Chaf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Chaf1a	APN	17	56063336	missense	possibly damaging	0.75
IGL01318:Chaf1a	APN	17	56059336	splice site	probably benign
IGL01344:Chaf1a	APN	17	56064104	missense	probably damaging	1.00
IGL02740:Chaf1a	APN	17	56067500	missense	probably damaging	1.00
IGL03328:Chaf1a	APN	17	56063374	missense	probably damaging	1.00
R0077:Chaf1a	UTSW	17	56047384	missense	unknown
R0318:Chaf1a	UTSW	17	56062227	missense	possibly damaging	0.73
R0945:Chaf1a	UTSW	17	56067441	missense	probably damaging	1.00
R1370:Chaf1a	UTSW	17	56064032	missense	probably benign	0.31
R1520:Chaf1a	UTSW	17	56047302	missense	unknown
R1641:Chaf1a	UTSW	17	56047380	missense	unknown
R1669:Chaf1a	UTSW	17	56063339	missense	probably benign	0.45
R1955:Chaf1a	UTSW	17	56047540	missense	unknown
R2139:Chaf1a	UTSW	17	56065226	missense	probably damaging	1.00
R2879:Chaf1a	UTSW	17	56044114	critical splice donor site	probably null
R4258:Chaf1a	UTSW	17	56056474	missense	unknown
R4303:Chaf1a	UTSW	17	56044068	missense	unknown
R4577:Chaf1a	UTSW	17	56065184	missense	probably damaging	1.00
R5254:Chaf1a	UTSW	17	56062606	missense	probably benign	0.19
R5260:Chaf1a	UTSW	17	56065000	missense	probably damaging	1.00
R5976:Chaf1a	UTSW	17	56064115	missense	probably damaging	1.00
R6746:Chaf1a	UTSW	17	56063404	missense	possibly damaging	0.77
R6799:Chaf1a	UTSW	17	56047059	missense	unknown
R7327:Chaf1a	UTSW	17	56062573	missense	probably benign	0.00
R7445:Chaf1a	UTSW	17	56062170	missense	possibly damaging	0.85
R7565:Chaf1a	UTSW	17	56064148	missense	probably benign	0.00
R7782:Chaf1a	UTSW	17	56062291	missense	probably benign	0.02
R7864:Chaf1a	UTSW	17	56047339	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCGGTTCAAGTGGACCAGA -3'
(R):5'- CGTGTAAGAAAAGTCCGGATAGTCA -3'

Sequencing Primer
(F):5'- TTCAAGTGGACCAGACAGCG -3'
(R):5'- AGTCCGGATAGTCACAGCTCAG -3'

Posted On

2020-07-28