Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Dffb'

541204

Institutional Source

Beutler Lab

Gene Symbol

Dffb

Ensembl Gene

ENSMUSG00000029027

Gene Name

DNA fragmentation factor, beta subunit

Synonyms

Didff, caspase-activated DNase, CAD, 5730477D02Rik, CPAN, 40kDa, DFF40

MMRRC Submission

045062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154048904-154059578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154054549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 180 (M180K)

Ref Sequence

ENSEMBL: ENSMUSP00000030893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000133607]

AlphaFold

O54788

PDB Structure

NMR STRUCTURE OF THE CAD DOMAIN OF CASPASE-ACTIVATED DNASE [SOLUTION NMR]
NMR STRUCTURE OF THE HETERODIMERIC COMPLEX BETWEEN CAD DOMAINS OF CAD AND ICAD [SOLUTION NMR]
CRYSTAL STRUCTURE OF CASPASE-ACTIVATED DNASE (CAD) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000030893
AA Change: M180K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: M180K

Domain	Start	End	E-Value	Type
CAD	9	81	2.48e-41	SMART
Pfam:DFF40	103	324	9.4e-97	PFAM
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133607

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,229,480 (GRCm39)	V404D	probably damaging	Het
Adcy2	A	G	13: 69,036,184 (GRCm39)	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,598,080 (GRCm39)	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511 (GRCm38)	P403H	probably damaging	Het
Cav3	C	T	6: 112,449,171 (GRCm39)	T63I	probably damaging	Het
Ccr6	T	C	17: 8,475,898 (GRCm39)	*368Q	probably null	Het
Cdh8	A	T	8: 99,757,395 (GRCm39)	N734K	probably benign	Het
Ces5a	G	T	8: 94,257,402 (GRCm39)	N134K	probably benign	Het
Cisd3	T	G	11: 97,576,986 (GRCm39)		probably null	Het
Cyp4f39	T	G	17: 32,711,280 (GRCm39)	C476G	probably damaging	Het
Dock4	A	G	12: 40,783,313 (GRCm39)	E749G	possibly damaging	Het
Eogt	A	G	6: 97,111,343 (GRCm39)	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,072,108 (GRCm39)	T224S	probably benign	Het
Fam114a1	A	T	5: 65,137,322 (GRCm39)	E88D	possibly damaging	Het
Fbn2	A	C	18: 58,168,993 (GRCm39)	M2262R	probably null	Het
Fsip2	A	G	2: 82,816,332 (GRCm39)	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,574,257 (GRCm39)	V1301A	probably benign	Het
Gch1	A	T	14: 47,426,723 (GRCm39)	M1K	probably null	Het
Hes1	T	C	16: 29,886,089 (GRCm39)	F231S	probably damaging	Het
Hoxb2	A	G	11: 96,242,727 (GRCm39)	T31A	probably benign	Het
Ifngr1	T	A	10: 19,483,041 (GRCm39)	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,222,432 (GRCm39)	I58F	probably benign	Het
Igf2r	T	C	17: 12,937,605 (GRCm39)	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494 (GRCm39)	H214L	probably damaging	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Kmt2d	T	C	15: 98,737,901 (GRCm39)		probably benign	Het
Lratd2	T	C	15: 60,695,563 (GRCm39)	D61G	probably benign	Het
Lrrc36	G	T	8: 106,152,021 (GRCm39)		probably null	Het
Msl2	C	T	9: 100,979,174 (GRCm39)	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,156,011 (GRCm39)	I62F	probably damaging	Het
Neto2	G	T	8: 86,397,072 (GRCm39)	P60Q	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136 (GRCm39)	H61L	possibly damaging	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nutm1	T	A	2: 112,078,904 (GRCm39)	T1004S	probably benign	Het
Or4a78	T	A	2: 89,497,895 (GRCm39)	I112F	probably benign	Het
Or4z4	A	G	19: 12,076,754 (GRCm39)	V83A	probably benign	Het
Or8c17	A	T	9: 38,179,842 (GRCm39)	N3I	probably damaging	Het
Oxr1	C	A	15: 41,683,951 (GRCm39)	A439E	probably benign	Het
Phf14	A	T	6: 12,006,854 (GRCm39)	K835N	probably damaging	Het
Prkdc	T	A	16: 15,633,850 (GRCm39)	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,503,663 (GRCm39)	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,567,206 (GRCm39)	M1129K	probably benign	Het
Rgmb	T	C	17: 16,028,048 (GRCm39)	K224E	probably damaging	Het
Ryr3	T	C	2: 112,517,170 (GRCm39)	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,642,045 (GRCm39)	Y338C	probably damaging	Het
Smg5	T	C	3: 88,256,576 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,693,514 (GRCm39)	Y1789*	probably null	Het
Tgm7	T	C	2: 120,924,128 (GRCm39)	E598G	probably damaging	Het
Tiam1	C	T	16: 89,657,092 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,790,948 (GRCm39)	N166S	probably benign	Het
Trp73	G	T	4: 154,146,510 (GRCm39)	N368K	probably benign	Het
Trpc3	C	T	3: 36,692,739 (GRCm39)	R751H	probably damaging	Het
Trpm4	C	A	7: 44,968,704 (GRCm39)	A410S	probably damaging	Het
Ube2t	T	G	1: 134,899,095 (GRCm39)		probably null	Het
Vmn2r114	C	T	17: 23,529,137 (GRCm39)	A322T	probably benign	Het
Xylt2	C	T	11: 94,558,455 (GRCm39)	R567H	probably benign	Het
Zfp119b	T	C	17: 56,246,137 (GRCm39)	K318E	probably damaging	Het
Zfp626	T	G	7: 27,518,339 (GRCm39)	L440R	probably damaging	Het
Zfp850	A	G	7: 27,689,939 (GRCm39)	S90P	possibly damaging	Het

Other mutations in Dffb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Dffb	APN	4	154,050,073 (GRCm39)	unclassified	probably benign
R0243:Dffb	UTSW	4	154,049,835 (GRCm39)	nonsense	probably null
R0244:Dffb	UTSW	4	154,059,072 (GRCm39)	missense	probably benign	0.33
R2483:Dffb	UTSW	4	154,049,976 (GRCm39)	missense	probably damaging	1.00
R3622:Dffb	UTSW	4	154,049,976 (GRCm39)	missense	probably damaging	1.00
R3623:Dffb	UTSW	4	154,049,976 (GRCm39)	missense	probably damaging	1.00
R3624:Dffb	UTSW	4	154,049,976 (GRCm39)	missense	probably damaging	1.00
R4562:Dffb	UTSW	4	154,049,913 (GRCm39)	missense	probably damaging	1.00
R4912:Dffb	UTSW	4	154,049,864 (GRCm39)	unclassified	probably benign
R5015:Dffb	UTSW	4	154,057,416 (GRCm39)	missense	possibly damaging	0.84
R5986:Dffb	UTSW	4	154,050,050 (GRCm39)	missense	probably damaging	1.00
R7395:Dffb	UTSW	4	154,053,570 (GRCm39)	missense	probably damaging	1.00
R7986:Dffb	UTSW	4	154,054,504 (GRCm39)	missense	probably damaging	0.99
R8731:Dffb	UTSW	4	154,059,101 (GRCm39)	missense	possibly damaging	0.93
R8910:Dffb	UTSW	4	154,057,416 (GRCm39)	missense	possibly damaging	0.84
R9709:Dffb	UTSW	4	154,059,121 (GRCm39)	missense	probably damaging	1.00
Z1176:Dffb	UTSW	4	154,057,300 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTACTCTTAGTGGCCCCAG -3'
(R):5'- ATCTCGTGAGGCCAGAATGC -3'

Sequencing Primer
(F):5'- TCTTAGTGGCCCCAGAACAAAAGG -3'
(R):5'- CAGAATGCTTTTCCTAGGCAGTGAC -3'

Posted On

2018-11-28