Mutagenetix > Incidental Mutation

Incidental Mutation 'R3622:Dffb'

268663

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

040677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154048904-154059578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154049976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 296 (T296A)

Ref Sequence

ENSEMBL: ENSMUSP00000030893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000058393] [ENSMUST00000105645] [ENSMUST00000133607] [ENSMUST00000141493] [ENSMUST00000147826]

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 damaging
Transcript: ENSMUST00000030893
AA Change: T296A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: T296A

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: ENSMUST00000058393

SMART Domains

Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613

Domain	Start	End	E-Value	Type
Pfam:UPF0688	6	228	9.9e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133524

Predicted Effect

probably benign
Transcript: ENSMUST00000133607

Predicted Effect

probably benign
Transcript: ENSMUST00000141493

Predicted Effect

probably benign
Transcript: ENSMUST00000147826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219093

Meta Mutation Damage Score

0.7634

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,950,036 (GRCm39)	Y503*	probably null	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Dpf1	G	A	7: 29,015,631 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,759,925 (GRCm39)		probably null	Het
Grid2ip	T	C	5: 143,371,774 (GRCm39)	S666P	probably damaging	Het
Gucy2e	T	A	11: 69,115,877 (GRCm39)	E835V	probably damaging	Het
Hdac5	G	A	11: 102,086,644 (GRCm39)	P120S	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mga	A	G	2: 119,772,245 (GRCm39)	T1702A	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Muc5b	T	C	7: 141,405,595 (GRCm39)		probably benign	Het
Oma1	T	C	4: 103,223,288 (GRCm39)	I491T	probably benign	Het
Or1e30	A	G	11: 73,678,567 (GRCm39)	T268A	probably benign	Het
Or5ak24	C	T	2: 85,260,837 (GRCm39)	C112Y	probably benign	Het
Or5b107	T	A	19: 13,143,020 (GRCm39)	M214K	probably benign	Het
Or8b48	A	G	9: 38,492,792 (GRCm39)	Y73C	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Plin4	G	T	17: 56,411,112 (GRCm39)	T973K	possibly damaging	Het
R3hdm4	C	T	10: 79,748,515 (GRCm39)	R143H	possibly damaging	Het
Rps18	G	C	17: 34,171,247 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,374,032 (GRCm39)	C1076*	probably null	Het
Scml4	T	C	10: 42,806,607 (GRCm39)		probably benign	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Slc6a5	T	C	7: 49,567,371 (GRCm39)	V275A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Srsf9	C	T	5: 115,468,571 (GRCm39)	A69V	probably damaging	Het
Stfa2	A	G	16: 36,224,433 (GRCm39)	Y90H	probably damaging	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Tnrc6c	C	T	11: 117,640,451 (GRCm39)	R1414C	probably damaging	Het
Tyk2	A	T	9: 21,038,606 (GRCm39)	C8S	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Utp20	A	G	10: 88,593,855 (GRCm39)		probably benign	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r116	A	G	17: 23,605,025 (GRCm39)	S113G	probably benign	Het
Vps53	A	C	11: 76,008,609 (GRCm39)	V237G	probably benign	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
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
R6950:Dffb	UTSW	4	154,054,549 (GRCm39)	missense	probably benign
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'- TCACAGTGGCCAAGTTCAGC -3'
(R):5'- TGGTAGACACTGCATCCACAG -3'

Sequencing Primer
(F):5'- ATGAGCACCGGCACTGAC -3'
(R):5'- TGCATCCACAGACAGCGAGTG -3'

Posted On

2015-02-19