Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Dffb'

678541

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

068701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154048904-154059578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154057416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 87 (D87G)

Ref Sequence

ENSEMBL: ENSMUSP00000151699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000047497] [ENSMUST00000133607]

AlphaFold

O54788

Predicted Effect

probably benign
Transcript: ENSMUST00000030893
AA Change: D87G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: D87G

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: ENSMUST00000047497

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523

Domain	Start	End	E-Value	Type
coiled coil region	222	249	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC
low complexity region	307	320	N/A	INTRINSIC
SCOP:d1gw5b_	523	646	3e-5	SMART
coiled coil region	688	730	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133607
AA Change: D87G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219093

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	probably 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
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
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'- ACATACCTTCAAACCAGGATGGG -3'
(R):5'- AGACCAAGTGTGCTGCTTTTC -3'

Sequencing Primer
(F):5'- GGATGGGTCCTGCTCCC -3'
(R):5'- CCAAGTGTGCTGCTTTTCTAGGATAC -3'

Posted On

2021-08-02