Mutagenetix > Incidental Mutation

Incidental Mutation 'R8475:Dbf4'

657214

Institutional Source

Beutler Lab

Gene Symbol

Dbf4

Ensembl Gene

ENSMUSG00000002297

Gene Name

DBF4 zinc finger

Synonyms

Ask

MMRRC Submission

067919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8446973-8472716 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 8448664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002368] [ENSMUST00000168500] [ENSMUST00000171808]

AlphaFold

Q9QZ41

Predicted Effect

probably benign
Transcript: ENSMUST00000002368

SMART Domains

Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Blast:BRCT	44	181	9e-85	BLAST
low complexity region	182	204	N/A	INTRINSIC
ZnF_DBF	287	334	7.09e-28	SMART
low complexity region	643	657	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129317
Gene: ENSMUSG00000002297
AA Change: V81A

Domain	Start	End	E-Value	Type
ZnF_DBF	19	66	7.09e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168500

SMART Domains

Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Pfam:BRCT	41	179	2e-7	PFAM
low complexity region	182	204	N/A	INTRINSIC
PDB:4F9C\|B	210	308	2e-42	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171808

SMART Domains

Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Blast:BRCT	44	181	9e-85	BLAST
low complexity region	182	204	N/A	INTRINSIC
ZnF_DBF	288	335	7.09e-28	SMART
low complexity region	644	658	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Adamts14	T	C	10: 61,038,666 (GRCm39)	E945G	probably damaging	Het
Adgrl3	T	C	5: 81,871,976 (GRCm39)	V958A	probably benign	Het
Adh6a	T	C	3: 138,030,979 (GRCm39)	I156T	probably benign	Het
Akt1	A	G	12: 112,624,863 (GRCm39)	V201A	possibly damaging	Het
Als2cl	C	G	9: 110,715,484 (GRCm39)	A182G	possibly damaging	Het
Amn	T	A	12: 111,241,819 (GRCm39)	L295Q	probably benign	Het
Depdc7	G	A	2: 104,552,314 (GRCm39)	R498C	probably benign	Het
Eogt	A	T	6: 97,122,327 (GRCm39)	Y35*	probably null	Het
Epb41l1	T	G	2: 156,364,150 (GRCm39)	S886R	probably damaging	Het
Fshr	A	T	17: 89,293,456 (GRCm39)	D407E	probably damaging	Het
Gngt1	C	A	6: 3,994,262 (GRCm39)	D13E	probably benign	Het
Grxcr1	T	C	5: 68,323,484 (GRCm39)	L254P	possibly damaging	Het
Itga11	A	G	9: 62,651,327 (GRCm39)	D290G	probably damaging	Het
Klf16	A	G	10: 80,412,719 (GRCm39)	S106P	probably benign	Het
Klk1b5	A	G	7: 43,500,204 (GRCm39)	D264G	possibly damaging	Het
Lama2	C	T	10: 26,977,369 (GRCm39)	V1937M	possibly damaging	Het
Lipi	T	A	16: 75,370,862 (GRCm39)	K118N	probably benign	Het
Manba	G	A	3: 135,217,573 (GRCm39)	V130I	probably benign	Het
Map2	A	G	1: 66,453,164 (GRCm39)	S527G	probably damaging	Het
Masp1	C	A	16: 23,271,281 (GRCm39)	V656L	probably damaging	Het
Mrpl10	A	T	11: 96,938,261 (GRCm39)	N137I	probably benign	Het
Mtfmt	C	A	9: 65,359,469 (GRCm39)	N381K	probably benign	Het
Myo18b	A	T	5: 113,021,422 (GRCm39)	Y546*	probably null	Het
Nectin4	C	T	1: 171,212,280 (GRCm39)	R293*	probably null	Het
Nudt3	A	G	17: 27,799,776 (GRCm39)	S136P	possibly damaging	Het
Or14c39	A	C	7: 86,344,361 (GRCm39)	R232S	probably benign	Het
Or1q1	G	A	2: 36,887,066 (GRCm39)	M81I	probably damaging	Het
Or4a81	T	C	2: 89,619,586 (GRCm39)	M37V	probably benign	Het
Or52h7	A	G	7: 104,214,066 (GRCm39)	M213V	probably benign	Het
Or9m2	T	C	2: 87,820,536 (GRCm39)	L27P	probably damaging	Het
Oxnad1	A	G	14: 31,823,250 (GRCm39)		probably null	Het
Parn	A	G	16: 13,425,113 (GRCm39)		probably null	Het
Pcdha12	T	C	18: 37,154,136 (GRCm39)	V285A	possibly damaging	Het
Pfkfb2	G	C	1: 130,624,816 (GRCm39)	Q515E	probably benign	Het
Pjvk	T	C	2: 76,480,901 (GRCm39)	F40L	probably benign	Het
Pygo2	A	G	3: 89,340,697 (GRCm39)	Y328C	probably damaging	Het
Rapgef5	A	C	12: 117,681,965 (GRCm39)	K215Q	probably damaging	Het
Sephs1	T	A	2: 4,893,821 (GRCm39)		probably null	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Spmip4	A	G	6: 50,566,107 (GRCm39)	Y123H	probably damaging	Het
Tbx21	A	T	11: 96,990,808 (GRCm39)	V290D	possibly damaging	Het
Tep1	C	A	14: 51,078,712 (GRCm39)	G1514W	probably damaging	Het
Vmn2r16	T	C	5: 109,487,073 (GRCm39)	M98T	probably benign	Het
Zfr	A	G	15: 12,150,455 (GRCm39)	N474S	probably benign	Het
Zpbp	T	C	11: 11,365,203 (GRCm39)	K215E	possibly damaging	Het

Other mutations in Dbf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Dbf4	APN	5	8,458,492 (GRCm39)	critical splice donor site	probably null
IGL02086:Dbf4	APN	5	8,453,189 (GRCm39)	missense	probably benign	0.09
IGL02582:Dbf4	APN	5	8,453,172 (GRCm39)	missense	probably benign	0.32
IGL02711:Dbf4	APN	5	8,458,235 (GRCm39)	missense	probably benign	0.08
PIT4362001:Dbf4	UTSW	5	8,453,664 (GRCm39)	missense	probably benign	0.00
R1201:Dbf4	UTSW	5	8,447,498 (GRCm39)	missense	possibly damaging	0.80
R1823:Dbf4	UTSW	5	8,447,539 (GRCm39)	missense	probably benign	0.00
R1863:Dbf4	UTSW	5	8,447,375 (GRCm39)	nonsense	probably null
R2237:Dbf4	UTSW	5	8,458,542 (GRCm39)	missense	possibly damaging	0.51
R2276:Dbf4	UTSW	5	8,471,333 (GRCm39)	missense	possibly damaging	0.91
R2279:Dbf4	UTSW	5	8,471,333 (GRCm39)	missense	possibly damaging	0.91
R4774:Dbf4	UTSW	5	8,453,062 (GRCm39)	intron	probably benign
R4839:Dbf4	UTSW	5	8,458,263 (GRCm39)	nonsense	probably null
R4932:Dbf4	UTSW	5	8,448,039 (GRCm39)	missense	probably benign
R6009:Dbf4	UTSW	5	8,453,718 (GRCm39)	missense	probably damaging	0.99
R6141:Dbf4	UTSW	5	8,458,545 (GRCm39)	missense	possibly damaging	0.92
R6236:Dbf4	UTSW	5	8,448,579 (GRCm39)	intron	probably benign
R6583:Dbf4	UTSW	5	8,448,143 (GRCm39)	missense	probably damaging	0.96
R6663:Dbf4	UTSW	5	8,453,184 (GRCm39)	missense	probably benign	0.00
R7665:Dbf4	UTSW	5	8,447,867 (GRCm39)	missense	probably damaging	0.99
R7864:Dbf4	UTSW	5	8,460,010 (GRCm39)	missense	possibly damaging	0.86
R7898:Dbf4	UTSW	5	8,458,232 (GRCm39)	critical splice donor site	probably null
R8192:Dbf4	UTSW	5	8,448,134 (GRCm39)	missense	probably benign	0.00
R8298:Dbf4	UTSW	5	8,462,115 (GRCm39)	splice site	probably benign
R8854:Dbf4	UTSW	5	8,458,562 (GRCm39)	missense	probably damaging	1.00
R8869:Dbf4	UTSW	5	8,448,656 (GRCm39)	missense
R9181:Dbf4	UTSW	5	8,462,206 (GRCm39)	missense	possibly damaging	0.85
R9303:Dbf4	UTSW	5	8,448,102 (GRCm39)	missense	unknown
R9408:Dbf4	UTSW	5	8,447,764 (GRCm39)	missense	possibly damaging	0.85
RF013:Dbf4	UTSW	5	8,447,985 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GGTTTCAGAAGTACTTGTTGGAAAC -3'
(R):5'- GGAAGGAACTCTAGTCCCTATTTTGG -3'

Sequencing Primer
(F):5'- TACTTGTTGGAAACGAAAAGCAG -3'
(R):5'- TTAGGGATCATACCTAAGGCCTC -3'

Posted On

2021-01-18