Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Zbp1'

576296

Institutional Source

Beutler Lab

Gene Symbol

Zbp1

Ensembl Gene

ENSMUSG00000027514

Gene Name

Z-DNA binding protein 1

Synonyms

2010010H03Rik, Dai, mZaDLM

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173048405-173060715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173055611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 184 (K184N)

Ref Sequence

ENSEMBL: ENSMUSP00000104744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029018] [ENSMUST00000109116]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029018

SMART Domains

Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514

Domain	Start	End	E-Value	Type
Zalpha	6	72	5.32e-23	SMART
Zalpha	82	147	7.64e-24	SMART
Pfam:RHIM	163	202	1.8e-8	PFAM
Pfam:RHIM	208	258	1.2e-5	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000109116
AA Change: K184N

SMART Domains

Protein: ENSMUSP00000104744
Gene: ENSMUSG00000027514
AA Change: K184N

Domain	Start	End	E-Value	Type
Zalpha	6	72	5.32e-23	SMART
Zalpha	82	147	7.64e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display normal innate immune activation by double-stranded B-form DNA (B-DNA) as well as normal adaptive immune responses to DNA vaccination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Gm44501	A	G	17: 40,887,517 (GRCm39)	T12A	probably null	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Mark4	C	A	7: 19,160,092 (GRCm39)	G723C	probably damaging	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Scarb2	T	C	5: 92,633,093 (GRCm39)	I80V	probably benign	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Zbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Zbp1	APN	2	173,054,038 (GRCm39)	missense	possibly damaging	0.95
IGL01924:Zbp1	APN	2	173,054,047 (GRCm39)	missense	probably benign	0.09
IGL02804:Zbp1	APN	2	173,050,939 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Zbp1	UTSW	2	173,058,783 (GRCm39)	missense	probably damaging	1.00
R2100:Zbp1	UTSW	2	173,051,037 (GRCm39)	missense	probably damaging	1.00
R2269:Zbp1	UTSW	2	173,060,616 (GRCm39)	start gained	probably benign
R3795:Zbp1	UTSW	2	173,053,972 (GRCm39)	missense	probably benign	0.21
R4649:Zbp1	UTSW	2	173,049,608 (GRCm39)	missense	possibly damaging	0.56
R4653:Zbp1	UTSW	2	173,049,608 (GRCm39)	missense	possibly damaging	0.56
R4792:Zbp1	UTSW	2	173,051,006 (GRCm39)	missense	probably damaging	1.00
R4807:Zbp1	UTSW	2	173,053,999 (GRCm39)	missense	probably damaging	1.00
R5899:Zbp1	UTSW	2	173,052,340 (GRCm39)	missense	probably benign	0.29
R6290:Zbp1	UTSW	2	173,057,634 (GRCm39)	missense	probably damaging	1.00
R6705:Zbp1	UTSW	2	173,055,680 (GRCm39)	nonsense	probably null
R6835:Zbp1	UTSW	2	173,055,704 (GRCm39)	critical splice acceptor site	probably null
R7269:Zbp1	UTSW	2	173,055,665 (GRCm39)	missense	unknown
R7337:Zbp1	UTSW	2	173,060,546 (GRCm39)	nonsense	probably null
R7419:Zbp1	UTSW	2	173,050,958 (GRCm39)	missense	probably benign	0.00
R7508:Zbp1	UTSW	2	173,049,604 (GRCm39)	missense	possibly damaging	0.72
R8021:Zbp1	UTSW	2	173,051,003 (GRCm39)	missense	possibly damaging	0.78
R9182:Zbp1	UTSW	2	173,050,933 (GRCm39)	nonsense	probably null
R9294:Zbp1	UTSW	2	173,052,436 (GRCm39)	missense	possibly damaging	0.79
Z1177:Zbp1	UTSW	2	173,049,534 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGAAAGAAAGAACAACTACAGAAAG -3'
(R):5'- AAGCCTGAAGATGCCGAGAT -3'

Sequencing Primer
(F):5'- AGAACAACTACAGAAAGAAAGGAAAG -3'
(R):5'- TAGCAGTATCAGCTCTGAGCC -3'

Posted On

2019-10-07