Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Zbp1'

581880

Institutional Source

Beutler Lab

Gene Symbol

Zbp1

Ensembl Gene

ENSMUSG00000027514

Gene Name

Z-DNA binding protein 1

Synonyms

2010010H03Rik, Dai, mZaDLM

MMRRC Submission

045581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7508 (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 173049604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 386 (Q386L)

Ref Sequence

ENSEMBL: ENSMUSP00000029018 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029018
AA Change: Q386L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
AA Change: Q386L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Lyl1	T	C	8: 85,430,929 (GRCm39)	V277A	probably benign	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or2b6	T	A	13: 21,822,779 (GRCm39)	I305F	probably benign	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rbm25	T	C	12: 83,719,651 (GRCm39)	L557P	probably damaging	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Slc9a5	T	A	8: 106,089,885 (GRCm39)		probably null	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp512	C	G	5: 31,630,883 (GRCm39)	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	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
R7429:Zbp1	UTSW	2	173,055,611 (GRCm39)	missense	unknown
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'- GCCTTTCCAGGGACAATACCAC -3'
(R):5'- CCTGGAGTGCATTCAAGCAG -3'

Sequencing Primer
(F):5'- TTTCCAGGGACAATACCACACTTG -3'
(R):5'- CTGGAGTGCATTCAAGCAGAAACC -3'

Posted On

2019-10-17