Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Zbp1'

554606

Institutional Source

Beutler Lab

Gene Symbol

Zbp1

Ensembl Gene

ENSMUSG00000027514

Gene Name

Z-DNA binding protein 1

Synonyms

2010010H03Rik, Dai, mZaDLM

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173048405-173060715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173058783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 18 (I18T)

Ref Sequence

ENSEMBL: ENSMUSP00000029018 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029018
AA Change: I18T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
AA Change: I18T

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

probably damaging
Transcript: ENSMUST00000109116
AA Change: I18T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104744
Gene: ENSMUSG00000027514
AA Change: I18T

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

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

Validation Efficiency

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
Abcg1	T	C	17: 31,283,398 (GRCm39)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Cblb	T	A	16: 51,959,905 (GRCm39)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Ddhd2	T	C	8: 26,225,779 (GRCm39)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,206,471 (GRCm39)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,685,277 (GRCm39)	S282T	probably benign	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	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
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
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'- GATTACCAAGGCTAGGCTGG -3'
(R):5'- GCCACCCAGACATCTAGTTGTG -3'

Sequencing Primer
(F):5'- TTCTCAGGGATTGCAGGAGCC -3'
(R):5'- CCCAGACATCTAGTTGTGGGGTG -3'

Posted On

2019-06-07