Mutagenetix > Incidental Mutation

Incidental Mutation 'R5808:Zbtb46'

448824

Institutional Source

Beutler Lab

Gene Symbol

Zbtb46

Ensembl Gene

ENSMUSG00000027583

Gene Name

zinc finger and BTB domain containing 46

Synonyms

Btbd4, 2610019F01Rik, 4933406L05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181029555-181101219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181065363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 262 (D262E)

Ref Sequence

ENSEMBL: ENSMUSP00000137014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029106] [ENSMUST00000087409] [ENSMUST00000155535] [ENSMUST00000180222]

AlphaFold

Q8BID6

Predicted Effect

probably benign
Transcript: ENSMUST00000029106
AA Change: D262E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: D262E

Domain	Start	End	E-Value	Type
BTB	31	129	2.89e-21	SMART
ZnF_C2H2	418	440	4.72e-2	SMART
ZnF_C2H2	446	468	4.24e-4	SMART
ZnF_C2H2	474	498	1.31e2	SMART
low complexity region	543	557	N/A	INTRINSIC
low complexity region	568	580	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087409
AA Change: D262E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: D262E

Domain	Start	End	E-Value	Type
BTB	31	129	2.89e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146446

Predicted Effect

probably benign
Transcript: ENSMUST00000155535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158987

Predicted Effect

probably benign
Transcript: ENSMUST00000180222
AA Change: D262E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: D262E

Domain	Start	End	E-Value	Type
BTB	31	129	2.89e-21	SMART
ZnF_C2H2	418	440	4.72e-2	SMART
ZnF_C2H2	446	468	4.24e-4	SMART
ZnF_C2H2	474	498	1.31e2	SMART
low complexity region	543	557	N/A	INTRINSIC
low complexity region	568	580	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit repressed altered myeloid potential in dendritic cells. Mice homozygous for a different knock-out allele exhibit partial activation of classical dendritic cells in the steady state. [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
2610028H24Rik	C	T	10: 76,286,482 (GRCm39)	R6W	probably damaging	Het
Ahnak	T	A	19: 8,987,599 (GRCm39)	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,685,561 (GRCm39)	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,365,298 (GRCm39)	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,250,812 (GRCm39)	V866E	probably benign	Het
Bmpr2	A	T	1: 59,906,560 (GRCm39)	Y551F	probably benign	Het
Cage1	A	G	13: 38,206,301 (GRCm39)		probably benign	Het
Caskin2	G	T	11: 115,692,589 (GRCm39)	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,746 (GRCm39)		probably null	Het
Ccdc162	A	T	10: 41,531,500 (GRCm39)	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,670,657 (GRCm39)	D197G	probably damaging	Het
CN725425	T	A	15: 91,129,847 (GRCm39)	S237T	probably benign	Het
Defb40	T	C	8: 19,025,095 (GRCm39)	H37R	probably benign	Het
Dis3l2	A	C	1: 86,977,360 (GRCm39)	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,568,724 (GRCm39)	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 67,102,621 (GRCm39)		probably null	Het
Dsc1	A	T	18: 20,219,886 (GRCm39)	C761*	probably null	Het
Dsg1b	A	T	18: 20,541,782 (GRCm39)	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,820,812 (GRCm39)	P251L	probably benign	Het
Epha6	A	T	16: 59,503,105 (GRCm39)	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,790,744 (GRCm39)	E122G	probably damaging	Het
Filip1	C	T	9: 79,725,983 (GRCm39)	G879R	possibly damaging	Het
Frem2	A	T	3: 53,559,984 (GRCm39)	F1508I	probably damaging	Het
Gja1	A	G	10: 56,264,594 (GRCm39)	N318D	probably benign	Het
Gm11564	T	C	11: 99,705,867 (GRCm39)	S188G	unknown	Het
Hlcs	A	G	16: 94,063,491 (GRCm39)	V523A	probably benign	Het
Kif1a	C	A	1: 92,970,420 (GRCm39)	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,559,289 (GRCm39)	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,201,732 (GRCm39)	L453S	probably damaging	Het
Mcf2l	A	G	8: 13,043,937 (GRCm39)	M1V	probably null	Het
Megf6	A	G	4: 154,352,119 (GRCm39)	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,633,781 (GRCm39)	I631N	probably benign	Het
Muc6	T	C	7: 141,226,360 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,428 (GRCm39)	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,720,127 (GRCm39)	F1017L	probably benign	Het
Nup62	A	C	7: 44,479,416 (GRCm39)	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,117,653 (GRCm39)	I42F	probably benign	Het
Ptprb	G	A	10: 116,175,392 (GRCm39)	R1129K	probably benign	Het
Rexo4	T	A	2: 26,854,197 (GRCm39)	K45I	probably damaging	Het
Rnf213	G	A	11: 119,327,121 (GRCm39)	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,373,908 (GRCm39)	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc41a2	T	C	10: 83,149,362 (GRCm39)	T194A	probably benign	Het
Slc4a10	G	A	2: 62,080,816 (GRCm39)	A348T	probably damaging	Het
Soat2	G	A	15: 102,062,460 (GRCm39)		probably null	Het
Srms	T	C	2: 180,850,548 (GRCm39)	S204G	probably benign	Het
Szt2	G	A	4: 118,229,810 (GRCm39)	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,896,973 (GRCm39)	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,467,559 (GRCm39)	R29H	probably benign	Het
Trappc12	T	A	12: 28,796,863 (GRCm39)	D223V	probably damaging	Het
Ttc6	T	A	12: 57,664,397 (GRCm39)	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,791,573 (GRCm39)	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,792,597 (GRCm39)	C641*	probably null	Het
Vrk3	A	G	7: 44,409,298 (GRCm39)	D155G	probably damaging	Het
Xxylt1	T	C	16: 30,869,503 (GRCm39)	Y199C	probably damaging	Het
Zcchc9	A	T	13: 91,948,766 (GRCm39)	S58T	probably benign	Het
Zfp747l1	A	T	7: 126,984,085 (GRCm39)		probably benign	Het
Zfyve16	A	T	13: 92,631,563 (GRCm39)	L1344*	probably null	Het

Other mutations in Zbtb46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Zbtb46	APN	2	181,065,928 (GRCm39)	missense	possibly damaging	0.48
IGL02401:Zbtb46	APN	2	181,065,245 (GRCm39)	missense	probably benign	0.01
R0127:Zbtb46	UTSW	2	181,053,608 (GRCm39)	missense	probably benign	0.32
R0279:Zbtb46	UTSW	2	181,053,567 (GRCm39)	missense	possibly damaging	0.67
R1618:Zbtb46	UTSW	2	181,066,042 (GRCm39)	missense	possibly damaging	0.92
R1711:Zbtb46	UTSW	2	181,053,477 (GRCm39)	missense	probably damaging	1.00
R1785:Zbtb46	UTSW	2	181,033,224 (GRCm39)	missense	probably damaging	1.00
R1786:Zbtb46	UTSW	2	181,033,224 (GRCm39)	missense	probably damaging	1.00
R1906:Zbtb46	UTSW	2	181,065,632 (GRCm39)	missense	probably damaging	1.00
R4170:Zbtb46	UTSW	2	181,066,148 (GRCm39)	start codon destroyed	probably null	0.98
R4782:Zbtb46	UTSW	2	181,032,929 (GRCm39)	missense	probably benign
R5656:Zbtb46	UTSW	2	181,065,210 (GRCm39)	critical splice donor site	probably null
R5932:Zbtb46	UTSW	2	181,053,713 (GRCm39)	missense	probably benign	0.00
R6360:Zbtb46	UTSW	2	181,033,248 (GRCm39)	missense	probably damaging	1.00
R6467:Zbtb46	UTSW	2	181,033,062 (GRCm39)	missense	probably damaging	1.00
R6672:Zbtb46	UTSW	2	181,053,629 (GRCm39)	missense	probably benign	0.01
R6960:Zbtb46	UTSW	2	181,065,217 (GRCm39)	missense	probably damaging	0.99
R7485:Zbtb46	UTSW	2	181,065,512 (GRCm39)	missense	probably benign	0.04
R7780:Zbtb46	UTSW	2	181,033,225 (GRCm39)	missense	probably damaging	1.00
R9023:Zbtb46	UTSW	2	181,065,935 (GRCm39)	missense	possibly damaging	0.64
R9091:Zbtb46	UTSW	2	181,066,138 (GRCm39)	missense	probably benign	0.04
R9270:Zbtb46	UTSW	2	181,066,138 (GRCm39)	missense	probably benign	0.04
R9450:Zbtb46	UTSW	2	181,037,281 (GRCm39)	missense	probably damaging	1.00
R9573:Zbtb46	UTSW	2	181,053,548 (GRCm39)	missense	probably benign	0.03
Z1177:Zbtb46	UTSW	2	181,065,837 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AACATCCATGAGGTCATCAGC -3'
(R):5'- CAGGAACCCAAAGCTGATGG -3'

Sequencing Primer
(F):5'- TCATCAGCACAGTGACTTGG -3'
(R):5'- CAAAGCTGATGGCCCTGATGAC -3'

Posted On

2016-12-15