Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Zbtb46'

182374

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

181029555-181101219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181065928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 74 (H74L)

Ref Sequence

ENSEMBL: ENSMUSP00000137014 (fasta)

Gene Model

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

AlphaFold

Q8BID6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029106
AA Change: H74L

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: H74L

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

possibly damaging
Transcript: ENSMUST00000087409
AA Change: H74L

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: H74L

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

possibly damaging
Transcript: ENSMUST00000180222
AA Change: H74L

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: H74L

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Zbtb46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5808:Zbtb46	UTSW	2	181,065,363 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07