Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Zbtb46'

214350

Institutional Source

Beutler Lab

Gene Symbol

Zbtb46

Ensembl Gene

ENSMUSG00000027583

Gene Name

zinc finger and BTB domain containing 46

Synonyms

Btbd4, 2610019F01Rik, 4933406L05Rik

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

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

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181029555-181101219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181065632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 173 (R173W)

Ref Sequence

ENSEMBL: ENSMUSP00000137014 (fasta)

Gene Model

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

AlphaFold

Q8BID6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029106
AA Change: R173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: R173W

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 damaging
Transcript: ENSMUST00000087409
AA Change: R173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: R173W

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 damaging
Transcript: ENSMUST00000180222
AA Change: R173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: R173W

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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,984 (GRCm39)	T923I	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Adamts5	C	T	16: 85,665,573 (GRCm39)	W576*	probably null	Het
Adnp	A	T	2: 168,024,287 (GRCm39)	S1003T	probably benign	Het
AI987944	C	T	7: 41,024,550 (GRCm39)	R146Q	probably benign	Het
Apol6	G	T	15: 76,935,060 (GRCm39)	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,223,751 (GRCm39)	F651L	probably damaging	Het
Atm	T	C	9: 53,417,868 (GRCm39)	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979 (GRCm39)	I752N	probably damaging	Het
Cdr2	A	G	7: 120,581,224 (GRCm39)	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,330,607 (GRCm39)	F75S	probably benign	Het
Col20a1	G	A	2: 180,640,490 (GRCm39)	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Dnah10	T	A	5: 124,878,048 (GRCm39)	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,807,787 (GRCm39)	I18F	probably damaging	Het
Dsn1	G	A	2: 156,838,163 (GRCm39)	R334W	probably damaging	Het
Egf	T	A	3: 129,518,873 (GRCm39)	K325N	probably benign	Het
Eps15	T	G	4: 109,181,398 (GRCm39)	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,794,475 (GRCm39)	D198E	probably damaging	Het
Folh1	C	G	7: 86,391,374 (GRCm39)		probably null	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Gm10604	T	G	4: 11,979,989 (GRCm39)	D105A	unknown	Het
Gpx8	A	G	13: 113,182,110 (GRCm39)	C108R	probably damaging	Het
Herc2	A	T	7: 55,764,612 (GRCm39)	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,110 (GRCm39)	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,478,544 (GRCm39)	C538W	probably damaging	Het
Ints13	A	T	6: 146,453,868 (GRCm39)		probably null	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lama2	A	C	10: 26,932,523 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,217,612 (GRCm39)	V847L	probably damaging	Het
Lmf1	T	A	17: 25,831,309 (GRCm39)	I185N	probably damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,960,644 (GRCm39)	I94V	probably benign	Het
Mycbpap	A	T	11: 94,396,447 (GRCm39)	M131K	probably benign	Het
Ncor1	A	T	11: 62,240,211 (GRCm39)	M920K	possibly damaging	Het
Neb	A	G	2: 52,198,538 (GRCm39)	Y437H	probably damaging	Het
Npy5r	A	T	8: 67,134,125 (GRCm39)	W223R	probably damaging	Het
Or10ak11	G	A	4: 118,687,467 (GRCm39)	H56Y	probably damaging	Het
Or10x4	C	A	1: 174,218,730 (GRCm39)	L32M	probably damaging	Het
Or4c114	A	G	2: 88,905,414 (GRCm39)	V7A	possibly damaging	Het
Or6c6c	T	G	10: 129,541,365 (GRCm39)	V206G	probably benign	Het
Polg	T	C	7: 79,110,070 (GRCm39)	K353E	probably damaging	Het
Proz	C	G	8: 13,123,686 (GRCm39)		probably null	Het
Pus7	T	C	5: 23,983,209 (GRCm39)	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Rigi	T	C	4: 40,206,054 (GRCm39)	K846R	probably benign	Het
Sptbn4	A	G	7: 27,090,856 (GRCm39)		probably null	Het
Srp68	A	T	11: 116,141,587 (GRCm39)	I424N	probably damaging	Het
Stard9	A	G	2: 120,526,908 (GRCm39)	E1055G	probably benign	Het
Taf4b	A	G	18: 14,955,159 (GRCm39)	I571V	probably benign	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Thap12	T	C	7: 98,365,947 (GRCm39)	L705P	probably damaging	Het
Tom1	T	C	8: 75,778,218 (GRCm39)	V100A	probably damaging	Het
Tox3	A	G	8: 90,975,057 (GRCm39)		probably benign	Het
Vmn2r82	A	G	10: 79,232,344 (GRCm39)	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,327,547 (GRCm39)	V343E	possibly damaging	Het
Zbbx	A	G	3: 74,979,047 (GRCm39)	Y467H	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	Het
Zfp777	A	C	6: 48,018,995 (GRCm39)	M313R	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAGATGGAAGCTCACTCCCTC -3'
(R):5'- CAGATGACTGACATTGTGCAG -3'

Sequencing Primer
(F):5'- CCCTCCATAATGTGATGGTGAAATC -3'
(R):5'- AGGCCTGCCATGATTTCATCAAG -3'

Posted On

2014-07-14