Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Zbtb46'

442305

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

043302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R5656 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

181029555-181101219 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 181065210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137014 (fasta)

Gene Model

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

AlphaFold

Q8BID6

Predicted Effect

probably null
Transcript: ENSMUST00000029106

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583

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 null
Transcript: ENSMUST00000087409

SMART Domains

Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583

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 null
Transcript: ENSMUST00000180222

SMART Domains

Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Adrb3	T	C	8: 27,717,405 (GRCm39)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,587,587 (GRCm39)	V1959A	probably benign	Het
Bicral	G	A	17: 47,119,295 (GRCm39)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,435,912 (GRCm39)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,445,930 (GRCm39)	V414A	probably benign	Het
Cd22	T	G	7: 30,569,198 (GRCm39)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,555,247 (GRCm39)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,503,393 (GRCm39)	N852K	probably benign	Het
Cpa6	T	A	1: 10,399,739 (GRCm39)	H363L	probably benign	Het
Ddx18	A	T	1: 121,489,087 (GRCm39)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,210 (GRCm39)	D3849G	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Efs	T	C	14: 55,154,584 (GRCm39)	T552A	probably damaging	Het
Fbp1	C	A	13: 63,023,010 (GRCm39)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,261,826 (GRCm39)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,660,430 (GRCm39)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,143,542 (GRCm39)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,743,191 (GRCm39)		probably null	Het
Klhl41	T	A	2: 69,513,876 (GRCm39)	I585N	possibly damaging	Het
Map6	A	G	7: 98,985,505 (GRCm39)	K470E	probably damaging	Het
Mast3	T	C	8: 71,238,865 (GRCm39)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,121,155 (GRCm39)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm39)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,086,759 (GRCm39)	V152A	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Nav3	A	C	10: 109,600,494 (GRCm39)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,338,685 (GRCm39)	R651*	probably null	Het
Or1e1f	T	A	11: 73,855,536 (GRCm39)	M34K	probably damaging	Het
Or5b121	A	G	19: 13,507,744 (GRCm39)	T280A	probably benign	Het
Or5p72	A	G	7: 108,021,825 (GRCm39)	I16V	probably benign	Het
P2rx7	A	T	5: 122,811,780 (GRCm39)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,264,447 (GRCm39)	D2G	probably benign	Het
Phc3	G	T	3: 31,020,015 (GRCm39)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,073,711 (GRCm39)		probably null	Het
Prdm10	C	T	9: 31,264,713 (GRCm39)	T667M	probably benign	Het
Pwwp2b	T	A	7: 138,835,887 (GRCm39)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,467,035 (GRCm39)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,526,962 (GRCm39)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,378,508 (GRCm39)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,656,567 (GRCm39)	D266G	probably damaging	Het
Shank1	T	C	7: 44,002,310 (GRCm39)	V1343A	probably benign	Het
Slf2	T	A	19: 44,961,674 (GRCm39)	D1064E	probably benign	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Smg1	A	T	7: 117,753,887 (GRCm39)		probably benign	Het
Sptlc2	A	T	12: 87,393,535 (GRCm39)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,811,460 (GRCm39)	S93P	probably damaging	Het
Sult1c2	T	C	17: 54,271,680 (GRCm39)	E169G	probably benign	Het
Sv2a	A	G	3: 96,092,888 (GRCm39)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,813,754 (GRCm39)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,681,797 (GRCm39)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,457,690 (GRCm39)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,098,628 (GRCm39)	Y68N	probably benign	Het
Ttn	T	G	2: 76,604,998 (GRCm39)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,356,433 (GRCm39)	V95A	probably damaging	Het
Usp17ld	A	G	7: 102,900,047 (GRCm39)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,152 (GRCm39)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,113,575 (GRCm39)	R176*	probably null	Het
Zfp644	A	G	5: 106,785,848 (GRCm39)	V233A	probably benign	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
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'- TTCATGGCGTTAGAAGGTGACC -3'
(R):5'- TCTTCCAAGGACACTGCAATAC -3'

Sequencing Primer
(F):5'- GGTGGCAGCACACACCTTTAATTC -3'
(R):5'- CAGAATTCTTTATCAGAACAGGGTTC -3'

Posted On

2016-11-09