Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Zbtb46'

513050

Institutional Source

Beutler Lab

Gene Symbol

Zbtb46

Ensembl Gene

ENSMUSG00000027583

Gene Name

zinc finger and BTB domain containing 46

Synonyms

2610019F01Rik, Btbd4, 4933406L05Rik

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

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

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181387762-181459426 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181391455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 471 (D471G)

Ref Sequence

ENSEMBL: ENSMUSP00000137014 (fasta)

Gene Model

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

AlphaFold

Q8BID6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029106
AA Change: D471G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: D471G

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

noncoding transcript
Transcript: ENSMUST00000127559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176590

Predicted Effect

probably damaging
Transcript: ENSMUST00000180222
AA Change: D471G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: D471G

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

Meta Mutation Damage Score

0.3154

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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
Arhgap10	G	A	8: 77,259,202 (GRCm38)	Q657*	probably null	Het
Car15	T	C	16: 17,838,066 (GRCm38)	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611 (GRCm38)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460 (GRCm38)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429 (GRCm38)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736 (GRCm38)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455 (GRCm38)		probably null	Het
Dab2ip	A	G	2: 35,710,266 (GRCm38)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142 (GRCm38)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709 (GRCm38)	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662 (GRCm38)	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931 (GRCm38)	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,290,601 (GRCm38)		probably benign	Het
Fyn	C	A	10: 39,526,883 (GRCm38)	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730 (GRCm38)	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539 (GRCm38)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,708,482 (GRCm38)	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537 (GRCm38)	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852 (GRCm38)	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129 (GRCm38)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206 (GRCm38)	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180 (GRCm38)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270 (GRCm38)	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155 (GRCm38)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955 (GRCm38)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109 (GRCm38)	T21S	probably benign	Het
Numb	C	A	12: 83,797,262 (GRCm38)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,072,583 (GRCm38)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,544,713 (GRCm38)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,422,159 (GRCm38)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409 (GRCm38)		probably null	Het
Pdzd8	T	C	19: 59,300,983 (GRCm38)	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690 (GRCm38)	V180G	probably benign	Het
Pira1	A	T	7: 3,736,504 (GRCm38)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,214,747 (GRCm38)	V22D	probably benign	Het
Prkn	T	C	17: 12,004,052 (GRCm38)	F363S	probably damaging	Het
Prpf4b	A	C	13: 34,901,433 (GRCm38)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965 (GRCm38)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419 (GRCm38)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm38)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,479,481 (GRCm38)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,515,669 (GRCm38)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571 (GRCm38)	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995 (GRCm38)	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806 (GRCm38)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728 (GRCm38)		probably benign	Het
Ssh1	T	C	5: 113,961,347 (GRCm38)		probably null	Het
Tas2r143	A	C	6: 42,400,835 (GRCm38)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629 (GRCm38)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,486,756 (GRCm38)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,633,966 (GRCm38)	M1K	probably null	Het
Tnc	T	C	4: 64,000,733 (GRCm38)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441 (GRCm38)	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792 (GRCm38)	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082 (GRCm38)	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm38)	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526 (GRCm38)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341 (GRCm38)	M259V	probably benign	Het

Other mutations in Zbtb46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Zbtb46	APN	2	181,424,135 (GRCm38)	missense	possibly damaging	0.48
IGL02401:Zbtb46	APN	2	181,423,452 (GRCm38)	missense	probably benign	0.01
R0127:Zbtb46	UTSW	2	181,411,815 (GRCm38)	missense	probably benign	0.32
R0279:Zbtb46	UTSW	2	181,411,774 (GRCm38)	missense	possibly damaging	0.67
R1618:Zbtb46	UTSW	2	181,424,249 (GRCm38)	missense	possibly damaging	0.92
R1711:Zbtb46	UTSW	2	181,411,684 (GRCm38)	missense	probably damaging	1.00
R1785:Zbtb46	UTSW	2	181,391,431 (GRCm38)	missense	probably damaging	1.00
R1786:Zbtb46	UTSW	2	181,391,431 (GRCm38)	missense	probably damaging	1.00
R1906:Zbtb46	UTSW	2	181,423,839 (GRCm38)	missense	probably damaging	1.00
R4170:Zbtb46	UTSW	2	181,424,355 (GRCm38)	start codon destroyed	probably null	0.98
R4782:Zbtb46	UTSW	2	181,391,136 (GRCm38)	missense	probably benign
R5656:Zbtb46	UTSW	2	181,423,417 (GRCm38)	critical splice donor site	probably null
R5808:Zbtb46	UTSW	2	181,423,570 (GRCm38)	missense	probably benign	0.00
R5932:Zbtb46	UTSW	2	181,411,920 (GRCm38)	missense	probably benign	0.00
R6467:Zbtb46	UTSW	2	181,391,269 (GRCm38)	missense	probably damaging	1.00
R6672:Zbtb46	UTSW	2	181,411,836 (GRCm38)	missense	probably benign	0.01
R6960:Zbtb46	UTSW	2	181,423,424 (GRCm38)	missense	probably damaging	0.99
R7485:Zbtb46	UTSW	2	181,423,719 (GRCm38)	missense	probably benign	0.04
R7780:Zbtb46	UTSW	2	181,391,432 (GRCm38)	missense	probably damaging	1.00
R9023:Zbtb46	UTSW	2	181,424,142 (GRCm38)	missense	possibly damaging	0.64
R9091:Zbtb46	UTSW	2	181,424,345 (GRCm38)	missense	probably benign	0.04
R9270:Zbtb46	UTSW	2	181,424,345 (GRCm38)	missense	probably benign	0.04
R9450:Zbtb46	UTSW	2	181,395,488 (GRCm38)	missense	probably damaging	1.00
R9573:Zbtb46	UTSW	2	181,411,755 (GRCm38)	missense	probably benign	0.03
Z1177:Zbtb46	UTSW	2	181,424,044 (GRCm38)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TGGAGAGTCTTCATCATCCTTGTC -3'
(R):5'- CCAAGATGGTTTGCTGCCTC -3'

Sequencing Primer
(F):5'- AGCAGTGCATCCTCATGG -3'
(R):5'- CCTCTAGTGATATTGCCCATGTGG -3'

Posted On

2018-04-27