Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Zbtb20'

641102

Institutional Source

Beutler Lab

Gene Symbol

Zbtb20

Ensembl Gene

ENSMUSG00000022708

Gene Name

zinc finger and BTB domain containing 20

Synonyms

D16Wsu73e, Zfp288, HOF, 7330412A13Rik, 1300017A20Rik, A930017C21Rik

MMRRC Submission

067792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42728008-43462981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43439100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 667 (D667A)

Ref Sequence

ENSEMBL: ENSMUSP00000110339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079441] [ENSMUST00000114690] [ENSMUST00000114691] [ENSMUST00000114694] [ENSMUST00000114695]

AlphaFold

Q8K0L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000079441
AA Change: D740A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078410
Gene: ENSMUSG00000022708
AA Change: D740A

Domain	Start	End	E-Value	Type
BTB	104	197	2.04e-21	SMART
low complexity region	403	423	N/A	INTRINSIC
ZnF_C2H2	578	600	6.88e-4	SMART
ZnF_C2H2	606	628	4.17e-3	SMART
ZnF_C2H2	634	656	7.6e-6	SMART
ZnF_C2H2	662	684	5.06e-2	SMART
low complexity region	689	708	N/A	INTRINSIC
ZnF_C2H2	715	737	7.9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114690
AA Change: D667A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110338
Gene: ENSMUSG00000022708
AA Change: D667A

Domain	Start	End	E-Value	Type
BTB	31	124	2.04e-21	SMART
low complexity region	330	350	N/A	INTRINSIC
ZnF_C2H2	505	527	6.88e-4	SMART
ZnF_C2H2	533	555	4.17e-3	SMART
ZnF_C2H2	561	583	7.6e-6	SMART
ZnF_C2H2	589	611	5.06e-2	SMART
low complexity region	616	635	N/A	INTRINSIC
ZnF_C2H2	642	664	7.9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114691
AA Change: D667A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110339
Gene: ENSMUSG00000022708
AA Change: D667A

Domain	Start	End	E-Value	Type
BTB	31	124	2.04e-21	SMART
low complexity region	330	350	N/A	INTRINSIC
ZnF_C2H2	505	527	6.88e-4	SMART
ZnF_C2H2	533	555	4.17e-3	SMART
ZnF_C2H2	561	583	7.6e-6	SMART
ZnF_C2H2	589	611	5.06e-2	SMART
low complexity region	616	635	N/A	INTRINSIC
ZnF_C2H2	642	664	7.9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114694
AA Change: D740A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110342
Gene: ENSMUSG00000022708
AA Change: D740A

Domain	Start	End	E-Value	Type
BTB	104	197	2.04e-21	SMART
low complexity region	403	423	N/A	INTRINSIC
ZnF_C2H2	578	600	6.88e-4	SMART
ZnF_C2H2	606	628	4.17e-3	SMART
ZnF_C2H2	634	656	7.6e-6	SMART
ZnF_C2H2	662	684	5.06e-2	SMART
low complexity region	689	708	N/A	INTRINSIC
ZnF_C2H2	715	737	7.9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114695
AA Change: D740A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110343
Gene: ENSMUSG00000022708
AA Change: D740A

Domain	Start	End	E-Value	Type
BTB	104	197	2.04e-21	SMART
low complexity region	403	423	N/A	INTRINSIC
ZnF_C2H2	578	600	6.88e-4	SMART
ZnF_C2H2	606	628	4.17e-3	SMART
ZnF_C2H2	634	656	7.6e-6	SMART
ZnF_C2H2	662	684	5.06e-2	SMART
low complexity region	689	708	N/A	INTRINSIC
ZnF_C2H2	715	737	7.9e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,321,903 (GRCm39)	D519E	probably benign	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,335,722 (GRCm39)	I972V	probably damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Frem3	A	G	8: 81,338,840 (GRCm39)	K378E	possibly damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,358,714 (GRCm39)	K231R	probably benign	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,380,985 (GRCm39)	V507L	probably benign	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	probably damaging	Het

Other mutations in Zbtb20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Zbtb20	APN	16	43,431,024 (GRCm39)	missense	possibly damaging	0.85
IGL02170:Zbtb20	APN	16	43,430,025 (GRCm39)	missense	possibly damaging	0.84
IGL02292:Zbtb20	APN	16	43,431,011 (GRCm39)	nonsense	probably null
IGL02733:Zbtb20	APN	16	43,430,296 (GRCm39)	missense	possibly damaging	0.48
IGL03277:Zbtb20	APN	16	43,438,800 (GRCm39)	missense	possibly damaging	0.95
siberian	UTSW	16	43,431,039 (GRCm39)	missense	probably damaging	0.96
Tiger	UTSW	16	43,438,761 (GRCm39)	missense	probably damaging	0.98
Towering	UTSW	16	43,431,230 (GRCm39)	nonsense	probably null
R0310:Zbtb20	UTSW	16	43,430,109 (GRCm39)	missense	probably damaging	0.98
R1593:Zbtb20	UTSW	16	43,429,786 (GRCm39)	missense	probably damaging	0.99
R1996:Zbtb20	UTSW	16	43,430,443 (GRCm39)	missense	probably damaging	0.98
R2018:Zbtb20	UTSW	16	43,398,015 (GRCm39)	missense	possibly damaging	0.86
R2050:Zbtb20	UTSW	16	43,429,975 (GRCm39)	splice site	probably null
R2097:Zbtb20	UTSW	16	43,429,882 (GRCm39)	missense	probably null	1.00
R4006:Zbtb20	UTSW	16	43,429,762 (GRCm39)	missense	probably damaging	1.00
R4708:Zbtb20	UTSW	16	43,431,039 (GRCm39)	missense	probably damaging	0.96
R4710:Zbtb20	UTSW	16	43,431,039 (GRCm39)	missense	probably damaging	0.96
R4835:Zbtb20	UTSW	16	43,438,761 (GRCm39)	missense	probably damaging	0.98
R4962:Zbtb20	UTSW	16	43,439,055 (GRCm39)	missense	probably damaging	0.99
R5531:Zbtb20	UTSW	16	43,431,230 (GRCm39)	nonsense	probably null
R7452:Zbtb20	UTSW	16	43,431,039 (GRCm39)	missense	probably damaging	0.96
R7523:Zbtb20	UTSW	16	43,430,875 (GRCm39)	missense	probably benign	0.01
R8175:Zbtb20	UTSW	16	43,397,443 (GRCm39)	intron	probably benign
R8811:Zbtb20	UTSW	16	43,430,857 (GRCm39)	missense	probably benign
R8922:Zbtb20	UTSW	16	43,397,968 (GRCm39)	missense	probably damaging	0.99
R9164:Zbtb20	UTSW	16	43,430,764 (GRCm39)	missense	probably benign	0.02
R9687:Zbtb20	UTSW	16	43,430,160 (GRCm39)	missense	possibly damaging	0.83
Z1176:Zbtb20	UTSW	16	43,430,893 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- AGTTCTCCCACAAGACCCTG -3'
(R):5'- CCGGAAATGTAATGTACCAGCAGG -3'

Sequencing Primer
(F):5'- ACAAGACCCTGCTGGAGC -3'
(R):5'- GCAGGCAAAAAACAGTTCTT -3'

Posted On

2020-07-28