Mutagenetix > Incidental Mutation

Incidental Mutation 'R4835:Zbtb20'

373190

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

042450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4835 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

42728008-43462981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43438761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 627 (T627K)

Ref Sequence

ENSEMBL: ENSMUSP00000110343 (fasta)

Gene Model

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

AlphaFold

Q8K0L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000079441
AA Change: T627K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078410
Gene: ENSMUSG00000022708
AA Change: T627K

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: T554K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110338
Gene: ENSMUSG00000022708
AA Change: T554K

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: T554K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110339
Gene: ENSMUSG00000022708
AA Change: T554K

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: T627K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110342
Gene: ENSMUSG00000022708
AA Change: T627K

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: T627K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110343
Gene: ENSMUSG00000022708
AA Change: T627K

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

Meta Mutation Damage Score

0.7204

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,326 (GRCm39)		noncoding transcript	Het
4933434E20Rik	A	G	3: 89,970,516 (GRCm39)	N17D	probably benign	Het
A1bg	T	C	15: 60,792,100 (GRCm39)	D176G	probably benign	Het
Abcg5	A	T	17: 84,966,076 (GRCm39)	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,657,752 (GRCm39)	C514S	probably damaging	Het
Angptl3	A	G	4: 98,925,649 (GRCm39)	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,525,811 (GRCm39)	W378*	probably null	Het
Apob	T	C	12: 8,065,391 (GRCm39)	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,494,931 (GRCm39)	I117T	probably damaging	Het
AW146154	T	A	7: 41,129,892 (GRCm39)	E408V	probably damaging	Het
Bicd1	A	T	6: 149,385,588 (GRCm39)	N107I	probably benign	Het
Blm	T	C	7: 80,159,294 (GRCm39)	S281G	probably benign	Het
Btaf1	T	A	19: 36,979,858 (GRCm39)	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,226,442 (GRCm39)		probably null	Het
Capn8	C	A	1: 182,432,116 (GRCm39)	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,525,408 (GRCm39)	S186A	probably damaging	Het
Cdca4	A	G	12: 112,785,167 (GRCm39)	L187P	probably damaging	Het
Chil6	T	A	3: 106,313,290 (GRCm39)	K20*	probably null	Het
Cmss1	A	T	16: 57,136,545 (GRCm39)	L109*	probably null	Het
Cmtm6	G	T	9: 114,560,410 (GRCm39)	W36L	probably benign	Het
Cnksr3	T	G	10: 7,110,757 (GRCm39)	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,473,570 (GRCm39)	G534*	probably null	Het
Col5a1	T	G	2: 27,915,656 (GRCm39)	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,417,723 (GRCm39)	F154L	probably benign	Het
Fabp7	G	A	10: 57,661,676 (GRCm39)	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,415,050 (GRCm39)	V232D	probably damaging	Het
Fam186a	T	G	15: 99,843,689 (GRCm39)	T852P	unknown	Het
Fam20a	T	C	11: 109,564,389 (GRCm39)	I455V	probably benign	Het
Fbxl6	C	T	15: 76,421,004 (GRCm39)	V324M	probably damaging	Het
Galnt18	T	C	7: 111,378,730 (GRCm39)	T9A	probably damaging	Het
Golgb1	T	A	16: 36,711,769 (GRCm39)	M191K	possibly damaging	Het
Gpld1	A	G	13: 25,166,699 (GRCm39)	T650A	probably benign	Het
Gprc5d	A	G	6: 135,093,515 (GRCm39)	F131L	probably benign	Het
H2az2	C	T	11: 6,389,437 (GRCm39)	G7E	unknown	Het
Haus4	A	T	14: 54,783,292 (GRCm39)		probably null	Het
Helq	A	G	5: 100,922,029 (GRCm39)	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,675,755 (GRCm39)	D117V	possibly damaging	Het
Kiz	A	T	2: 146,784,008 (GRCm39)	S514C	probably damaging	Het
Klhl6	A	T	16: 19,775,783 (GRCm39)	N258K	probably benign	Het
Krt72	G	C	15: 101,689,508 (GRCm39)		probably null	Het
Large1	A	T	8: 73,774,975 (GRCm39)	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,733,306 (GRCm39)	I469M	probably damaging	Het
Lypd4	T	A	7: 24,566,121 (GRCm39)	I68F	probably benign	Het
Mast1	A	G	8: 85,650,408 (GRCm39)	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,300 (GRCm39)	H283Q	probably benign	Het
Mrps5	G	A	2: 127,445,627 (GRCm39)	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,956,590 (GRCm39)	K241E	possibly damaging	Het
Myt1	A	G	2: 181,439,255 (GRCm39)	E259G	probably damaging	Het
Myt1l	C	A	12: 29,945,304 (GRCm39)	T1023K	unknown	Het
Ncapd3	T	C	9: 26,997,342 (GRCm39)	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,249,053 (GRCm39)	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,557,802 (GRCm39)	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,965,189 (GRCm39)	E1591G	probably benign	Het
Or10ac1	A	G	6: 42,515,770 (GRCm39)	F62S	probably damaging	Het
Or8j3b	A	G	2: 86,204,853 (GRCm39)	L301S	possibly damaging	Het
Osbpl1a	A	T	18: 12,901,593 (GRCm39)		probably null	Het
Papln	T	C	12: 83,821,194 (GRCm39)	I204T	probably damaging	Het
Phf1	A	G	17: 27,153,652 (GRCm39)	T97A	probably benign	Het
Plxnb1	A	G	9: 108,934,442 (GRCm39)	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,389,876 (GRCm39)	C96Y	probably damaging	Het
Rgmb	A	T	17: 16,027,624 (GRCm39)	M365K	possibly damaging	Het
Ric1	A	G	19: 29,572,936 (GRCm39)	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,474,211 (GRCm39)	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,047,195 (GRCm39)	M394T	unknown	Het
Siglech	T	A	7: 55,418,177 (GRCm39)	C48*	probably null	Het
Skic2	A	G	17: 35,061,897 (GRCm39)	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,224,462 (GRCm39)	T320A	probably benign	Het
Slc6a7	T	C	18: 61,135,277 (GRCm39)	Y417C	probably benign	Het
Sox21	A	G	14: 118,472,336 (GRCm39)	C238R	possibly damaging	Het
Tbata	A	T	10: 61,019,132 (GRCm39)	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,921,164 (GRCm39)	S1246A	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Thada	A	T	17: 84,748,532 (GRCm39)		probably null	Het
Tpcn2	C	T	7: 144,826,088 (GRCm39)	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220 (GRCm39)		probably null	Het
Trbv24	T	C	6: 41,195,026 (GRCm39)		probably benign	Het
Tyw1	A	G	5: 130,305,899 (GRCm39)	R341G	probably benign	Het
Vmn1r183	T	G	7: 23,754,564 (GRCm39)	N122K	probably benign	Het
Vmn2r61	T	A	7: 41,916,459 (GRCm39)	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,518 (GRCm39)	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,439 (GRCm39)	L3401P	probably benign	Het
Vps16	T	G	2: 130,280,220 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,696,468 (GRCm39)	I406N	probably damaging	Het
Vwa8	A	T	14: 79,172,053 (GRCm39)	Y278F	probably benign	Het
Washc4	A	T	10: 83,415,376 (GRCm39)	I789F	possibly damaging	Het
Zfyve16	A	T	13: 92,658,693 (GRCm39)	I406K	probably benign	Het
Zfyve9	A	C	4: 108,575,195 (GRCm39)	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,068,618 (GRCm39)	N164K	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
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
R8306:Zbtb20	UTSW	16	43,439,100 (GRCm39)	missense	probably damaging	0.99
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'- TCCAATCAAGGATGATCCATAAAGC -3'
(R):5'- TTGGTCAAACTTTGCTGGGC -3'

Sequencing Primer
(F):5'- ttgttctgtcctgcttgc -3'
(R):5'- TCAAACTTTGCTGGGCAGACG -3'

Posted On

2016-03-01