Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Zbtb2'

405363

Institutional Source

Beutler Lab

Gene Symbol

Zbtb2

Ensembl Gene

ENSMUSG00000075327

Gene Name

zinc finger and BTB domain containing 2

Synonyms

LOC381990

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4367075-4388108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4368508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 506 (K506R)

Ref Sequence

ENSEMBL: ENSMUSP00000097656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100077] [ENSMUST00000100078]

AlphaFold

Q3V3W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000100077
AA Change: K506R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097655
Gene: ENSMUSG00000075327
AA Change: K506R

Domain	Start	End	E-Value	Type
BTB	24	117	1.45e-12	SMART
low complexity region	201	220	N/A	INTRINSIC
ZnF_C2H2	254	276	4.87e-4	SMART
ZnF_C2H2	363	385	4.24e-4	SMART
ZnF_C2H2	390	410	1.06e2	SMART
ZnF_C2H2	448	468	2.41e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100078
AA Change: K506R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097656
Gene: ENSMUSG00000075327
AA Change: K506R

Domain	Start	End	E-Value	Type
BTB	24	117	1.45e-12	SMART
low complexity region	201	220	N/A	INTRINSIC
ZnF_C2H2	254	276	4.87e-4	SMART
ZnF_C2H2	363	385	4.24e-4	SMART
ZnF_C2H2	390	410	1.06e2	SMART
ZnF_C2H2	448	468	2.41e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215860

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Zbtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Zbtb2	APN	10	4369702	missense	probably benign	0.28
IGL02340:Zbtb2	APN	10	4368712	missense	probably damaging	0.98
PIT4142001:Zbtb2	UTSW	10	4369493	missense	probably benign	0.00
PIT4581001:Zbtb2	UTSW	10	4369265	missense	possibly damaging	0.77
R1436:Zbtb2	UTSW	10	4368697	missense	probably benign	0.01
R2015:Zbtb2	UTSW	10	4369757	missense	possibly damaging	0.94
R2570:Zbtb2	UTSW	10	4368673	missense	probably damaging	1.00
R5134:Zbtb2	UTSW	10	4369267	missense	possibly damaging	0.48
R5275:Zbtb2	UTSW	10	4368508	missense	probably damaging	1.00
R5286:Zbtb2	UTSW	10	4368566	missense	possibly damaging	0.66
R5328:Zbtb2	UTSW	10	4369267	missense	possibly damaging	0.48
R5475:Zbtb2	UTSW	10	4369275	missense	probably benign	0.18
R5719:Zbtb2	UTSW	10	4369456	missense	probably benign	0.22
R5907:Zbtb2	UTSW	10	4368592	missense	possibly damaging	0.52
R6033:Zbtb2	UTSW	10	4368599	missense	probably damaging	0.97
R6033:Zbtb2	UTSW	10	4368599	missense	probably damaging	0.97
R6492:Zbtb2	UTSW	10	4369711	missense	probably damaging	1.00
R7016:Zbtb2	UTSW	10	4368646	missense	probably damaging	1.00
R7287:Zbtb2	UTSW	10	4368986	missense	possibly damaging	0.77
R7348:Zbtb2	UTSW	10	4374574	missense	possibly damaging	0.48
R7486:Zbtb2	UTSW	10	4369025	nonsense	probably null
R8316:Zbtb2	UTSW	10	4369084	missense	probably benign	0.02
R9031:Zbtb2	UTSW	10	4369183	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGTACTACTGACCATTATCCTTCC -3'
(R):5'- TGCAACCTGTGTGACAAGAC -3'

Sequencing Primer
(F):5'- GTTCAGGATTATAATGCACAAAGCC -3'
(R):5'- AACCTGTGTGACAAGACGTTCTC -3'

Posted On

2016-07-22