Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00592:Zbtb4'

14905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb4

Ensembl Gene

ENSMUSG00000018750

Gene Name

zinc finger and BTB domain containing 4

Synonyms

9230111I22Rik, 2310026P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00592

Quality Score

Status

Chromosome

Chromosomal Location

69656738-69674849 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69667557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 287 (C287*)

Ref Sequence

ENSEMBL: ENSMUSP00000104280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000132528] [ENSMUST00000153943] [ENSMUST00000156932]

AlphaFold

Q5F293

Predicted Effect

probably null
Transcript: ENSMUST00000108638
AA Change: C287*

SMART Domains

Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: C287*

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108639
AA Change: C287*

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: C287*

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108640
AA Change: C287*

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: C287*

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108642

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132528

SMART Domains

Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	56	6.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153943

SMART Domains

Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	5.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156932

SMART Domains

Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	6e-8	PFAM
low complexity region	68	85	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	A	G	3: 138,126,397 (GRCm39)	I91V	probably damaging	Het
Ak6	T	C	13: 100,800,599 (GRCm39)	V74A	probably benign	Het
Antxr1	C	A	6: 87,265,784 (GRCm39)	V110F	probably damaging	Het
Anxa1	T	C	19: 20,355,033 (GRCm39)	D247G	probably benign	Het
Dgkg	T	C	16: 22,298,112 (GRCm39)		probably benign	Het
Eva1b	T	C	4: 126,043,443 (GRCm39)	M161T	probably benign	Het
Fbxw22	C	A	9: 109,213,108 (GRCm39)	V280F	possibly damaging	Het
Klhl9	A	G	4: 88,639,378 (GRCm39)	S288P	probably damaging	Het
Masp2	C	T	4: 148,687,186 (GRCm39)	P23S	probably benign	Het
Ncam1	T	A	9: 49,434,865 (GRCm39)	D600V	probably damaging	Het
Pcnx4	A	G	12: 72,626,139 (GRCm39)	N1115S	probably damaging	Het
Pdia2	A	G	17: 26,417,090 (GRCm39)	V109A	probably damaging	Het
Pla1a	G	T	16: 38,235,212 (GRCm39)	H161N	probably damaging	Het
Prokr2	A	T	2: 132,223,424 (GRCm39)	D39E	probably benign	Het
Sall4	T	C	2: 168,597,883 (GRCm39)	D319G	probably damaging	Het
Sgms2	A	G	3: 131,135,482 (GRCm39)	S131P	possibly damaging	Het
Slc22a2	A	T	17: 12,827,305 (GRCm39)	Q319L	possibly damaging	Het
Slc27a5	A	G	7: 12,722,566 (GRCm39)	I636T	probably benign	Het
Tas2r131	T	G	6: 132,934,159 (GRCm39)	T217P	probably damaging	Het
Trh	T	C	6: 92,219,723 (GRCm39)	M198V	possibly damaging	Het
Ube2b	A	C	11: 51,877,546 (GRCm39)	V141G	probably damaging	Het
Ube2l6	T	A	2: 84,639,373 (GRCm39)	V112E	probably damaging	Het
Vmn1r79	T	C	7: 11,910,934 (GRCm39)	I272T	probably benign	Het
Xylb	C	T	9: 119,219,549 (GRCm39)	Q513*	probably null	Het

Other mutations in Zbtb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Zbtb4	APN	11	69,667,255 (GRCm39)	nonsense	probably null
R0092:Zbtb4	UTSW	11	69,670,177 (GRCm39)	missense	probably benign
R0403:Zbtb4	UTSW	11	69,668,465 (GRCm39)	missense	probably damaging	0.99
R1276:Zbtb4	UTSW	11	69,667,045 (GRCm39)	missense	probably damaging	1.00
R1654:Zbtb4	UTSW	11	69,669,995 (GRCm39)	missense	probably damaging	0.98
R1734:Zbtb4	UTSW	11	69,667,289 (GRCm39)	missense	probably benign	0.13
R1762:Zbtb4	UTSW	11	69,669,743 (GRCm39)	missense	probably benign	0.03
R2224:Zbtb4	UTSW	11	69,667,184 (GRCm39)	missense	probably benign	0.43
R2930:Zbtb4	UTSW	11	69,667,342 (GRCm39)	nonsense	probably null
R4670:Zbtb4	UTSW	11	69,667,355 (GRCm39)	missense	probably damaging	0.97
R4998:Zbtb4	UTSW	11	69,669,497 (GRCm39)	missense	probably benign	0.31
R5956:Zbtb4	UTSW	11	69,669,040 (GRCm39)	missense	probably benign	0.29
R5988:Zbtb4	UTSW	11	69,669,790 (GRCm39)	missense	probably damaging	1.00
R6115:Zbtb4	UTSW	11	69,667,148 (GRCm39)	missense	probably damaging	1.00
R6237:Zbtb4	UTSW	11	69,669,069 (GRCm39)	missense	possibly damaging	0.70
R6803:Zbtb4	UTSW	11	69,669,454 (GRCm39)	missense	possibly damaging	0.92
R7395:Zbtb4	UTSW	11	69,666,937 (GRCm39)	missense	possibly damaging	0.58
R7756:Zbtb4	UTSW	11	69,669,368 (GRCm39)	missense	probably benign	0.27
R7758:Zbtb4	UTSW	11	69,669,368 (GRCm39)	missense	probably benign	0.27
R7877:Zbtb4	UTSW	11	69,666,863 (GRCm39)	missense	probably benign	0.39
R8215:Zbtb4	UTSW	11	69,669,598 (GRCm39)	missense	probably benign	0.00
R8306:Zbtb4	UTSW	11	69,668,309 (GRCm39)	missense	probably damaging	1.00
R8407:Zbtb4	UTSW	11	69,669,101 (GRCm39)	missense	probably benign	0.00
R8690:Zbtb4	UTSW	11	69,667,618 (GRCm39)	missense	probably damaging	1.00
R8785:Zbtb4	UTSW	11	69,668,989 (GRCm39)	missense	possibly damaging	0.48
R9032:Zbtb4	UTSW	11	69,672,650 (GRCm39)	missense	probably benign
R9674:Zbtb4	UTSW	11	69,669,973 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06