Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Zbtb4'

687146

Institutional Source

Beutler Lab

Gene Symbol

Zbtb4

Ensembl Gene

ENSMUSG00000018750

Gene Name

zinc finger and BTB domain containing 4

Synonyms

9230111I22Rik, 2310026P19Rik

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69656738-69674849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69672650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 204 (F204L)

Ref Sequence

ENSEMBL: ENSMUSP00000104282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045971] [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000156932]

AlphaFold

Q5F293

Predicted Effect

probably benign
Transcript: ENSMUST00000045971

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:Neur_chan_LBD	27	245	3.6e-65	PFAM
Pfam:Neur_chan_memb	252	487	3.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108638

SMART Domains

Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750

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 benign
Transcript: ENSMUST00000108639

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750

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: ENSMUST00000108640

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750

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
AA Change: F204L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750
AA Change: F204L

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

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Med19	A	G	2: 84,515,660 (GRCm39)	M115V	probably damaging	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Pnma1	T	C	12: 84,193,806 (GRCm39)	N299S	probably benign	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Wt1	C	A	2: 104,957,160 (GRCm39)	Q7K	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Zbtb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Zbtb4	APN	11	69,667,557 (GRCm39)	nonsense	probably null
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
R9674:Zbtb4	UTSW	11	69,669,973 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGGAAGGTCTCGATATCATGAG -3'
(R):5'- TAGGCTACAGGTCTCAGGATC -3'

Sequencing Primer
(F):5'- AAGGTCTCGATATCATGAGTTTCAGG -3'
(R):5'- GGATCCCTGCCAAGCAAAG -3'

Posted On

2021-11-19