Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Zbtb4'

199587

Institutional Source

Beutler Lab

Gene Symbol

Zbtb4

Ensembl Gene

ENSMUSG00000018750

Gene Name

zinc finger and BTB domain containing 4

Synonyms

9230111I22Rik, 2310026P19Rik

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69656738-69674849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69667289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 198 (E198G)

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 benign
Transcript: ENSMUST00000108638
AA Change: E198G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: E198G

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
AA Change: E198G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: E198G

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
AA Change: E198G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: E198G

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

Meta Mutation Damage Score

0.0832

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTATAGTGCCCGGCTTGCACTC -3'
(R):5'- GGCAAACACCTTCTCACAGTAGCG -3'

Sequencing Primer
(F):5'- CGGCTTGCACTCCCTGG -3'
(R):5'- TTCACCACATGCTCAGGG -3'

Posted On

2014-05-23