Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Zbtb3'

332118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb3

Ensembl Gene

ENSMUSG00000071661

Gene Name

zinc finger and BTB domain containing 3

Synonyms

4930563M09Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

8779919-8782210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8781029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 214 (D214G)

Ref Sequence

ENSEMBL: ENSMUSP00000127746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172175]

AlphaFold

Q91X45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172175
AA Change: D214G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661
AA Change: D214G

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
BTB	24	123	4.37e-21	SMART
low complexity region	207	225	N/A	INTRINSIC
low complexity region	273	292	N/A	INTRINSIC
low complexity region	386	406	N/A	INTRINSIC
ZnF_C2H2	418	440	7.55e-1	SMART
ZnF_C2H2	446	469	3.11e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,102 (GRCm39)	S2T	probably damaging	Het
Adamts13	T	A	2: 26,863,567 (GRCm39)	W7R	probably benign	Het
Anks6	T	A	4: 47,046,054 (GRCm39)	D279V	probably damaging	Het
C4bp	A	T	1: 130,566,871 (GRCm39)	L335Q	probably damaging	Het
Cd109	A	T	9: 78,568,216 (GRCm39)	K299*	probably null	Het
Cd200r2	A	T	16: 44,729,651 (GRCm39)	H102L	probably damaging	Het
Col12a1	A	G	9: 79,604,863 (GRCm39)	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 39,990,441 (GRCm39)	F380L	probably benign	Het
Deup1	A	G	9: 15,472,666 (GRCm39)	S549P	probably damaging	Het
Dysf	G	T	6: 84,176,830 (GRCm39)		probably null	Het
Etaa1	A	T	11: 17,897,825 (GRCm39)	C166*	probably null	Het
Fam227b	T	C	2: 125,986,245 (GRCm39)		probably null	Het
Gucy1b2	T	G	14: 62,640,649 (GRCm39)	Q752P	probably benign	Het
Hal	T	C	10: 93,325,931 (GRCm39)		probably null	Het
Hao1	C	A	2: 134,396,190 (GRCm39)	K21N	probably damaging	Het
Itga4	T	C	2: 79,122,394 (GRCm39)	F536L	probably benign	Het
Lmod3	A	T	6: 97,224,822 (GRCm39)	I333N	probably damaging	Het
Mgme1	T	A	2: 144,121,436 (GRCm39)	D297E	probably damaging	Het
Myh2	G	T	11: 67,069,659 (GRCm39)		probably benign	Het
Myo7a	A	G	7: 97,751,833 (GRCm39)	M70T	probably damaging	Het
Nav3	T	C	10: 109,688,607 (GRCm39)	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,494,845 (GRCm39)	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,015,898 (GRCm39)		probably benign	Het
Nxn	C	A	11: 76,165,481 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,185 (GRCm39)	D551V	probably damaging	Het
Pde4d	A	G	13: 110,073,221 (GRCm39)	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,169,099 (GRCm39)	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,431,582 (GRCm39)	T54A	probably benign	Het
Rif1	T	A	2: 52,011,019 (GRCm39)	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,186,203 (GRCm39)	S276P	probably benign	Het
Scaf4	C	A	16: 90,044,169 (GRCm39)	M601I	unknown	Het
Scart2	A	G	7: 139,874,755 (GRCm39)	Y411C	probably damaging	Het
Setd7	T	A	3: 51,457,729 (GRCm39)	T33S	probably benign	Het
Shroom1	T	A	11: 53,354,921 (GRCm39)	D280E	probably benign	Het
Slc35f2	G	T	9: 53,705,298 (GRCm39)		probably null	Het
Slitrk3	T	A	3: 72,958,436 (GRCm39)	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,967 (GRCm39)		probably benign	Het
Stx6	C	T	1: 155,077,679 (GRCm39)		probably benign	Het
Sun1	A	T	5: 139,220,440 (GRCm39)		probably null	Het
Tbl1xr1	G	A	3: 22,246,432 (GRCm39)		probably null	Het
Tmc2	T	C	2: 130,103,224 (GRCm39)	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 192,877,128 (GRCm39)		probably benign	Het
Trip12	T	G	1: 84,741,582 (GRCm39)	H559P	probably damaging	Het
Trpm1	G	T	7: 63,897,215 (GRCm39)	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,073,119 (GRCm39)	E189G	probably benign	Het
Tubd1	T	C	11: 86,445,894 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,729,539 (GRCm39)	T167S	probably damaging	Het
Zfp658	A	G	7: 43,216,780 (GRCm39)	D50G	probably benign	Het
Zfp976	T	A	7: 42,263,109 (GRCm39)	I243L	unknown	Het

Other mutations in Zbtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Zbtb3	APN	19	8,780,819 (GRCm39)	missense	probably damaging	0.97
IGL01447:Zbtb3	APN	19	8,781,680 (GRCm39)	missense	probably damaging	1.00
IGL02016:Zbtb3	APN	19	8,780,579 (GRCm39)	missense	probably damaging	1.00
IGL02264:Zbtb3	APN	19	8,780,729 (GRCm39)	missense	probably damaging	1.00
IGL02720:Zbtb3	APN	19	8,781,578 (GRCm39)	splice site	probably null
R0456:Zbtb3	UTSW	19	8,780,564 (GRCm39)	missense	probably damaging	1.00
R0840:Zbtb3	UTSW	19	8,780,821 (GRCm39)	missense	possibly damaging	0.50
R1496:Zbtb3	UTSW	19	8,780,714 (GRCm39)	missense	probably damaging	1.00
R1509:Zbtb3	UTSW	19	8,780,771 (GRCm39)	missense	probably damaging	1.00
R4110:Zbtb3	UTSW	19	8,780,384 (GRCm39)	start gained	probably benign
R4902:Zbtb3	UTSW	19	8,781,331 (GRCm39)	missense	probably benign	0.40
R6148:Zbtb3	UTSW	19	8,781,560 (GRCm39)	missense	probably benign	0.15
R7121:Zbtb3	UTSW	19	8,780,771 (GRCm39)	missense	probably damaging	1.00
R8780:Zbtb3	UTSW	19	8,781,173 (GRCm39)	missense	possibly damaging	0.94
R9803:Zbtb3	UTSW	19	8,781,833 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-08-05