Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Zbtb3'

735343

Institutional Source

Beutler Lab

Gene Symbol

Zbtb3

Ensembl Gene

ENSMUSG00000071661

Gene Name

zinc finger and BTB domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8802530-8804854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8804469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 482 (E482G)

Ref Sequence

ENSEMBL: ENSMUSP00000127746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096751] [ENSMUST00000172175]

AlphaFold

Q91X45

Predicted Effect

probably benign
Transcript: ENSMUST00000096751

SMART Domains

Protein: ENSMUSP00000094513
Gene: ENSMUSG00000071660

Domain	Start	End	E-Value	Type
TPR	8	41	1.11e1	SMART
TPR	72	107	3.41e1	SMART
TPR	108	141	7.34e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172175
AA Change: E482G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661
AA Change: E482G

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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het

Other mutations in Zbtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Zbtb3	APN	19	8803665	missense	possibly damaging	0.72
IGL01399:Zbtb3	APN	19	8803455	missense	probably damaging	0.97
IGL01447:Zbtb3	APN	19	8804316	missense	probably damaging	1.00
IGL02016:Zbtb3	APN	19	8803215	missense	probably damaging	1.00
IGL02264:Zbtb3	APN	19	8803365	missense	probably damaging	1.00
IGL02720:Zbtb3	APN	19	8804214	splice site	probably null
R0456:Zbtb3	UTSW	19	8803200	missense	probably damaging	1.00
R0840:Zbtb3	UTSW	19	8803457	missense	possibly damaging	0.50
R1496:Zbtb3	UTSW	19	8803350	missense	probably damaging	1.00
R1509:Zbtb3	UTSW	19	8803407	missense	probably damaging	1.00
R4110:Zbtb3	UTSW	19	8803020	start gained	probably benign
R4902:Zbtb3	UTSW	19	8803967	missense	probably benign	0.40
R6148:Zbtb3	UTSW	19	8804196	missense	probably benign	0.15
R7121:Zbtb3	UTSW	19	8803407	missense	probably damaging	1.00
R8780:Zbtb3	UTSW	19	8803809	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCAAGACTTGTGGAAAGACCTTC -3'
(R):5'- TTCATTCTGCCACCCTGGAG -3'

Sequencing Primer
(F):5'- GACTTGTGGAAAGACCTTCTCATG -3'
(R):5'- ATTCTGCCACCCTGGAGTGATG -3'

Posted On

2022-11-14