Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Zbtb3'

77146

Institutional Source

Beutler Lab

Gene Symbol

Zbtb3

Ensembl Gene

ENSMUSG00000071661

Gene Name

zinc finger and BTB domain containing 3

Synonyms

MMRRC Submission

039019-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8802530-8804854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8803457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 145 (S145T)

Ref Sequence

ENSEMBL: ENSMUSP00000127746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]

AlphaFold

Q91X45

Predicted Effect

probably benign
Transcript: ENSMUST00000096261

SMART Domains

Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662

Domain	Start	End	E-Value	Type
Pfam:SHS2_Rpb7-N	8	77	1e-18	PFAM
S1	80	162	1.75e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172175
AA Change: S145T

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661
AA Change: S145T

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

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810020O05Rik	G	T	6: 87,680,278		noncoding transcript	Het
2700049A03Rik	C	G	12: 71,158,883	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688	T234A	probably benign	Het
Acot5	G	A	12: 84,075,840	W399*	probably null	Het
Adra1a	A	G	14: 66,727,710	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315	D948E	probably benign	Het
Clcn3	C	A	8: 60,929,154	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485	N79K	probably benign	Het
Ep300	A	T	15: 81,644,933	N1558I	unknown	Het
Fblim1	A	G	4: 141,581,009	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181		probably benign	Het
Foxl2	A	T	9: 98,955,931	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684	M1K	probably null	Het
Krt32	G	A	11: 100,081,242	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112	H895Q	probably benign	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,331,793	S1367G	possibly damaging	Het
Olfr129	A	G	17: 38,055,572	F7S	probably benign	Het
Olfr504	A	T	7: 108,565,616	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701		probably null	Het
Pgap2	A	T	7: 102,237,448	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284		probably benign	Het
Prpf39	T	G	12: 65,048,206	N219K	probably benign	Het
Rnf17	T	A	14: 56,475,447	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436		probably benign	Het
Stx1a	T	A	5: 135,041,234		probably benign	Het
Tenm3	C	A	8: 48,335,742	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049	S36F	probably damaging	Het
Trim5	A	T	7: 104,265,771	W364R	probably damaging	Het
Ttn	T	C	2: 76,786,811	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321	S210P	probably damaging	Het
Zfp882	T	A	8: 71,914,686	C452*	probably null	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
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'- TTTCTACAAGGAGCGGGAATTGGAC -3'
(R):5'- TGCCCGAAGATGTGATGAGTCAAC -3'

Sequencing Primer
(F):5'- TCACAATGAGATTGTCACGGC -3'
(R):5'- GTGATGAGTCAACTTCCATGC -3'

Posted On

2013-10-16