Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Zbtb1'

255488

Institutional Source

Beutler Lab

Gene Symbol

Zbtb1

Ensembl Gene

ENSMUSG00000033454

Gene Name

zinc finger and BTB domain containing 1

Synonyms

C430003J21Rik

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76417040-76443724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76432619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 202 (S202T)

Ref Sequence

ENSEMBL: ENSMUSP00000041955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042779]

AlphaFold

Q91VL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042779
AA Change: S202T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: S202T

Domain	Start	End	E-Value	Type
BTB	24	121	1.01e-16	SMART
ZnF_C2H2	216	242	2.17e1	SMART
low complexity region	359	368	N/A	INTRINSIC
ZnF_C2H2	421	443	3.38e1	SMART
ZnF_C2H2	534	554	1.4e1	SMART
ZnF_C2H2	578	600	2.02e-1	SMART
ZnF_C2H2	606	628	6.23e-2	SMART
ZnF_C2H2	634	656	1.62e0	SMART
ZnF_C2H2	662	684	1.08e-1	SMART
ZnF_C2H2	686	709	1.36e-2	SMART

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit abnormal thymus, B cell, and T cell differentiation, and reduced numbers of T, B, and NK cells in the spleen. [provided by MGI curators]

Allele List at MGI

www.informatics.jax.org/javawi2/servlet/WIFetch

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,265,987 (GRCm39)	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,596,984 (GRCm39)	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Atp2b3	A	C	X: 72,577,526 (GRCm39)	T318P	probably benign	Het
Atrx	A	T	X: 104,874,474 (GRCm39)	V1962D	probably benign	Het
Chl1	C	A	6: 103,672,304 (GRCm39)	T531K	probably damaging	Het
Clca3b	T	A	3: 144,543,614 (GRCm39)	D405V	probably benign	Het
Clca3b	C	T	3: 144,552,692 (GRCm39)	D115N	probably benign	Het
Comtd1	A	G	14: 21,897,686 (GRCm39)	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,939,325 (GRCm39)	V108A	probably benign	Het
Crebbp	A	G	16: 3,936,946 (GRCm39)	V343A	probably damaging	Het
Edrf1	T	A	7: 133,269,301 (GRCm39)	D1109E	probably benign	Het
Elmo3	A	G	8: 106,034,691 (GRCm39)	E359G	possibly damaging	Het
Ep400	C	A	5: 110,903,780 (GRCm39)	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Glb1l	T	A	1: 75,185,834 (GRCm39)	E31D	probably benign	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,337,552 (GRCm39)	V110I	probably damaging	Het
Ints3	T	C	3: 90,300,469 (GRCm39)	E884G	probably benign	Het
Lin7b	A	G	7: 45,017,821 (GRCm39)	V170A	possibly damaging	Het
Lrch2	A	T	X: 146,256,026 (GRCm39)	V750E	probably damaging	Het
Mepe	C	T	5: 104,486,113 (GRCm39)	R418C	probably damaging	Het
Mettl25	A	T	10: 105,601,038 (GRCm39)		probably null	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,226 (GRCm39)	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,778,501 (GRCm39)	K445R	probably damaging	Het
Ntng2	T	C	2: 29,094,223 (GRCm39)	M383V	probably benign	Het
Or13n4	C	T	7: 106,423,571 (GRCm39)	R54Q	probably benign	Het
Or2z2	T	C	11: 58,346,403 (GRCm39)	Y124C	probably damaging	Het
Or7a37	A	C	10: 78,805,846 (GRCm39)	D121A	probably damaging	Het
Pak6	A	T	2: 118,524,488 (GRCm39)		probably benign	Het
Pcdh8	G	T	14: 80,006,154 (GRCm39)	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rint1	A	G	5: 24,010,400 (GRCm39)	E203G	probably benign	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,201,512 (GRCm39)	S669*	probably null	Het
Slc38a7	A	G	8: 96,572,571 (GRCm39)	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,241,369 (GRCm39)	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,098 (GRCm39)	V60A	probably benign	Het
Tcerg1l	T	C	7: 137,850,108 (GRCm39)	R422G	probably damaging	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,381,909 (GRCm39)	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,060,973 (GRCm39)	I204L	probably benign	Het

Other mutations in Zbtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01891:Zbtb1	APN	12	76,432,435 (GRCm39)	missense	probably damaging	1.00
IGL02097:Zbtb1	APN	12	76,433,371 (GRCm39)	missense	probably damaging	1.00
IGL02328:Zbtb1	APN	12	76,433,450 (GRCm39)	missense	possibly damaging	0.75
IGL02496:Zbtb1	APN	12	76,432,169 (GRCm39)	missense	possibly damaging	0.76
IGL03270:Zbtb1	APN	12	76,432,289 (GRCm39)	missense	possibly damaging	0.59
Limited	UTSW	12	76,432,601 (GRCm39)	missense	probably damaging	0.99
Occasional	UTSW	12	76,433,784 (GRCm39)	missense	probably damaging	1.00
Old_friend	UTSW	12	76,432,665 (GRCm39)	missense	probably damaging	0.96
scant	UTSW	12	76,432,235 (GRCm39)	missense	probably damaging	1.00
R0893:Zbtb1	UTSW	12	76,432,113 (GRCm39)	missense	probably damaging	1.00
R1317:Zbtb1	UTSW	12	76,433,573 (GRCm39)	missense	probably benign	0.00
R1525:Zbtb1	UTSW	12	76,433,206 (GRCm39)	missense	probably benign
R1761:Zbtb1	UTSW	12	76,432,595 (GRCm39)	nonsense	probably null
R5307:Zbtb1	UTSW	12	76,433,014 (GRCm39)	missense	probably damaging	1.00
R5718:Zbtb1	UTSW	12	76,433,698 (GRCm39)	missense	probably benign
R5975:Zbtb1	UTSW	12	76,433,049 (GRCm39)	missense	possibly damaging	0.88
R6484:Zbtb1	UTSW	12	76,432,665 (GRCm39)	missense	probably damaging	0.96
R6493:Zbtb1	UTSW	12	76,433,247 (GRCm39)	missense	probably benign
R6513:Zbtb1	UTSW	12	76,432,604 (GRCm39)	missense	possibly damaging	0.55
R6904:Zbtb1	UTSW	12	76,432,985 (GRCm39)	nonsense	probably null
R6948:Zbtb1	UTSW	12	76,432,601 (GRCm39)	missense	probably damaging	0.99
R8725:Zbtb1	UTSW	12	76,432,646 (GRCm39)	missense	probably damaging	1.00
R9202:Zbtb1	UTSW	12	76,433,784 (GRCm39)	missense	probably damaging	1.00
R9303:Zbtb1	UTSW	12	76,432,773 (GRCm39)	missense	probably damaging	0.98
R9305:Zbtb1	UTSW	12	76,432,773 (GRCm39)	missense	probably damaging	0.98
X0028:Zbtb1	UTSW	12	76,432,073 (GRCm39)	missense	probably damaging	1.00
Z1191:Zbtb1	UTSW	12	76,432,023 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTATGAAGACACGGTGGC -3'
(R):5'- GTCCGGCTGTGCAGAAAATG -3'

Sequencing Primer
(F):5'- CACGGTGGCTAGAAATGGC -3'
(R):5'- GAATCCTTTTCAGCAAGTTCAGC -3'

Posted On

2014-12-29