Mutagenetix > Incidental Mutation

Incidental Mutation 'R6493:Zbtb1'

522882

Institutional Source

Beutler Lab

Gene Symbol

Zbtb1

Ensembl Gene

ENSMUSG00000033454

Gene Name

zinc finger and BTB domain containing 1

Synonyms

C430003J21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.711) question?

Stock #

R6493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76370266-76396950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76386473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 411 (T411I)

Ref Sequence

ENSEMBL: ENSMUSP00000041955 (fasta)

Gene Model

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

AlphaFold

Q91VL9

Predicted Effect

probably benign
Transcript: ENSMUST00000042779
AA Change: T411I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: T411I

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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,293,878	H934L	probably benign	Het
Abcb1b	G	A	5: 8,824,698	D453N	probably damaging	Het
Ampd3	A	G	7: 110,795,811		probably null	Het
Axdnd1	A	T	1: 156,380,813	I485N	probably damaging	Het
Bscl2	A	G	19: 8,839,774	D22G	probably damaging	Het
Ccdc96	A	G	5: 36,486,252	E534G	probably damaging	Het
Cdc42bpg	G	T	19: 6,318,455	G1061V	probably damaging	Het
Cers3	T	C	7: 66,743,720	Y26H	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Clca4a	T	A	3: 144,957,298	T597S	probably benign	Het
Daxx	T	A	17: 33,912,371		probably null	Het
Egf	T	C	3: 129,719,088		probably benign	Het
Eps15	A	G	4: 109,368,948	D629G	probably damaging	Het
Fancm	G	A	12: 65,097,488	A575T	probably benign	Het
Fat4	G	A	3: 38,890,887	D1310N	probably damaging	Het
Gm10424	A	G	5: 95,270,825	L104P	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Grxcr2	G	A	18: 41,998,701	P101L	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,883	I225N	probably damaging	Het
Kcnj8	T	C	6: 142,566,047	Y278C	probably damaging	Het
Lama3	G	A	18: 12,482,148		probably null	Het
Lax1	C	T	1: 133,679,792	D404N	probably benign	Het
Lipg	T	C	18: 74,948,024	K329E	probably damaging	Het
Lysmd2	T	G	9: 75,635,702	L197R	probably damaging	Het
Maneal	A	T	4: 124,857,171	I264N	probably damaging	Het
Myh4	A	G	11: 67,258,629	N1729S	probably benign	Het
Myl2	A	G	5: 122,106,728	N154D	possibly damaging	Het
Nlrp9c	T	A	7: 26,382,387	D638V	probably damaging	Het
Notch1	T	C	2: 26,472,098	H74R	unknown	Het
Olfml3	A	T	3: 103,736,207	V286D	possibly damaging	Het
Olfr1271	G	A	2: 90,265,708	H241Y	probably damaging	Het
Olfr228	T	C	2: 86,483,221	I174V	possibly damaging	Het
Olfr310	T	G	7: 86,268,882	K302N	probably benign	Het
Olfr559	G	T	7: 102,724,080	R137S	possibly damaging	Het
Olfr562-ps1	A	G	7: 102,782,396	K307E	probably benign	Het
Parn	A	C	16: 13,656,925	F127V	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Plin2	G	A	4: 86,661,987	T90I	possibly damaging	Het
Podxl	C	T	6: 31,525,046	C326Y	probably damaging	Het
Prl8a8	T	A	13: 27,507,352	K223*	probably null	Het
Ptprh	T	G	7: 4,580,990	E201A	possibly damaging	Het
Rtn1	A	C	12: 72,308,329	V281G	probably damaging	Het
Scaf8	T	C	17: 3,171,119	S294P	unknown	Het
Shroom3	C	A	5: 92,941,561	N723K	probably benign	Het
Spata22	T	C	11: 73,353,746	*312R	probably null	Het
Stx7	T	C	10: 24,185,071		probably null	Het
Taar6	T	C	10: 23,985,123	D175G	probably benign	Het
Tbccd1	A	C	16: 22,822,466	L387R	probably damaging	Het
Tecpr1	T	C	5: 144,209,974	M525V	probably benign	Het
Tex10	A	T	4: 48,436,450	I756N	probably damaging	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Ttn	T	C	2: 76,741,997	E24438G	probably damaging	Het
Wdpcp	C	T	11: 21,711,631	T301I	possibly damaging	Het
Zcchc11	A	G	4: 108,526,805	K1053R	probably damaging	Het
Zzef1	G	A	11: 72,913,303	G2624R	probably benign	Het

Other mutations in Zbtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01891:Zbtb1	APN	12	76385661	missense	probably damaging	1.00
IGL02097:Zbtb1	APN	12	76386597	missense	probably damaging	1.00
IGL02328:Zbtb1	APN	12	76386676	missense	possibly damaging	0.75
IGL02496:Zbtb1	APN	12	76385395	missense	possibly damaging	0.76
IGL03270:Zbtb1	APN	12	76385515	missense	possibly damaging	0.59
Limited	UTSW	12	76385827	missense	probably damaging	0.99
Occasional	UTSW	12	76387010	missense	probably damaging	1.00
Old_friend	UTSW	12	76385891	missense	probably damaging	0.96
scant	UTSW	12	76385461	missense	probably damaging	1.00
R0893:Zbtb1	UTSW	12	76385339	missense	probably damaging	1.00
R1317:Zbtb1	UTSW	12	76386799	missense	probably benign	0.00
R1525:Zbtb1	UTSW	12	76386432	missense	probably benign
R1761:Zbtb1	UTSW	12	76385821	nonsense	probably null
R2920:Zbtb1	UTSW	12	76385845	missense	possibly damaging	0.83
R5307:Zbtb1	UTSW	12	76386240	missense	probably damaging	1.00
R5718:Zbtb1	UTSW	12	76386924	missense	probably benign
R5975:Zbtb1	UTSW	12	76386275	missense	possibly damaging	0.88
R6484:Zbtb1	UTSW	12	76385891	missense	probably damaging	0.96
R6513:Zbtb1	UTSW	12	76385830	missense	possibly damaging	0.55
R6904:Zbtb1	UTSW	12	76386211	nonsense	probably null
R6948:Zbtb1	UTSW	12	76385827	missense	probably damaging	0.99
R8725:Zbtb1	UTSW	12	76385872	missense	probably damaging	1.00
R9202:Zbtb1	UTSW	12	76387010	missense	probably damaging	1.00
R9303:Zbtb1	UTSW	12	76385999	missense	probably damaging	0.98
R9305:Zbtb1	UTSW	12	76385999	missense	probably damaging	0.98
X0028:Zbtb1	UTSW	12	76385299	missense	probably damaging	1.00
Z1191:Zbtb1	UTSW	12	76385249	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGCAGATGACATGAAAGACTTC -3'
(R):5'- GAGCATGTTCCTGAAGCTGTC -3'

Sequencing Primer
(F):5'- TTACTGAGAAAGACTGCAACGAGTCC -3'
(R):5'- AAGCTGTCTGCCCTTGACAAG -3'

Posted On

2018-06-06