Mutagenetix > Incidental Mutation

Incidental Mutation 'R5313:Zbtb7b'

405685

Institutional Source

Beutler Lab

Gene Symbol

Zbtb7b

Ensembl Gene

ENSMUSG00000028042

Gene Name

zinc finger and BTB domain containing 7B

Synonyms

Thpok, c-Krox, Zfp67

MMRRC Submission

042896-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R5313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89377644-89394776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89381319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 64 (T64K)

Ref Sequence

ENSEMBL: ENSMUSP00000115425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029677] [ENSMUST00000107432] [ENSMUST00000107433] [ENSMUST00000107435] [ENSMUST00000124783] [ENSMUST00000126027] [ENSMUST00000142119] [ENSMUST00000148361] [ENSMUST00000208216]

AlphaFold

Q64321

Predicted Effect

probably damaging
Transcript: ENSMUST00000029677
AA Change: T64K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
BTB	34	145	1.45e-26	SMART
low complexity region	167	176	N/A	INTRINSIC
low complexity region	184	211	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
ZnF_C2H2	350	372	5.72e-1	SMART
ZnF_C2H2	378	400	5.99e-4	SMART
ZnF_C2H2	406	428	3.83e-2	SMART
ZnF_C2H2	434	454	8.98e0	SMART
low complexity region	477	486	N/A	INTRINSIC
low complexity region	511	539	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107432
AA Change: T64K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
BTB	34	145	1.45e-26	SMART
low complexity region	167	176	N/A	INTRINSIC
low complexity region	184	211	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
ZnF_C2H2	350	372	5.72e-1	SMART
ZnF_C2H2	378	400	5.99e-4	SMART
ZnF_C2H2	406	428	3.83e-2	SMART
ZnF_C2H2	434	454	8.98e0	SMART
low complexity region	477	486	N/A	INTRINSIC
low complexity region	511	539	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107433
AA Change: T64K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
BTB	34	145	1.45e-26	SMART
low complexity region	167	176	N/A	INTRINSIC
low complexity region	184	211	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
ZnF_C2H2	350	372	5.72e-1	SMART
ZnF_C2H2	378	400	5.99e-4	SMART
ZnF_C2H2	406	428	3.83e-2	SMART
ZnF_C2H2	434	454	8.98e0	SMART
low complexity region	477	486	N/A	INTRINSIC
low complexity region	511	539	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107435
AA Change: T64K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
BTB	34	145	1.45e-26	SMART
low complexity region	167	176	N/A	INTRINSIC
low complexity region	184	211	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
ZnF_C2H2	350	372	5.72e-1	SMART
ZnF_C2H2	378	400	5.99e-4	SMART
ZnF_C2H2	406	428	3.83e-2	SMART
ZnF_C2H2	434	454	8.98e0	SMART
low complexity region	477	486	N/A	INTRINSIC
low complexity region	511	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124783

Predicted Effect

probably damaging
Transcript: ENSMUST00000126027
AA Change: T64K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123348
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
BTB	34	124	1.36e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000142119
AA Change: T64K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115425
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
Pfam:BTB	24	112	2.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148361
AA Change: T64K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121498
Gene: ENSMUSG00000028042
AA Change: T64K

Domain	Start	End	E-Value	Type
Pfam:BTB	24	102	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208216

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit absence of peripheral T cells of the CD4+CD8- MHC class II-restricted T helper subset due to a specific block in thymic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,709,268	E1027K	probably damaging	Het
9130011E15Rik	G	A	19: 45,818,975	R661W	probably damaging	Het
Adam19	T	C	11: 46,131,776	C519R	probably damaging	Het
Adgra3	A	T	5: 49,961,309	S966T	probably benign	Het
Adgrl2	A	G	3: 148,823,713	Y1115H	probably damaging	Het
Adgrl3	A	T	5: 81,726,669	I938F	probably damaging	Het
Arhgef17	A	C	7: 100,928,924	L939W	probably damaging	Het
Arhgef18	A	G	8: 3,451,629		probably null	Het
Cacna1d	A	C	14: 30,346,841	I147S	probably benign	Het
Cdc42bpa	T	G	1: 180,084,433	D525E	probably benign	Het
Cdh6	T	A	15: 13,034,637	I646F	probably damaging	Het
Col6a5	T	G	9: 105,945,544	I205L	unknown	Het
Cpox	T	A	16: 58,677,948	Y381*	probably null	Het
Ctsc	T	C	7: 88,309,553	V347A	probably damaging	Het
Ephb6	A	T	6: 41,616,793	T537S	possibly damaging	Het
Fam135a	T	C	1: 24,028,585	I168V	possibly damaging	Het
Fam234b	T	A	6: 135,209,187	D64E	possibly damaging	Het
Fgfr2	A	T	7: 130,241,240	D157E	probably benign	Het
Fstl5	A	T	3: 76,593,505	I414F	possibly damaging	Het
Glp2r	T	C	11: 67,757,531	D115G	probably damaging	Het
Gpr85	A	T	6: 13,836,302	V201D	probably damaging	Het
Ido1	A	C	8: 24,587,778	I91S	probably damaging	Het
Ism2	G	A	12: 87,279,762	P468S	probably damaging	Het
Map2	A	G	1: 66,425,379	K1643E	probably damaging	Het
Olfr1228	C	T	2: 89,249,377	E106K	probably benign	Het
Olfr1329	A	G	4: 118,916,798	V223A	probably benign	Het
Olfr1466	G	A	19: 13,342,065	M102I	probably benign	Het
Olfr791	C	T	10: 129,527,081	P285S	probably damaging	Het
Ppargc1a	A	G	5: 51,458,239		probably benign	Het
Prpf4b	T	C	13: 34,894,549	V714A	probably damaging	Het
Sept8	C	T	11: 53,535,982	T190I	probably damaging	Het
Slc18a2	A	G	19: 59,293,843	K494R	probably benign	Het
Slc34a2	A	T	5: 53,069,339	K542N	probably damaging	Het
Snd1	C	A	6: 28,668,601	T429K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Timm10b	T	C	7: 105,641,080	L60P	probably damaging	Het
Tmprss11a	A	T	5: 86,411,815	Y373N	probably damaging	Het
Usp17la	T	A	7: 104,861,250	V354D	probably benign	Het

Other mutations in Zbtb7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Zbtb7b	APN	3	89379971	missense	possibly damaging	0.88
IGL02812:Zbtb7b	APN	3	89379774	missense	probably damaging	0.97
R4826:Zbtb7b	UTSW	3	89380773	missense	probably benign	0.00
R5354:Zbtb7b	UTSW	3	89379606	unclassified	probably benign
R7151:Zbtb7b	UTSW	3	89380902	missense	probably benign	0.00
R7152:Zbtb7b	UTSW	3	89380902	missense	probably benign	0.00
R7250:Zbtb7b	UTSW	3	89379669	missense	probably benign	0.00
R7426:Zbtb7b	UTSW	3	89381059	missense	probably damaging	1.00
R8556:Zbtb7b	UTSW	3	89393137	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATTTCCAGTAGCCGAGCAG -3'
(R):5'- TTGACCCTGCAGGAGAAGATG -3'

Sequencing Primer
(F):5'- TAGCCGAGCAGCTTGGAGTAC -3'
(R):5'- GGAGCCCCGAGGATGAC -3'

Posted On

2016-07-22