Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01537:Zbtb7b'

89999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb7b

Ensembl Gene

ENSMUSG00000028042

Gene Name

zinc finger and BTB domain containing 7B

Synonyms

Zfp67, Thpok, c-Krox

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

89284953-89300976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89287278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 397 (M397T)

Ref Sequence

ENSEMBL: ENSMUSP00000103058 (fasta)

Gene Model

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

AlphaFold

Q64321

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029677
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: M397T

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

possibly damaging
Transcript: ENSMUST00000107432
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: M397T

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

possibly damaging
Transcript: ENSMUST00000107433
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: M397T

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

possibly damaging
Transcript: ENSMUST00000107435
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: M397T

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 benign
Transcript: ENSMUST00000126027

SMART Domains

Protein: ENSMUSP00000123348
Gene: ENSMUSG00000028042

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142119

SMART Domains

Protein: ENSMUSP00000115425
Gene: ENSMUSG00000028042

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208216

Predicted Effect

probably benign
Transcript: ENSMUST00000148361

SMART Domains

Protein: ENSMUSP00000121498
Gene: ENSMUSG00000028042

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

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 110,459,312 (GRCm39)	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,616,992 (GRCm39)		probably benign	Het
Brinp2	T	C	1: 158,074,379 (GRCm39)	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,548,540 (GRCm39)	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,541,301 (GRCm39)	D434G	probably damaging	Het
Cdh19	T	C	1: 110,847,341 (GRCm39)	T423A	possibly damaging	Het
Chkb	C	T	15: 89,311,986 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,071,913 (GRCm39)	Y623H	probably benign	Het
Clstn3	G	A	6: 124,408,559 (GRCm39)	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,406,906 (GRCm39)	M200L	probably benign	Het
Dnah9	T	A	11: 65,838,506 (GRCm39)	H3097L	probably benign	Het
Dst	T	A	1: 34,314,401 (GRCm39)	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,779,565 (GRCm39)	L80Q	probably damaging	Het
Fgfr1	T	A	8: 26,045,595 (GRCm39)	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,220,264 (GRCm39)	G78*	probably null	Het
Igsf10	A	G	3: 59,237,452 (GRCm39)	S910P	probably benign	Het
Ikzf3	T	C	11: 98,407,718 (GRCm39)	D41G	probably damaging	Het
Larp1	T	A	11: 57,933,648 (GRCm39)	I358N	possibly damaging	Het
Marchf5	C	T	19: 37,188,067 (GRCm39)		probably benign	Het
Mpdz	T	C	4: 81,287,895 (GRCm39)	T455A	probably damaging	Het
Myo1b	A	G	1: 51,815,510 (GRCm39)	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,380,023 (GRCm39)	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,448,918 (GRCm39)	F7L	probably damaging	Het
Npas4	T	C	19: 5,037,355 (GRCm39)	N313S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5	T	A	9: 39,861,921 (GRCm39)	T49S	probably benign	Het
Or13a22	A	G	7: 140,072,751 (GRCm39)	N67D	probably damaging	Het
Or4c107	T	C	2: 88,788,885 (GRCm39)	V25A	probably benign	Het
Pclo	T	C	5: 14,589,647 (GRCm39)	V649A	unknown	Het
Pom121	A	G	5: 135,421,389 (GRCm39)		probably benign	Het
Ptcd2	A	T	13: 99,466,521 (GRCm39)	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,651,290 (GRCm39)	P18L	unknown	Het
Sash1	A	T	10: 8,605,422 (GRCm39)	N989K	probably damaging	Het
Scn2a	T	A	2: 65,546,219 (GRCm39)	H927Q	probably benign	Het
Selenoi	G	T	5: 30,461,222 (GRCm39)	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,642,092 (GRCm39)	I117V	probably benign	Het
Spata1	A	G	3: 146,195,558 (GRCm39)		probably benign	Het
Sptlc3	A	T	2: 139,431,615 (GRCm39)	Y379F	possibly damaging	Het
Tent4a	A	T	13: 69,648,678 (GRCm39)	S693T	probably benign	Het
Tinag	C	T	9: 76,952,885 (GRCm39)	R33K	probably benign	Het
Trappc8	T	C	18: 20,968,061 (GRCm39)	D1092G	probably benign	Het
Xntrpc	A	G	7: 101,722,401 (GRCm39)	E22G	probably damaging	Het
Zgpat	A	G	2: 181,020,682 (GRCm39)	D285G	probably benign	Het

Other mutations in Zbtb7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02812:Zbtb7b	APN	3	89,287,081 (GRCm39)	missense	probably damaging	0.97
R4826:Zbtb7b	UTSW	3	89,288,080 (GRCm39)	missense	probably benign	0.00
R5313:Zbtb7b	UTSW	3	89,288,626 (GRCm39)	missense	probably damaging	0.99
R5354:Zbtb7b	UTSW	3	89,286,913 (GRCm39)	unclassified	probably benign
R7151:Zbtb7b	UTSW	3	89,288,209 (GRCm39)	missense	probably benign	0.00
R7152:Zbtb7b	UTSW	3	89,288,209 (GRCm39)	missense	probably benign	0.00
R7250:Zbtb7b	UTSW	3	89,286,976 (GRCm39)	missense	probably benign	0.00
R7426:Zbtb7b	UTSW	3	89,288,366 (GRCm39)	missense	probably damaging	1.00
R8556:Zbtb7b	UTSW	3	89,300,444 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-12-03