Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02812:Zbtb7b'

360624

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: 0.840) question?

Stock #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

89284953-89300976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89287081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 463 (T463A)

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

probably damaging
Transcript: ENSMUST00000029677
AA Change: T463A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: T463A

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: T463A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: T463A

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: T463A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: T463A

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: T463A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: T463A

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,841,881 (GRCm39)	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,643,516 (GRCm39)	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,945,873 (GRCm39)	E2V	possibly damaging	Het
Aox3	G	A	1: 58,205,055 (GRCm39)	V757I	probably benign	Het
Aqp4	T	C	18: 15,530,632 (GRCm39)		probably null	Het
Arhgef7	A	G	8: 11,831,245 (GRCm39)		probably benign	Het
Armc9	T	A	1: 86,172,293 (GRCm39)	D2E	probably damaging	Het
Celsr2	G	A	3: 108,321,429 (GRCm39)	P461L	probably benign	Het
Cep170	T	C	1: 176,570,080 (GRCm39)	D1339G	probably damaging	Het
Clk1	T	A	1: 58,453,635 (GRCm39)	N317I	probably damaging	Het
Comp	G	A	8: 70,829,337 (GRCm39)	G305S	possibly damaging	Het
Depdc5	G	A	5: 33,050,712 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,059,712 (GRCm39)	E131G	probably damaging	Het
Ecpas	T	A	4: 58,864,343 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Epha2	A	G	4: 141,046,230 (GRCm39)		probably benign	Het
Fam243	A	G	16: 92,117,616 (GRCm39)	I224T	probably damaging	Het
Fmnl1	A	G	11: 103,087,592 (GRCm39)		probably benign	Het
Gbp9	T	C	5: 105,231,624 (GRCm39)	N321D	probably damaging	Het
Gm5884	A	G	6: 128,622,738 (GRCm39)		noncoding transcript	Het
Gp2	A	T	7: 119,051,452 (GRCm39)	N254K	probably benign	Het
Hgh1	T	A	15: 76,253,754 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,284,030 (GRCm39)	N543S	probably damaging	Het
Ints7	T	C	1: 191,351,853 (GRCm39)	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,320,879 (GRCm39)		probably benign	Het
Lrrtm4	A	T	6: 79,998,947 (GRCm39)	N120Y	probably damaging	Het
Map3k5	T	C	10: 19,900,782 (GRCm39)	S319P	probably damaging	Het
Mc4r	A	G	18: 66,992,318 (GRCm39)	L265S	probably damaging	Het
Morc1	T	C	16: 48,378,869 (GRCm39)		probably benign	Het
Mre11a	T	A	9: 14,701,966 (GRCm39)		probably null	Het
Msh4	T	C	3: 153,607,037 (GRCm39)		probably benign	Het
Mterf4	A	G	1: 93,232,455 (GRCm39)	L132P	probably damaging	Het
Myo15a	A	T	11: 60,368,005 (GRCm39)	E255V	probably benign	Het
Myot	T	C	18: 44,479,127 (GRCm39)	V288A	probably damaging	Het
Nipa2	T	C	7: 55,592,766 (GRCm39)	Y53C	probably damaging	Het
Npas1	T	A	7: 16,190,041 (GRCm39)	I502F	probably damaging	Het
Or12j5	C	T	7: 140,083,533 (GRCm39)	V280M	probably damaging	Het
Or2y1d	T	A	11: 49,321,749 (GRCm39)	W149R	probably damaging	Het
Osbp2	A	G	11: 3,664,637 (GRCm39)	V565A	probably benign	Het
Otof	A	G	5: 30,531,426 (GRCm39)	S1666P	probably benign	Het
Per3	A	C	4: 151,108,927 (GRCm39)	S476A	probably damaging	Het
Pja2	T	C	17: 64,604,789 (GRCm39)	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,082,290 (GRCm39)	F512S	probably damaging	Het
Plcd4	T	A	1: 74,596,967 (GRCm39)	L403Q	probably damaging	Het
Psg26	T	C	7: 18,209,080 (GRCm39)	T443A	probably benign	Het
Snapc4	T	A	2: 26,259,384 (GRCm39)	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755 (GRCm39)	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406 (GRCm39)	D268G	probably benign	Het
Tfap2d	A	G	1: 19,213,151 (GRCm39)	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,176 (GRCm39)	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,180,945 (GRCm39)	E70K	probably benign	Het
Wdr18	T	A	10: 79,796,898 (GRCm39)	N91K	possibly damaging	Het

Other mutations in Zbtb7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Zbtb7b	APN	3	89,287,278 (GRCm39)	missense	possibly damaging	0.88
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

2015-12-18