Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02260:Tbp'

286692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbp

Ensembl Gene

ENSMUSG00000014767

Gene Name

TATA box binding protein

Synonyms

Gtf2d

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02260

Quality Score

Status

Chromosome

Chromosomal Location

15720150-15737689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15724878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 133 (S133T)

Ref Sequence

ENSEMBL: ENSMUSP00000113999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014911] [ENSMUST00000117593] [ENSMUST00000118001] [ENSMUST00000119879] [ENSMUST00000143924] [ENSMUST00000147081] [ENSMUST00000153480] [ENSMUST00000162505] [ENSMUST00000159197] [ENSMUST00000155051] [ENSMUST00000232500]

AlphaFold

P29037

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014911
AA Change: S133T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000014911
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117593
AA Change: S133T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112794
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118001
AA Change: S133T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113999
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	204	1.4e-29	PFAM
Pfam:TBP	203	257	4.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119879
AA Change: S133T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114007
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	8.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143924
AA Change: S133T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122696
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147081
AA Change: S133T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120484
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	178	9.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153480

SMART Domains

Protein: ENSMUSP00000114471
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
Pfam:TBP	30	114	5e-35	PFAM
Pfam:TBP	119	205	4.4e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162505
AA Change: S133T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124317
Gene: ENSMUSG00000014767
AA Change: S133T

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	139	221	1.1e-34	PFAM
Pfam:TBP	229	312	8.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159197

SMART Domains

Protein: ENSMUSP00000125691
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155051

SMART Domains

Protein: ENSMUSP00000117551
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232661

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit embryonic lethality caused by hemorrhaging and clotting in the placenta and surviving embryos die prior to weaning. Mice homozygous for another null allele undergo growth arrest after hatching and apoptosis. [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
Adgre1	C	T	17: 57,754,891 (GRCm39)	A663V	probably benign	Het
Atg2b	A	T	12: 105,602,699 (GRCm39)		probably benign	Het
B4galt6	T	C	18: 20,833,804 (GRCm39)	I194V	probably benign	Het
Caprin1	T	C	2: 103,609,714 (GRCm39)	Y188C	probably damaging	Het
Ccdc85a	A	G	11: 28,526,672 (GRCm39)	F284S	possibly damaging	Het
Ccdc88b	A	T	19: 6,832,717 (GRCm39)		probably benign	Het
Cox18	C	T	5: 90,365,384 (GRCm39)	V272I	possibly damaging	Het
Dars1	A	T	1: 128,299,898 (GRCm39)	M362K	probably benign	Het
Ddi1	A	T	9: 6,265,760 (GRCm39)	M203K	probably benign	Het
Dlg4	G	A	11: 69,933,093 (GRCm39)	G500R	probably damaging	Het
Ebf3	G	A	7: 136,807,919 (GRCm39)	P375S	probably damaging	Het
Eif5b	T	A	1: 38,084,537 (GRCm39)	L842M	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm5581	T	C	6: 131,144,909 (GRCm39)		noncoding transcript	Het
Mapk10	A	T	5: 103,186,534 (GRCm39)	D29E	probably benign	Het
Mib2	C	T	4: 155,745,628 (GRCm39)	R61H	probably damaging	Het
Mki67	A	G	7: 135,303,697 (GRCm39)	S724P	probably benign	Het
Mtor	T	C	4: 148,622,758 (GRCm39)	I1946T	probably damaging	Het
Myh14	A	G	7: 44,260,995 (GRCm39)	L1873P	probably damaging	Het
Myom1	C	T	17: 71,415,310 (GRCm39)	Q1226*	probably null	Het
Neb	A	G	2: 52,095,668 (GRCm39)	L4858P	probably damaging	Het
Or51f5	A	T	7: 102,424,114 (GRCm39)	I128F	probably damaging	Het
Or5m9b	C	A	2: 85,905,816 (GRCm39)	T244K	possibly damaging	Het
Or5p76	T	C	7: 108,122,492 (GRCm39)	I222V	probably benign	Het
Pcdhb14	C	T	18: 37,583,086 (GRCm39)	H731Y	probably benign	Het
Prdm16	T	C	4: 154,412,744 (GRCm39)	N1087S	probably benign	Het
Prdm2	C	T	4: 142,861,157 (GRCm39)	G711D	probably damaging	Het
Proser1	G	A	3: 53,386,365 (GRCm39)	G749D	probably damaging	Het
Ptch1	A	T	13: 63,713,166 (GRCm39)		probably benign	Het
Pus10	A	T	11: 23,657,548 (GRCm39)	K233*	probably null	Het
Rasa2	A	G	9: 96,426,372 (GRCm39)	Y825H	probably benign	Het
Tbcd	T	C	11: 121,494,104 (GRCm39)	F969S	probably damaging	Het
Tnks	C	T	8: 35,310,137 (GRCm39)	G1062D	probably damaging	Het
Tnrc6b	T	A	15: 80,764,372 (GRCm39)	S625T	probably damaging	Het
Triobp	T	C	15: 78,850,562 (GRCm39)	S239P	probably benign	Het
Ubiad1	T	C	4: 148,528,564 (GRCm39)	D115G	probably benign	Het
Uckl1	A	G	2: 181,211,381 (GRCm39)	S483P	probably damaging	Het
Vill	A	G	9: 118,887,509 (GRCm39)	D91G	probably benign	Het
Wdr62	C	A	7: 29,970,207 (GRCm39)	C200F	probably damaging	Het
Zfp341	G	A	2: 154,483,969 (GRCm39)	C586Y	possibly damaging	Het
Zfp687	G	A	3: 94,918,575 (GRCm39)	T399I	possibly damaging	Het
Zp1	G	T	19: 10,894,078 (GRCm39)		probably benign	Het
Zzz3	T	A	3: 152,157,720 (GRCm39)	D263E	probably benign	Het

Other mutations in Tbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2424:Tbp	UTSW	17	15,733,795 (GRCm39)	missense	possibly damaging	0.94
R5288:Tbp	UTSW	17	15,727,609 (GRCm39)	missense	probably benign	0.06
R6343:Tbp	UTSW	17	15,721,351 (GRCm39)	splice site	probably null

Posted On

2015-04-16