Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Taf9'

701387

Institutional Source

Beutler Lab

Gene Symbol

Taf9

Ensembl Gene

ENSMUSG00000052293

Gene Name

TATA-box binding protein associated factor 9

Synonyms

Taf2g, 2310012M09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100788087-100792568 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 100790860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022135] [ENSMUST00000022136] [ENSMUST00000084721] [ENSMUST00000167256] [ENSMUST00000177848] [ENSMUST00000185767] [ENSMUST00000187792] [ENSMUST00000190165] [ENSMUST00000190594] [ENSMUST00000190729] [ENSMUST00000226050]

AlphaFold

Q8VI33

Predicted Effect

probably benign
Transcript: ENSMUST00000022135

SMART Domains

Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941

Domain	Start	End	E-Value	Type
Pfam:AAA_17	5	113	1.1e-13	PFAM
Pfam:AAA	6	45	3.6e-6	PFAM
Pfam:AAA_18	6	126	2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022136

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084721

SMART Domains

Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	7.3e-65	PFAM
Pfam:Histone	12	78	2.7e-7	PFAM
Pfam:CENP-S	16	80	7.6e-10	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167256

SMART Domains

Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	9	129	1.4e-52	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177848

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185767

SMART Domains

Protein: ENSMUSP00000140423
Gene: ENSMUSG00000052293

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	2.2e-62	PFAM
Pfam:Bromo_TP	12	77	7.6e-5	PFAM
Pfam:CENP-S	15	80	5.7e-7	PFAM
Pfam:Histone	16	78	1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187792

SMART Domains

Protein: ENSMUSP00000140051
Gene: ENSMUSG00000052293

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	3e-62	PFAM
Pfam:CENP-S	15	80	6.9e-7	PFAM
Pfam:Histone	16	78	1.3e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190165

SMART Domains

Protein: ENSMUSP00000139407
Gene: ENSMUSG00000052293

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	3.8e-62	PFAM
Pfam:CENP-S	15	80	7.9e-7	PFAM
Pfam:Histone	16	78	1.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190594

SMART Domains

Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293

Domain	Start	End	E-Value	Type
Pfam:TFIID-31kDa	2	130	7.3e-65	PFAM
Pfam:Histone	12	78	2.7e-7	PFAM
Pfam:CENP-S	16	80	7.6e-10	PFAM
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190729

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

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 one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,002 (GRCm39)	N132S	probably benign	Het
Agpat2	A	G	2: 26,483,601 (GRCm39)	*279Q	probably null	Het
Akr1c19	C	A	13: 4,292,974 (GRCm39)	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001 (GRCm39)	F96L	probably benign	Het
Apob	C	T	12: 8,065,231 (GRCm39)	Q4067*	probably null	Het
C1ra	A	T	6: 124,489,580 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,703,199 (GRCm39)	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,576,221 (GRCm39)	V156A	probably benign	Het
Ces1g	A	G	8: 94,060,319 (GRCm39)	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113 (GRCm39)	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,211,094 (GRCm39)	A65T	probably benign	Het
Dcaf5	T	C	12: 80,386,563 (GRCm39)	D521G	probably benign	Het
Dnmt1	A	G	9: 20,833,408 (GRCm39)	F631L	possibly damaging	Het
Dok1	T	A	6: 83,008,893 (GRCm39)	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,081,112 (GRCm39)	F293L	probably benign	Het
Ehmt1	A	T	2: 24,738,077 (GRCm39)	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,231,556 (GRCm39)	V551E	possibly damaging	Het
Fig4	C	T	10: 41,153,478 (GRCm39)	V108I	probably benign	Het
Gpa33	A	G	1: 165,991,396 (GRCm39)	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,963,026 (GRCm39)	H52R		Het
Heatr9	A	T	11: 83,409,281 (GRCm39)	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,685,242 (GRCm39)	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Layn	A	G	9: 50,968,760 (GRCm39)	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mboat1	A	G	13: 30,410,392 (GRCm39)	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,736,226 (GRCm39)	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,485,167 (GRCm39)	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Or5p59	T	C	7: 107,703,256 (GRCm39)	S247P	probably damaging	Het
Or8c16	T	C	9: 38,130,706 (GRCm39)	Y193H	probably benign	Het
Ostm1	T	C	10: 42,574,210 (GRCm39)	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,577,608 (GRCm39)	D662V	probably damaging	Het
Pfpl	T	A	19: 12,406,374 (GRCm39)	S208R	probably damaging	Het
Plin5	A	T	17: 56,419,324 (GRCm39)	V366E	probably damaging	Het
Rmi1	A	G	13: 58,556,899 (GRCm39)	I383V	probably benign	Het
Rnh1	T	C	7: 140,740,714 (GRCm39)	T414A	probably benign	Het
Sash1	C	A	10: 8,617,296 (GRCm39)	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,370,551 (GRCm39)	N264S	probably benign	Het
Speg	A	C	1: 75,398,420 (GRCm39)	T1956P	probably damaging	Het
St14	T	C	9: 31,002,905 (GRCm39)	Y666C	probably damaging	Het
Stab2	T	A	10: 86,727,481 (GRCm39)	H1448L	probably damaging	Het
Syne2	C	T	12: 76,154,230 (GRCm39)		probably benign	Het
Thumpd2	G	A	17: 81,334,040 (GRCm39)	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,335,308 (GRCm39)	K797E	probably damaging	Het
Tpte	A	G	8: 22,841,489 (GRCm39)	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,567,113 (GRCm39)	L593Q	probably benign	Het
Uggt1	A	C	1: 36,249,103 (GRCm39)	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,804,084 (GRCm39)	F277S	probably damaging	Het
Vat1	A	T	11: 101,351,380 (GRCm39)	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,336,256 (GRCm39)	A592E		Het
Zfp780b	C	T	7: 27,673,143 (GRCm39)		probably null	Het
Zfp944	A	T	17: 22,562,619 (GRCm39)		probably null	Het
Zfp956	G	T	6: 47,934,437 (GRCm39)	G136W	possibly damaging	Het

Predicted Primers

PCR Primer
(F):5'- TTACAGGTACACCAGGGGTTG -3'
(R):5'- CCTTTGTGTCTGCTGAACACAG -3'

Sequencing Primer
(F):5'- TGGAAAAACCACACTAGGCAAAG -3'
(R):5'- TCTATCGAGTCTCCTAACAGAAACTC -3'

Posted On

2022-03-25