Mutagenetix > Incidental Mutation

Incidental Mutation 'R4411:Taf5'

327948

Institutional Source

Beutler Lab

Gene Symbol

Taf5

Ensembl Gene

ENSMUSG00000025049

Gene Name

TATA-box binding protein associated factor 5

Synonyms

6330528C20Rik

MMRRC Submission

041693-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47056187-47071918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47059453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 199 (V199D)

Ref Sequence

ENSEMBL: ENSMUSP00000026027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026027]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026027
AA Change: V199D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: V199D

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	29	92	N/A	INTRINSIC
LisH	93	125	6.52e-2	SMART
low complexity region	132	150	N/A	INTRINSIC
Pfam:TFIID_NTD2	206	338	4.5e-55	PFAM
low complexity region	389	417	N/A	INTRINSIC
WD40	460	499	8.36e-2	SMART
WD40	533	572	1.82e-11	SMART
WD40	575	614	1.19e-6	SMART
WD40	617	656	9.08e-12	SMART
WD40	659	698	1.4e-12	SMART
WD40	701	740	2.57e-11	SMART

Meta Mutation Damage Score

0.2089

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (62/65)

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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,781 (GRCm39)	I423V	probably benign	Het
Abl2	T	C	1: 156,457,652 (GRCm39)	V306A	possibly damaging	Het
Adcy4	T	C	14: 56,006,900 (GRCm39)	Y1006C	probably damaging	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Arid5b	T	C	10: 67,932,519 (GRCm39)	R885G	probably damaging	Het
Atp9a	A	T	2: 168,503,853 (GRCm39)	V613E	probably damaging	Het
Atxn7l1	G	T	12: 33,244,886 (GRCm39)		probably benign	Het
Brd8	C	A	18: 34,756,497 (GRCm39)		probably benign	Het
Bsnd	C	T	4: 106,343,868 (GRCm39)	R146H	probably benign	Het
C4b	C	T	17: 34,947,838 (GRCm39)	R1659H	probably damaging	Het
Duox1	G	A	2: 122,168,115 (GRCm39)	R1080H	probably benign	Het
Eml2	T	C	7: 18,916,326 (GRCm39)		probably null	Het
Fbxo44	G	A	4: 148,238,065 (GRCm39)	R221C	probably damaging	Het
Frem1	T	C	4: 82,881,481 (GRCm39)	D166G	probably damaging	Het
Galnt5	T	C	2: 57,889,207 (GRCm39)	L269P	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Gpc6	T	C	14: 118,188,590 (GRCm39)	V408A	probably benign	Het
Hspg2	A	G	4: 137,289,535 (GRCm39)	T3832A	probably benign	Het
Ift88	A	G	14: 57,715,436 (GRCm39)	N493S	probably damaging	Het
Ighv1-76	A	T	12: 115,811,731 (GRCm39)	C41S	probably damaging	Het
Igkv12-46	G	A	6: 69,741,930 (GRCm39)	T16I	probably benign	Het
Igkv3-9	G	T	6: 70,565,547 (GRCm39)	V49F	probably damaging	Het
Isoc2b	A	T	7: 4,852,433 (GRCm39)		probably benign	Het
Lcp2	T	A	11: 34,037,173 (GRCm39)		probably benign	Het
Lmntd1	A	G	6: 145,373,003 (GRCm39)		probably null	Het
Mdm2	A	T	10: 117,545,694 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Msh2	T	C	17: 88,025,032 (GRCm39)	S637P	probably damaging	Het
Myo5b	T	C	18: 74,831,345 (GRCm39)	F765S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Ndor1	G	A	2: 25,138,492 (GRCm39)	P363S	probably benign	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Pcdhb5	T	C	18: 37,455,050 (GRCm39)	S477P	possibly damaging	Het
Pde3b	GTGATGATGATGATGATGATGATGATG	GTGATGATGATGATGATGATGATG	7: 114,133,984 (GRCm39)		probably benign	Het
Pnpla7	G	A	2: 24,941,716 (GRCm39)	W13*	probably null	Het
Pnpla8	T	C	12: 44,330,225 (GRCm39)	V41A	probably benign	Het
Prdm2	A	T	4: 142,860,240 (GRCm39)	S1017T	probably benign	Het
Prdm5	T	A	6: 65,878,771 (GRCm39)	Y108*	probably null	Het
Rab34	T	A	11: 78,079,592 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,275,623 (GRCm39)	E410G	possibly damaging	Het
Smpd5	G	T	15: 76,179,112 (GRCm39)	R160L	possibly damaging	Het
Spmip10	A	G	18: 56,727,720 (GRCm39)	T65A	probably benign	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Tas2r114	C	T	6: 131,666,585 (GRCm39)	V148I	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnfrsf25	G	A	4: 152,202,843 (GRCm39)		probably benign	Het
Tpd52l1	T	C	10: 31,255,315 (GRCm39)	T11A	possibly damaging	Het
Trmt1l	G	A	1: 151,327,905 (GRCm39)	E472K	probably benign	Het
Ttc17	T	C	2: 94,173,098 (GRCm39)	K766E	probably damaging	Het
Ttn	C	T	2: 76,560,633 (GRCm39)	R29256Q	probably damaging	Het
Ttn	T	C	2: 76,572,414 (GRCm39)	I26160V	probably damaging	Het
Ubxn6	A	T	17: 56,376,303 (GRCm39)	V311E	probably damaging	Het
Usp2	T	C	9: 44,002,360 (GRCm39)	S351P	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Zfp455	A	T	13: 67,355,389 (GRCm39)	N219I	probably damaging	Het

Other mutations in Taf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Taf5	APN	19	47,070,740 (GRCm39)	missense	probably damaging	1.00
IGL01115:Taf5	APN	19	47,063,521 (GRCm39)	missense	probably benign	0.01
IGL02168:Taf5	APN	19	47,070,917 (GRCm39)	missense	probably damaging	0.98
IGL02638:Taf5	APN	19	47,056,649 (GRCm39)	missense	probably benign	0.00
IGL02689:Taf5	APN	19	47,065,704 (GRCm39)	splice site	probably benign
R0008:Taf5	UTSW	19	47,064,301 (GRCm39)	missense	possibly damaging	0.94
R0008:Taf5	UTSW	19	47,064,301 (GRCm39)	missense	possibly damaging	0.94
R0220:Taf5	UTSW	19	47,068,999 (GRCm39)	missense	probably damaging	1.00
R0685:Taf5	UTSW	19	47,063,293 (GRCm39)	missense	probably benign	0.10
R1518:Taf5	UTSW	19	47,070,285 (GRCm39)	missense	probably damaging	1.00
R2329:Taf5	UTSW	19	47,063,563 (GRCm39)	missense	probably benign	0.07
R3431:Taf5	UTSW	19	47,064,272 (GRCm39)	missense	probably damaging	1.00
R3432:Taf5	UTSW	19	47,064,272 (GRCm39)	missense	probably damaging	1.00
R3689:Taf5	UTSW	19	47,067,224 (GRCm39)	missense	probably damaging	0.99
R4413:Taf5	UTSW	19	47,059,453 (GRCm39)	missense	probably damaging	1.00
R4676:Taf5	UTSW	19	47,063,409 (GRCm39)	missense	probably damaging	1.00
R5370:Taf5	UTSW	19	47,064,203 (GRCm39)	missense	probably damaging	0.99
R5875:Taf5	UTSW	19	47,064,549 (GRCm39)	missense	probably damaging	1.00
R5883:Taf5	UTSW	19	47,056,228 (GRCm39)	missense	unknown
R5937:Taf5	UTSW	19	47,070,334 (GRCm39)	missense	probably damaging	1.00
R6835:Taf5	UTSW	19	47,065,776 (GRCm39)	missense	possibly damaging	0.94
R7007:Taf5	UTSW	19	47,059,650 (GRCm39)	missense	probably damaging	1.00
R8198:Taf5	UTSW	19	47,064,212 (GRCm39)	missense	probably damaging	0.97
R9151:Taf5	UTSW	19	47,063,370 (GRCm39)	missense	probably damaging	0.98
R9500:Taf5	UTSW	19	47,065,771 (GRCm39)	missense	probably damaging	1.00
R9762:Taf5	UTSW	19	47,059,434 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCTGCTAGCCTCATCACAG -3'
(R):5'- CCAAGGCACCTGTCCTTCTG -3'

Sequencing Primer
(F):5'- AAGGAAAAGATGCGTGGTTGTGTTG -3'
(R):5'- AAGGCACCTGTCCTTCTGATTTAC -3'

Posted On

2015-07-07