Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Taf7'

558521

Institutional Source

Beutler Lab

Gene Symbol

Taf7

Ensembl Gene

ENSMUSG00000051316

Gene Name

TATA-box binding protein associated factor 7

Synonyms

TAFII55, Taf2f, 55kDa

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37773544-37777257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37776053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 171 (S171R)

Ref Sequence

ENSEMBL: ENSMUSP00000065645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058635] [ENSMUST00000066272] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q9R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000058635

SMART Domains

Protein: ENSMUSP00000052849
Gene: ENSMUSG00000050304

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	60	5.9e-11	PFAM
Pfam:Mito_carr	67	165	9.5e-20	PFAM
Pfam:Mito_carr	169	262	8.9e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066272
AA Change: S171R

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

SMART Domains

Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: S171R

Domain	Start	End	E-Value	Type
TAFII55_N	12	178	4.63e-94	SMART
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	237	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Meta Mutation Damage Score

0.0854

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E5.5. Mice homozygous for a conditional allele activated in thymocytes exhibit impaired T cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably damaging	Het

Other mutations in Taf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Taf7	APN	18	37,776,486 (GRCm39)	missense	probably damaging	1.00
IGL02123:Taf7	APN	18	37,775,533 (GRCm39)	intron	probably benign
IGL02155:Taf7	APN	18	37,776,564 (GRCm39)	start codon destroyed	probably null	0.95
IGL02291:Taf7	APN	18	37,776,415 (GRCm39)	missense	possibly damaging	0.76
R3961:Taf7	UTSW	18	37,776,174 (GRCm39)	missense	probably benign	0.29
R4590:Taf7	UTSW	18	37,775,784 (GRCm39)	missense	possibly damaging	0.75
R5629:Taf7	UTSW	18	37,776,555 (GRCm39)	missense	probably benign
R5982:Taf7	UTSW	18	37,776,498 (GRCm39)	missense	probably damaging	1.00
R6492:Taf7	UTSW	18	37,776,159 (GRCm39)	missense	probably damaging	1.00
R6896:Taf7	UTSW	18	37,775,733 (GRCm39)	missense	possibly damaging	0.88
R6944:Taf7	UTSW	18	37,775,910 (GRCm39)	missense	probably damaging	1.00
R7154:Taf7	UTSW	18	37,775,601 (GRCm39)	missense	possibly damaging	0.57
R8371:Taf7	UTSW	18	37,776,552 (GRCm39)	missense	probably damaging	1.00
R9006:Taf7	UTSW	18	37,775,757 (GRCm39)	missense	probably benign	0.01
R9042:Taf7	UTSW	18	37,776,223 (GRCm39)	missense	probably damaging	1.00
R9258:Taf7	UTSW	18	37,776,021 (GRCm39)	missense	probably damaging	1.00
R9707:Taf7	UTSW	18	37,776,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTGCTGAGGTCATTGAATATC -3'
(R):5'- TAGCCACAGTAGATGGTGACC -3'

Sequencing Primer
(F):5'- GAATATCTCTCGAAGCTCATCATGC -3'
(R):5'- AGTAGATGGTGACCTATACCCTC -3'

Posted On

2019-06-26