Mutagenetix > Incidental Mutation

Incidental Mutation 'R6896:Taf7'

538357

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

044990-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37773544-37777257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37775733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

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

possibly damaging
Transcript: ENSMUST00000066272
AA Change: D278G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: D278G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,660,298 (GRCm39)	L454P	probably damaging	Het
Acadm	T	C	3: 153,641,957 (GRCm39)	I192V	probably damaging	Het
Acadsb	T	A	7: 131,045,375 (GRCm39)	Y436N	probably benign	Het
Ache	G	A	5: 137,289,996 (GRCm39)	V442M	probably damaging	Het
Adam39	A	T	8: 41,277,975 (GRCm39)	N122I	possibly damaging	Het
Akap6	A	T	12: 52,934,277 (GRCm39)	I590F	probably benign	Het
Akap8	T	C	17: 32,536,305 (GRCm39)	N36S	probably benign	Het
Asap2	T	C	12: 21,315,526 (GRCm39)	S933P	probably damaging	Het
C3	C	T	17: 57,527,864 (GRCm39)		probably null	Het
Cdon	T	A	9: 35,363,402 (GRCm39)	M1K	probably null	Het
Cemip	T	A	7: 83,647,784 (GRCm39)	I99F	probably damaging	Het
Cfap251	A	G	5: 123,416,421 (GRCm39)	T565A	possibly damaging	Het
Cfap58	T	G	19: 47,932,626 (GRCm39)	L130R	probably damaging	Het
Clca3a2	T	C	3: 144,514,462 (GRCm39)	D415G	probably damaging	Het
Coch	A	G	12: 51,649,652 (GRCm39)	D321G	possibly damaging	Het
Dync2i1	C	T	12: 116,193,291 (GRCm39)	G554R	possibly damaging	Het
Efcab11	A	G	12: 99,849,674 (GRCm39)		probably benign	Het
Ermap	G	T	4: 119,044,328 (GRCm39)	S156*	probably null	Het
Fap	G	T	2: 62,334,944 (GRCm39)	Y620*	probably null	Het
Galntl5	T	C	5: 25,394,947 (GRCm39)		probably null	Het
Il21r	C	A	7: 125,226,128 (GRCm39)	H76N	probably damaging	Het
Itpr1	T	G	6: 108,458,355 (GRCm39)	Y2041D	probably damaging	Het
Megf8	T	A	7: 25,029,357 (GRCm39)	N300K	probably benign	Het
Muc2	G	A	7: 141,306,432 (GRCm39)	V285I	possibly damaging	Het
Myh15	A	T	16: 48,933,434 (GRCm39)	Q623L	probably benign	Het
Myh7b	T	C	2: 155,464,488 (GRCm39)		probably null	Het
Naaladl1	T	A	19: 6,159,335 (GRCm39)		probably null	Het
Nlrp9b	T	G	7: 19,757,170 (GRCm39)	F136V	probably damaging	Het
Oprd1	A	T	4: 131,844,612 (GRCm39)	M132K	probably damaging	Het
Or10a3b	T	C	7: 108,444,750 (GRCm39)	T156A	probably benign	Het
Or4s2b	A	G	2: 88,508,340 (GRCm39)	N47S	probably damaging	Het
Or6c70	A	T	10: 129,710,623 (GRCm39)	M1K	probably null	Het
Or9g4	A	G	2: 85,505,277 (GRCm39)	Y73H	probably damaging	Het
Patj	T	A	4: 98,314,287 (GRCm39)	V369D	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,265 (GRCm39)	L77P	probably damaging	Het
Pcf11	T	C	7: 92,298,759 (GRCm39)	D1259G	probably damaging	Het
Pdcl	A	T	2: 37,242,191 (GRCm39)	H186Q	probably damaging	Het
Pdzd9	A	T	7: 120,262,095 (GRCm39)	*77R	probably null	Het
Reln	C	T	5: 22,104,177 (GRCm39)	E3265K	probably benign	Het
Smg8	T	C	11: 86,968,787 (GRCm39)	T990A	possibly damaging	Het
Smok2a	C	T	17: 13,444,758 (GRCm39)	H112Y	probably benign	Het
Spatc1l	G	A	10: 76,405,242 (GRCm39)	R208H	probably damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn2r78	C	T	7: 86,571,558 (GRCm39)	T456I	probably benign	Het
Vwf	T	C	6: 125,543,157 (GRCm39)	S148P	probably damaging	Het
Xpot	A	C	10: 121,449,390 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,348,031 (GRCm39)	R2137W	probably damaging	Het
Zfp462	T	A	4: 55,009,544 (GRCm39)	N503K	possibly damaging	Het
Zfp641	T	A	15: 98,191,684 (GRCm39)	M1L	probably benign	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
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
R7174:Taf7	UTSW	18	37,776,053 (GRCm39)	missense	probably damaging	1.00
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'- GTCAACAAGCTCACTTCTCCAG -3'
(R):5'- TCACTAGAGCATGATGAGCTTC -3'

Sequencing Primer
(F):5'- AGAAGTGATTCCAGCTCTTCCTG -3'
(R):5'- TCGAGAGATATTCAATGACCTCAGC -3'

Posted On

2018-11-06