Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Taf7'

540811

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

045058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6944 (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 37775910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 219 (L219H)

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: L219H

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

SMART Domains

Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: L219H

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: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,863,693 (GRCm39)	V216G	probably damaging	Het
Abcb5	T	C	12: 118,875,265 (GRCm39)	R636G	probably benign	Het
Ago1	G	T	4: 126,354,215 (GRCm39)	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,268,755 (GRCm39)		probably null	Het
Anxa11	T	A	14: 25,875,176 (GRCm39)	F274I	probably damaging	Het
Ascc1	T	C	10: 59,849,475 (GRCm39)	L122P	probably damaging	Het
Bptf	T	C	11: 106,971,649 (GRCm39)	S953G	probably damaging	Het
Chml	T	A	1: 175,515,727 (GRCm39)	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,578,284 (GRCm39)	K262E	probably damaging	Het
Clhc1	T	G	11: 29,519,346 (GRCm39)	D384E	probably damaging	Het
Cnot2	G	A	10: 116,373,128 (GRCm39)		probably benign	Het
Cntnap1	T	C	11: 101,073,730 (GRCm39)	V627A	probably damaging	Het
Col6a4	A	G	9: 105,949,370 (GRCm39)	V755A	probably damaging	Het
Cyp4f18	T	A	8: 72,743,738 (GRCm39)	I406F	probably benign	Het
Dclre1a	T	C	19: 56,533,451 (GRCm39)	E381G	possibly damaging	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Dnah8	C	A	17: 31,013,633 (GRCm39)	D3791E	probably benign	Het
Dnah9	T	C	11: 65,975,975 (GRCm39)	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,945,656 (GRCm39)	R30H	probably benign	Het
Egln3	A	T	12: 54,230,738 (GRCm39)	I181N	probably benign	Het
Entpd6	A	G	2: 150,605,519 (GRCm39)	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,515,091 (GRCm39)	D258G	probably benign	Het
Fbxw18	A	T	9: 109,531,655 (GRCm39)	D21E	probably damaging	Het
Fbxw21	T	C	9: 108,986,603 (GRCm39)	E92G	probably damaging	Het
Fzd6	T	A	15: 38,889,212 (GRCm39)	M110K	possibly damaging	Het
Golgb1	C	T	16: 36,732,475 (GRCm39)	P574L	probably benign	Het
Gpr153	A	G	4: 152,363,820 (GRCm39)	E80G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Kcnt1	T	C	2: 25,767,840 (GRCm39)		probably benign	Het
Kcnt2	T	G	1: 140,511,803 (GRCm39)	V962G	probably benign	Het
Malt1	T	C	18: 65,570,991 (GRCm39)	V109A	probably benign	Het
Marchf7	A	G	2: 60,064,587 (GRCm39)	I288V	probably benign	Het
Mief1	C	T	15: 80,133,644 (GRCm39)	R234C	probably damaging	Het
Morc3	A	G	16: 93,667,460 (GRCm39)	S613G	probably benign	Het
Myt1	A	G	2: 181,439,387 (GRCm39)	E345G	possibly damaging	Het
Napb	T	C	2: 148,548,889 (GRCm39)	T133A	probably benign	Het
Nwd1	T	C	8: 73,380,162 (GRCm39)	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,986,247 (GRCm39)	E67K	probably benign	Het
Obscn	T	C	11: 58,929,756 (GRCm39)	K5153R	probably damaging	Het
Or2w3b	T	A	11: 58,623,068 (GRCm39)	S308C	possibly damaging	Het
Or5a3	G	T	19: 12,400,628 (GRCm39)	M318I	probably benign	Het
Or5g26	C	T	2: 85,494,195 (GRCm39)	M194I	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Pdcd2	T	C	17: 15,745,632 (GRCm39)	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,569,320 (GRCm39)	W349R	probably damaging	Het
Prpf39	T	A	12: 65,089,454 (GRCm39)	V64E	probably benign	Het
Ptpn13	T	A	5: 103,624,857 (GRCm39)	W54R	probably null	Het
Rbms3	G	T	9: 116,939,173 (GRCm39)	P29Q	probably damaging	Het
Rnf123	A	G	9: 107,940,822 (GRCm39)	L679P	probably benign	Het
Samd4	T	A	14: 47,254,092 (GRCm39)	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,413,032 (GRCm39)	V426A	probably benign	Het
Slc12a1	A	G	2: 125,002,454 (GRCm39)	N145D	probably damaging	Het
Slc2a6	A	T	2: 26,916,076 (GRCm39)	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,222,225 (GRCm39)	I306L	probably benign	Het
Slx4ip	A	G	2: 136,910,195 (GRCm39)	K397E	probably damaging	Het
Smr3a	C	T	5: 88,155,949 (GRCm39)		probably benign	Het
Spata31h1	A	C	10: 82,132,056 (GRCm39)	I318R	probably benign	Het
Spef2	T	C	15: 9,592,835 (GRCm39)	E1502G	probably damaging	Het
Sri	A	T	5: 8,113,365 (GRCm39)	T119S	probably benign	Het
Synrg	T	A	11: 83,915,912 (GRCm39)	L1085H	probably damaging	Het
Tmco3	T	A	8: 13,353,729 (GRCm39)	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465 (GRCm39)	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,139,817 (GRCm39)	V239A	probably damaging	Het
Trpm1	T	A	7: 63,893,181 (GRCm39)	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,942,769 (GRCm39)	Y153N	probably benign	Het
Ttll11	T	C	2: 35,642,306 (GRCm39)	H675R	probably benign	Het
Unc50	C	T	1: 37,471,743 (GRCm39)	T131M	probably damaging	Het
Vgf	T	A	5: 137,061,206 (GRCm39)	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,433,483 (GRCm39)	I26V	unknown	Het
Vmn1r39	T	C	6: 66,782,205 (GRCm39)	M1V	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,925 (GRCm39)	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,364,140 (GRCm39)	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,817,891 (GRCm39)	F489L	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,393 (GRCm39)	F817L	possibly 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
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'- TGCTTCTGAATTCCCATAACCAAC -3'
(R):5'- GTCAGAAAGAGACGGTTCCG -3'

Sequencing Primer
(F):5'- CTGAATTCCCATAACCAACTGATTG -3'
(R):5'- GAAGTACATTGAATCTCCGGATGTG -3'

Posted On

2018-11-28