Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Taf7'

523025

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

044624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37773544-37777257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37776159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 136 (I136T)

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: I136T

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

SMART Domains

Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: I136T

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

0.5507

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	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
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
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'- ACATTCCTGGAGAAGAGATGTCC -3'
(R):5'- GCCTTGTGTTACGGAAAGCTTG -3'

Sequencing Primer
(F):5'- AAGAGATGTCCAGGCCTTGATTTTC -3'
(R):5'- GTGTTACGGAAAGCTTGAAAACCATC -3'

Posted On

2018-06-06