Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Taf15'

330743

Institutional Source

Beutler Lab

Gene Symbol

Taf15

Ensembl Gene

ENSMUSG00000020680

Gene Name

TATA-box binding protein associated factor 15

Synonyms

Taf2n, 68kDa, 2610111C21Rik, TAFII68

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83363912-83397569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83375520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 31 (T31S)

Ref Sequence

ENSEMBL: ENSMUSP00000021018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021018]

AlphaFold

Q8BQ46

Predicted Effect

probably benign
Transcript: ENSMUST00000021018
AA Change: T31S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: T31S

Domain	Start	End	E-Value	Type
low complexity region	4	30	N/A	INTRINSIC
low complexity region	44	70	N/A	INTRINSIC
low complexity region	72	90	N/A	INTRINSIC
low complexity region	103	128	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	173	194	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	223	232	N/A	INTRINSIC
RRM	233	314	1.34e-15	SMART
low complexity region	324	349	N/A	INTRINSIC
ZnF_RBZ	354	380	1.62e-5	SMART
low complexity region	388	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126134

Predicted Effect

probably benign
Transcript: ENSMUST00000133170

SMART Domains

Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	30	39	N/A	INTRINSIC
RRM	40	121	1.34e-15	SMART
low complexity region	131	156	N/A	INTRINSIC
ZnF_RBZ	161	187	1.62e-5	SMART
low complexity region	195	312	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152405

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	probably damaging	Het

Other mutations in Taf15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Taf15	APN	11	83,379,749 (GRCm39)	critical splice acceptor site	probably null
IGL01151:Taf15	APN	11	83,378,197 (GRCm39)	missense	possibly damaging	0.93
R0942:Taf15	UTSW	11	83,389,932 (GRCm39)	missense	probably damaging	1.00
R1530:Taf15	UTSW	11	83,378,122 (GRCm39)	missense	possibly damaging	0.86
R2267:Taf15	UTSW	11	83,388,088 (GRCm39)	missense	probably damaging	0.98
R2437:Taf15	UTSW	11	83,395,579 (GRCm39)	intron	probably benign
R3123:Taf15	UTSW	11	83,395,154 (GRCm39)	critical splice donor site	probably null
R3155:Taf15	UTSW	11	83,393,599 (GRCm39)	missense	probably benign	0.03
R3784:Taf15	UTSW	11	83,397,248 (GRCm39)	missense	unknown
R4951:Taf15	UTSW	11	83,375,637 (GRCm39)	missense	possibly damaging	0.64
R5104:Taf15	UTSW	11	83,378,222 (GRCm39)	missense	probably damaging	1.00
R6814:Taf15	UTSW	11	83,389,915 (GRCm39)	missense	probably damaging	1.00
R6987:Taf15	UTSW	11	83,375,521 (GRCm39)	missense	possibly damaging	0.48
R7328:Taf15	UTSW	11	83,375,658 (GRCm39)	missense	possibly damaging	0.96
R7431:Taf15	UTSW	11	83,395,779 (GRCm39)	missense	unknown
R7624:Taf15	UTSW	11	83,395,849 (GRCm39)	missense	unknown
R8432:Taf15	UTSW	11	83,395,851 (GRCm39)	small deletion	probably benign
R8523:Taf15	UTSW	11	83,375,678 (GRCm39)	nonsense	probably null
R8725:Taf15	UTSW	11	83,389,964 (GRCm39)	missense	probably benign	0.26
R9127:Taf15	UTSW	11	83,395,085 (GRCm39)	nonsense	probably null
R9571:Taf15	UTSW	11	83,395,487 (GRCm39)	nonsense	probably null
X0028:Taf15	UTSW	11	83,378,222 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTAAGAGACAGGCAGAATTGTC -3'
(R):5'- CCACCATAGTTTTGTCCATACGAAG -3'

Sequencing Primer
(F):5'- GGCAGAATTGTCGTTTAAAAGTAAGC -3'
(R):5'- CGAAGAATCAGTCGTTTGCC -3'

Posted On

2015-07-21