Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Taf15'

166567

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

039569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83363912-83397569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83378122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 121 (Y121H)

Ref Sequence

ENSEMBL: ENSMUSP00000021018 (fasta)

Gene Model

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

AlphaFold

Q8BQ46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021018
AA Change: Y121H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: Y121H

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,640 (GRCm39)	C425R	probably damaging	Het
Adam15	A	G	3: 89,257,137 (GRCm39)	S20P	probably damaging	Het
Adgra3	G	A	5: 50,118,479 (GRCm39)	T1023I	probably benign	Het
Angel2	T	A	1: 190,671,285 (GRCm39)	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,697,358 (GRCm39)	M321K	probably damaging	Het
Atad2b	C	T	12: 4,992,018 (GRCm39)	R206*	probably null	Het
Atp10b	T	A	11: 43,088,351 (GRCm39)	F319Y	probably benign	Het
AW554918	A	G	18: 25,533,161 (GRCm39)	R272G	probably damaging	Het
Bpi	T	A	2: 158,103,065 (GRCm39)	I70N	probably damaging	Het
Brca1	T	C	11: 101,415,521 (GRCm39)	D871G	probably damaging	Het
Capn3	G	A	2: 120,312,689 (GRCm39)	A160T	probably damaging	Het
Cenpe	T	C	3: 134,952,663 (GRCm39)	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,969,937 (GRCm39)	M1T	probably null	Het
Csrnp1	G	C	9: 119,802,612 (GRCm39)	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,621,074 (GRCm39)	P545S	probably damaging	Het
Erap1	A	G	13: 74,794,662 (GRCm39)	E107G	probably benign	Het
Errfi1	A	G	4: 150,949,843 (GRCm39)	I49V	probably benign	Het
Fam171b	T	C	2: 83,710,533 (GRCm39)	L735S	probably damaging	Het
Fancm	T	A	12: 65,139,264 (GRCm39)		probably null	Het
Fbp2	G	C	13: 62,984,973 (GRCm39)	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,732,976 (GRCm39)	G255V	probably damaging	Het
Fhip2a	T	A	19: 57,374,737 (GRCm39)	I704N	probably damaging	Het
Fzd2	T	C	11: 102,496,134 (GRCm39)	S193P	probably benign	Het
Gak	A	G	5: 108,772,059 (GRCm39)	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,269,631 (GRCm39)	I7T	probably benign	Het
Gbp11	T	C	5: 105,475,355 (GRCm39)	H331R	probably damaging	Het
Gpr19	C	T	6: 134,846,961 (GRCm39)	V241M	probably damaging	Het
Grk6	G	A	13: 55,606,612 (GRCm39)	A437T	probably damaging	Het
Hip1	T	C	5: 135,473,634 (GRCm39)	D253G	probably damaging	Het
Ifna9	G	C	4: 88,510,409 (GRCm39)	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,351,521 (GRCm39)	T384A	probably benign	Het
Ip6k1	C	A	9: 107,922,761 (GRCm39)	C221*	probably null	Het
Kcna1	C	A	6: 126,619,494 (GRCm39)	E275D	probably benign	Het
Kcnt2	C	T	1: 140,411,970 (GRCm39)	Q468*	probably null	Het
Kin	T	C	2: 10,097,150 (GRCm39)	V333A	probably damaging	Het
Leprot	G	T	4: 101,513,484 (GRCm39)	V91L	probably benign	Het
Mettl21c	A	G	1: 44,056,344 (GRCm39)		probably null	Het
Myom2	T	C	8: 15,172,384 (GRCm39)	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,168 (GRCm39)	*72K	probably null	Het
Nol3	T	C	8: 106,005,858 (GRCm39)	V84A	probably benign	Het
Or2y16	C	T	11: 49,334,732 (GRCm39)	S18L	probably benign	Het
Or4c101	A	T	2: 88,389,827 (GRCm39)	I5F	probably benign	Het
Or8b42	T	C	9: 38,341,620 (GRCm39)	I14T	probably damaging	Het
Pcare	A	G	17: 72,056,473 (GRCm39)	V1068A	probably benign	Het
Pdgfra	T	A	5: 75,349,671 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,936,026 (GRCm39)	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,311,996 (GRCm39)	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,051,395 (GRCm39)	S275P	probably benign	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rapgef6	T	A	11: 54,552,009 (GRCm39)	I959K	probably damaging	Het
Scn5a	T	C	9: 119,324,628 (GRCm39)	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,793,458 (GRCm39)	S263P	probably damaging	Het
Setd5	G	A	6: 113,086,874 (GRCm39)	V34I	probably damaging	Het
Slc34a1	A	G	13: 24,003,052 (GRCm39)	D234G	probably damaging	Het
Spink5	T	A	18: 44,148,738 (GRCm39)	S934T	probably damaging	Het
St18	A	C	1: 6,915,793 (GRCm39)		probably null	Het
St3gal4	T	C	9: 34,963,592 (GRCm39)	I239V	probably benign	Het
Stag3	C	T	5: 138,295,674 (GRCm39)	T399I	probably damaging	Het
Syt11	T	C	3: 88,669,674 (GRCm39)	K6E	probably damaging	Het
Tdh	T	C	14: 63,733,504 (GRCm39)	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688 (GRCm39)	W406R	probably damaging	Het
Tgm6	A	G	2: 129,993,202 (GRCm39)	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,866,090 (GRCm39)		probably null	Het
Tmub2	T	C	11: 102,178,312 (GRCm39)	S72P	probably benign	Het
Trappc13	G	A	13: 104,286,651 (GRCm39)	T202I	probably damaging	Het
Trim9	T	C	12: 70,319,202 (GRCm39)	E449G	probably damaging	Het
Trip11	C	A	12: 101,879,026 (GRCm39)	G21V	unknown	Het
Ttll12	G	A	15: 83,472,856 (GRCm39)	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,703,447 (GRCm39)	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,369,103 (GRCm39)	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,751,262 (GRCm39)	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfhx3	C	T	8: 109,675,121 (GRCm39)	P2057L	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
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
R4491:Taf15	UTSW	11	83,375,520 (GRCm39)	missense	probably benign	0.08
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'- AACAACTTCAGTTTTCCCTTTTGGCATC -3'
(R):5'- TTCGTTGCCCATGAGAAATCTATTTCCA -3'

Sequencing Primer
(F):5'- atttttcttcttaactcctgagcc -3'
(R):5'- GAGAAATCTATTTCCAGTCATGCC -3'

Posted On

2014-04-13