Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Taf15'

569065

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

045421-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83363912-83397569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83375658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 41 (T41M)

Ref Sequence

ENSEMBL: ENSMUSP00000021018 (fasta)

Gene Model

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

AlphaFold

Q8BQ46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021018
AA Change: T41M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: T41M

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	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
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
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'- GCTCTGTTGAAAGCAAGTTTTG -3'
(R):5'- GCTGGCCATATGAACTCTGC -3'

Sequencing Primer
(F):5'- ATCAAGGCAGTCAAGGCT -3'
(R):5'- GGCCATATGAACTCTGCTTTTG -3'

Posted On

2019-09-13