Mutagenetix > Incidental Mutation

Incidental Mutation 'R6987:Taf15'

543042

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

045094-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R6987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83363912-83397569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83375521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 31 (T31K)

Ref Sequence

ENSEMBL: ENSMUSP00000021018 (fasta)

Gene Model

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

AlphaFold

Q8BQ46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021018
AA Change: T31K

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: T31K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.9%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,629,978 (GRCm39)	I137V	probably benign	Het
Agtr1b	A	C	3: 20,370,585 (GRCm39)	I7S	probably benign	Het
Akt2	G	T	7: 27,332,666 (GRCm39)	V215L	probably damaging	Het
Ccdc148	C	A	2: 58,872,926 (GRCm39)	L294F	probably damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Cldnd1	A	G	16: 58,551,734 (GRCm39)	D121G	probably benign	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2c40	A	G	19: 39,801,211 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,881,065 (GRCm39)	I601V	possibly damaging	Het
Dnhd1	C	A	7: 105,353,792 (GRCm39)	H2982N	probably damaging	Het
Elavl4	A	T	4: 110,108,602 (GRCm39)	D55E	possibly damaging	Het
Enc1	T	C	13: 97,382,144 (GRCm39)	I218T	probably benign	Het
Fbln2	T	A	6: 91,211,211 (GRCm39)	V385D	probably benign	Het
Ffar2	A	G	7: 30,519,108 (GRCm39)	V144A	possibly damaging	Het
Fsip2	C	T	2: 82,778,630 (GRCm39)	Q159*	probably null	Het
Golga4	A	G	9: 118,387,600 (GRCm39)	H1574R	probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Lama4	A	G	10: 38,950,275 (GRCm39)	N985D	probably benign	Het
Lrp1	T	C	10: 127,410,874 (GRCm39)	N1438S	probably damaging	Het
Masp1	C	A	16: 23,332,665 (GRCm39)	V57F	probably damaging	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Nos1	C	T	5: 118,033,850 (GRCm39)	T324M	probably benign	Het
Npas3	A	G	12: 54,115,036 (GRCm39)	K635E	possibly damaging	Het
Or5p4	C	A	7: 107,680,338 (GRCm39)	C112*	probably null	Het
Or8b12i	A	T	9: 20,082,130 (GRCm39)	S246T	probably benign	Het
Osbp2	T	C	11: 3,667,958 (GRCm39)	E13G	probably damaging	Het
Pira12	A	G	7: 3,900,660 (GRCm39)	I30T	probably damaging	Het
Pkd1l1	A	G	11: 8,852,575 (GRCm39)	M636T	probably benign	Het
Pla2g4e	C	T	2: 120,016,861 (GRCm39)	A227T	probably benign	Het
Prex2	C	A	1: 11,240,976 (GRCm39)	A1028E	probably damaging	Het
Prr14	A	G	7: 127,072,977 (GRCm39)	D49G	possibly damaging	Het
Slc9a9	A	G	9: 94,552,043 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,660,021 (GRCm39)	C960R	probably benign	Het
Tdrd9	C	A	12: 111,992,027 (GRCm39)	Q601K	possibly damaging	Het
Tes	C	A	6: 17,086,154 (GRCm39)	Q16K	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem168	T	A	6: 13,591,476 (GRCm39)	M63L	possibly damaging	Het
Trav14-1	C	T	14: 53,791,916 (GRCm39)	R89*	probably null	Het
Trp53bp2	A	T	1: 182,274,200 (GRCm39)	Y615F	probably damaging	Het
Ttc27	T	C	17: 75,084,736 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,874,068 (GRCm39)	V548E	probably damaging	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vmn1r69	A	G	7: 10,314,491 (GRCm39)	M1T	probably null	Het
Zfp729a	T	A	13: 67,768,058 (GRCm39)	K724*	probably null	Het
Zfp850	A	T	7: 27,689,426 (GRCm39)	C261S	probably damaging	Het
Zfp882	T	A	8: 72,668,517 (GRCm39)	V448E	probably benign	Het
Zzef1	A	G	11: 72,746,340 (GRCm39)	M881V	possibly 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
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
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'- CCACCATAGTTTTGTCCATACG -3'

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

Posted On

2018-11-28