Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Taf10'

422333

Institutional Source

Beutler Lab

Gene Symbol

Taf10

Ensembl Gene

ENSMUSG00000043866

Gene Name

TATA-box binding protein associated factor 10

Synonyms

Taf2h, TAFII30, 30kDa

MMRRC Submission

042920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105392101-105393550 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 105390139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000098148] [ENSMUST00000149695] [ENSMUST00000163389] [ENSMUST00000141116] [ENSMUST00000136687]

AlphaFold

Q8K0H5

Predicted Effect

probably benign
Transcript: ENSMUST00000033179

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888

Domain	Start	End	E-Value	Type
low complexity region	186	202	N/A	INTRINSIC
Pfam:Methyltransf_8	238	457	2.4e-107	PFAM
Pfam:Methyltransf_11	314	391	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033182

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase	193	445	1.5e-25	PFAM
Pfam:Pkinase_Tyr	193	446	7.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033184

SMART Domains

Protein: ENSMUSP00000033184
Gene: ENSMUSG00000030894

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pro-kuma_activ	32	176	4.53e-50	SMART
low complexity region	177	189	N/A	INTRINSIC
Pfam:Peptidase_S8	251	492	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000054556

Predicted Effect

probably benign
Transcript: ENSMUST00000098148

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888

Domain	Start	End	E-Value	Type
low complexity region	232	248	N/A	INTRINSIC
Pfam:Methyltransf_8	284	503	7.5e-107	PFAM
Pfam:Methyltransf_11	348	437	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127298

Predicted Effect

probably benign
Transcript: ENSMUST00000130565

Predicted Effect

silent
Transcript: ENSMUST00000153557

Predicted Effect

silent
Transcript: ENSMUST00000149695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210840

Predicted Effect

probably benign
Transcript: ENSMUST00000163389

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase_Tyr	193	446	4e-39	PFAM
Pfam:Pkinase	195	445	3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141116

SMART Domains

Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	45	91	N/A	INTRINSIC
Pfam:TFIID_30kDa	128	177	6.1e-30	PFAM
low complexity region	181	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136687

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die shortly after implantation. Embryos are developmentally retarded and disorganized, the inner cell mass is small and trophoblasts stop endocycling. Ablation in keratinocytes during fetal development, but not in adult keratinocytes, results in impaired skin barrier function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Gulo	T	C	14: 66,225,707 (GRCm39)	D373G	probably benign	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Rbpj	A	G	5: 53,799,425 (GRCm39)	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Slc34a3	A	T	2: 25,120,671 (GRCm39)	F419I	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Stk11	A	T	10: 79,962,094 (GRCm39)	T83S	probably benign	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Uap1	C	A	1: 169,971,000 (GRCm39)	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	probably damaging	Het

Other mutations in Taf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1167:Taf10	UTSW	7	105,392,438 (GRCm39)	missense	probably benign	0.00
R4352:Taf10	UTSW	7	105,392,614 (GRCm39)	unclassified	probably benign
R6943:Taf10	UTSW	7	105,393,383 (GRCm39)	missense	probably benign	0.23
R7016:Taf10	UTSW	7	105,393,205 (GRCm39)	splice site	probably null
R7535:Taf10	UTSW	7	105,390,117 (GRCm39)	missense	probably benign	0.04
R8175:Taf10	UTSW	7	105,393,134 (GRCm39)	missense	probably damaging	1.00
R8946:Taf10	UTSW	7	105,393,524 (GRCm39)	start codon destroyed	probably null
R9483:Taf10	UTSW	7	105,393,062 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTTCAGGACCTGGTGGCTAAC -3'
(R):5'- GTTCAGGGTCCCATTTCCTG -3'

Sequencing Primer
(F):5'- CTAACGGGGCTCTTGTGAG -3'
(R):5'- GGGTCCCATTTCCTGAAAATATGAGC -3'

Posted On

2016-08-04