Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Taf1c'

434331

Institutional Source

Beutler Lab

Gene Symbol

Taf1c

Ensembl Gene

ENSMUSG00000031832

Gene Name

TATA-box binding protein associated factor, RNA polymerase I, C

Synonyms

mTAFI95

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R5481 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120324713-120331945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120325979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 628 (S628P)

Ref Sequence

ENSEMBL: ENSMUSP00000090789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]

AlphaFold

Q6PDZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093099
AA Change: S628P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: S628P

Domain	Start	End	E-Value	Type
low complexity region	60	79	N/A	INTRINSIC
SCOP:d1k32a3	253	389	2e-3	SMART
Blast:WD40	301	340	2e-15	BLAST
low complexity region	457	472	N/A	INTRINSIC
low complexity region	478	490	N/A	INTRINSIC
low complexity region	520	535	N/A	INTRINSIC
low complexity region	724	732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093100

SMART Domains

Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831

Domain	Start	End	E-Value	Type
Pfam:LRR_9	115	298	5.7e-10	PFAM
low complexity region	322	332	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144379

Predicted Effect

probably benign
Transcript: ENSMUST00000147964

SMART Domains

Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832

Domain	Start	End	E-Value	Type
low complexity region	60	79	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212929

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,759 (GRCm39)	S187P	probably damaging	Het
Aass	C	A	6: 23,113,475 (GRCm39)	V282L	probably benign	Het
Adh6a	G	T	3: 138,031,719 (GRCm39)	V204F	probably damaging	Het
Adrm1b	A	G	3: 92,336,658 (GRCm39)	S15P	possibly damaging	Het
Aspm	A	G	1: 139,384,799 (GRCm39)	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,610,846 (GRCm39)	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,805,352 (GRCm39)	Y114H	probably damaging	Het
BC106179	T	A	16: 23,042,918 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,570,900 (GRCm39)	L792P	probably benign	Het
Calcoco2	A	G	11: 95,998,369 (GRCm39)	V18A	probably damaging	Het
Chpf2	A	T	5: 24,794,340 (GRCm39)	H170L	probably damaging	Het
Chrna1	T	A	2: 73,397,270 (GRCm39)	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,402,792 (GRCm39)	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,271,660 (GRCm39)	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,466,246 (GRCm39)	T350P	probably damaging	Het
Dgkq	A	G	5: 108,796,676 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,030,828 (GRCm39)	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,408,349 (GRCm39)	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,357 (GRCm39)	D138G	probably benign	Het
Fen1	A	G	19: 10,178,022 (GRCm39)	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,216 (GRCm39)	G390D	probably damaging	Het
Fnip1	C	A	11: 54,393,470 (GRCm39)	D635E	probably benign	Het
Fry	A	T	5: 150,183,784 (GRCm39)	L17F	probably benign	Het
Fsip2	T	C	2: 82,810,230 (GRCm39)	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,027,951 (GRCm39)	I19N	probably damaging	Het
Hus1b	T	C	13: 31,130,942 (GRCm39)	D239G	probably benign	Het
Kif1a	T	C	1: 92,987,966 (GRCm39)	K546R	probably benign	Het
Kmt2d	A	G	15: 98,759,886 (GRCm39)	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,876,153 (GRCm39)	I417T	probably damaging	Het
Manba	A	T	3: 135,230,317 (GRCm39)	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,193,078 (GRCm39)	D140G	probably damaging	Het
Mlh1	T	C	9: 111,058,905 (GRCm39)		probably null	Het
Morc1	T	A	16: 48,381,848 (GRCm39)		probably null	Het
Morc3	C	A	16: 93,659,543 (GRCm39)	P449Q	probably damaging	Het
Mtr	T	C	13: 12,203,041 (GRCm39)		probably null	Het
Mylk	T	A	16: 34,741,974 (GRCm39)	C829S	probably benign	Het
Myo1d	A	G	11: 80,553,921 (GRCm39)	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nos1	A	T	5: 118,005,819 (GRCm39)	I180F	probably benign	Het
Ntsr1	C	T	2: 180,183,313 (GRCm39)	T341M	possibly damaging	Het
Or8b51	A	T	9: 38,568,916 (GRCm39)	F257L	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Peli2	C	A	14: 48,490,090 (GRCm39)	N136K	probably damaging	Het
Pigt	C	A	2: 164,348,342 (GRCm39)	P429H	probably damaging	Het
Pik3r2	T	C	8: 71,222,408 (GRCm39)	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,422,042 (GRCm39)	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,575,221 (GRCm39)	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,510,744 (GRCm39)	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,318,498 (GRCm39)	S355R	probably damaging	Het
Sema4a	A	T	3: 88,360,347 (GRCm39)	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,222,076 (GRCm39)	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,314,201 (GRCm39)	N495S	probably benign	Het
Srcap	G	A	7: 127,131,369 (GRCm39)	G836D	probably damaging	Het
Stard4	A	C	18: 33,338,298 (GRCm39)	C137W	probably benign	Het
Stat6	A	G	10: 127,483,695 (GRCm39)		probably null	Het
Steap3	T	C	1: 120,169,454 (GRCm39)	D243G	probably benign	Het
Unkl	C	T	17: 25,420,146 (GRCm39)	Q13*	probably null	Het
Usp38	A	G	8: 81,719,952 (GRCm39)	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,949,636 (GRCm39)	T404A	probably benign	Het
Washc1	T	C	17: 66,425,860 (GRCm39)	V425A	probably benign	Het
Zfyve9	A	G	4: 108,501,546 (GRCm39)	I590T	probably damaging	Het

Other mutations in Taf1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Taf1c	APN	8	120,328,067 (GRCm39)	missense	possibly damaging	0.80
IGL01098:Taf1c	APN	8	120,329,580 (GRCm39)	missense	probably damaging	0.98
IGL01287:Taf1c	APN	8	120,327,931 (GRCm39)	missense	probably benign	0.01
IGL02339:Taf1c	APN	8	120,331,019 (GRCm39)	missense	probably damaging	1.00
IGL02642:Taf1c	APN	8	120,325,796 (GRCm39)	missense	probably benign
IGL02954:Taf1c	APN	8	120,327,225 (GRCm39)	missense	probably damaging	1.00
R0026:Taf1c	UTSW	8	120,330,975 (GRCm39)	splice site	probably null
R0031:Taf1c	UTSW	8	120,325,829 (GRCm39)	missense	probably benign	0.00
R0087:Taf1c	UTSW	8	120,327,726 (GRCm39)	missense	probably damaging	1.00
R0197:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R0701:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R0883:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R2200:Taf1c	UTSW	8	120,325,417 (GRCm39)	missense	probably benign
R3726:Taf1c	UTSW	8	120,329,809 (GRCm39)	missense	probably damaging	1.00
R3765:Taf1c	UTSW	8	120,327,224 (GRCm39)	nonsense	probably null
R3916:Taf1c	UTSW	8	120,327,244 (GRCm39)	missense	probably damaging	1.00
R4368:Taf1c	UTSW	8	120,326,055 (GRCm39)	missense	possibly damaging	0.60
R4470:Taf1c	UTSW	8	120,326,361 (GRCm39)	missense	probably benign
R4501:Taf1c	UTSW	8	120,326,168 (GRCm39)	missense	probably damaging	1.00
R4661:Taf1c	UTSW	8	120,325,589 (GRCm39)	missense	probably damaging	0.99
R4741:Taf1c	UTSW	8	120,330,134 (GRCm39)	unclassified	probably benign
R4938:Taf1c	UTSW	8	120,325,537 (GRCm39)	missense	probably benign	0.26
R6335:Taf1c	UTSW	8	120,328,518 (GRCm39)	missense	probably damaging	1.00
R6517:Taf1c	UTSW	8	120,330,986 (GRCm39)	missense	possibly damaging	0.59
R7083:Taf1c	UTSW	8	120,327,407 (GRCm39)	missense	probably damaging	1.00
R7351:Taf1c	UTSW	8	120,325,739 (GRCm39)	missense	probably damaging	0.97
R8056:Taf1c	UTSW	8	120,330,202 (GRCm39)	missense	probably benign	0.13
R8170:Taf1c	UTSW	8	120,329,565 (GRCm39)	splice site	probably null
R8279:Taf1c	UTSW	8	120,325,750 (GRCm39)	missense	probably benign
R8382:Taf1c	UTSW	8	120,329,789 (GRCm39)	missense	probably damaging	1.00
R8492:Taf1c	UTSW	8	120,325,456 (GRCm39)	missense	probably benign	0.13
R9375:Taf1c	UTSW	8	120,325,393 (GRCm39)	missense	probably damaging	0.99
Z1177:Taf1c	UTSW	8	120,325,566 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTGCTAGACAACTGAGTCC -3'
(R):5'- GGGATGTCTTCTACCAGCAC -3'

Sequencing Primer
(F):5'- CTTCTGTCAAGCGCTCAGTGAG -3'
(R):5'- GGATGTCTTCTACCAGCACCTACG -3'

Posted On

2016-10-06