Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Taf1a'

345149

Institutional Source

Beutler Lab

Gene Symbol

Taf1a

Ensembl Gene

ENSMUSG00000072258

Gene Name

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

Synonyms

mTAFI48

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

183170325-183191020 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 183181752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097043] [ENSMUST00000192076]

AlphaFold

P97357

Predicted Effect

probably benign
Transcript: ENSMUST00000097043

SMART Domains

Protein: ENSMUSP00000094808
Gene: ENSMUSG00000072258

Domain	Start	End	E-Value	Type
Pfam:TAF1_subA	9	291	1.6e-72	PFAM
Pfam:TAF1_subA	321	446	3e-44	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000192076
AA Change: V142E

SMART Domains

Protein: ENSMUSP00000142213
Gene: ENSMUSG00000072258
AA Change: V142E

Domain	Start	End	E-Value	Type
Pfam:TAF1_subA	9	296	8.4e-70	PFAM
Pfam:TAF1_subA	328	360	1.3e-6	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	probably damaging	Het

Other mutations in Taf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1257:Taf1a	UTSW	1	183,179,175 (GRCm39)	missense	possibly damaging	0.71
R2484:Taf1a	UTSW	1	183,177,422 (GRCm39)	splice site	probably benign
R2878:Taf1a	UTSW	1	183,179,173 (GRCm39)	missense	probably damaging	0.97
R3883:Taf1a	UTSW	1	183,172,288 (GRCm39)	missense	possibly damaging	0.53
R5029:Taf1a	UTSW	1	183,177,273 (GRCm39)	missense	possibly damaging	0.70
R5517:Taf1a	UTSW	1	183,177,323 (GRCm39)	missense	probably damaging	1.00
R5799:Taf1a	UTSW	1	183,177,272 (GRCm39)	missense	possibly damaging	0.85
R7392:Taf1a	UTSW	1	183,190,095 (GRCm39)	missense
R7635:Taf1a	UTSW	1	183,189,253 (GRCm39)	critical splice donor site	probably null
R7707:Taf1a	UTSW	1	183,185,583 (GRCm39)	missense	possibly damaging	0.93
R9233:Taf1a	UTSW	1	183,181,878 (GRCm39)	missense	possibly damaging	0.52
RF056:Taf1a	UTSW	1	183,172,369 (GRCm39)	critical splice donor site	probably benign
Z1088:Taf1a	UTSW	1	183,185,614 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTATTGGTTGTTTCACATGCC -3'
(R):5'- AGTGTAGTACTGCAGAAGCCC -3'

Sequencing Primer
(F):5'- AACTTGCTTTGTAGACCAGGC -3'
(R):5'- TGCAGAAGCCCTTTGTAAGC -3'

Posted On

2015-09-25