Mutagenetix > Incidental Mutation

Incidental Mutation 'R5838:Taf1b'

449751

Institutional Source

Beutler Lab

Gene Symbol

Taf1b

Ensembl Gene

ENSMUSG00000059669

Gene Name

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

Synonyms

4930408G01Rik, p63, A230108M10Rik, mTAFI68

MMRRC Submission

044058-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24548580-24608570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24550448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 11 (D11G)

Ref Sequence

ENSEMBL: ENSMUSP00000075339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372] [ENSMUST00000222710]

AlphaFold

P97358

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075954
AA Change: D11G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: D11G

Domain	Start	End	E-Value	Type
Pfam:RRN7	3	39	7.3e-15	PFAM
low complexity region	141	153	N/A	INTRINSIC
low complexity region	361	374	N/A	INTRINSIC
low complexity region	411	425	N/A	INTRINSIC
low complexity region	574	583	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221372
AA Change: D11G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222710
AA Change: D11G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223503

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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 one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,863,706 (GRCm39)	V385I	probably benign	Het
Apmap	T	C	2: 150,427,777 (GRCm39)	Y315C	probably damaging	Het
Arhgef12	G	A	9: 42,916,904 (GRCm39)	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,586,397 (GRCm39)	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,875,669 (GRCm39)	D183G	probably benign	Het
Clk1	C	A	1: 58,451,819 (GRCm39)	C432F	probably damaging	Het
Col27a1	G	T	4: 63,143,765 (GRCm39)	L484F	probably damaging	Het
Col7a1	A	G	9: 108,807,211 (GRCm39)	E2480G	unknown	Het
Dnah5	A	G	15: 28,290,341 (GRCm39)	I1244V	probably benign	Het
Dock3	G	T	9: 106,772,687 (GRCm39)	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,523,857 (GRCm39)		probably null	Het
Epas1	C	T	17: 87,131,114 (GRCm39)	T298I	possibly damaging	Het
Epha1	A	T	6: 42,338,580 (GRCm39)	I699N	probably damaging	Het
Ephb3	T	C	16: 21,040,437 (GRCm39)	S558P	probably damaging	Het
Epn1	T	A	7: 5,100,165 (GRCm39)	L426*	probably null	Het
Fam234b	T	C	6: 135,202,265 (GRCm39)	V329A	probably benign	Het
Fasn	G	T	11: 120,706,950 (GRCm39)	R901S	probably damaging	Het
Fbln2	T	C	6: 91,248,830 (GRCm39)	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 155,893,913 (GRCm39)	R103G	probably benign	Het
G6pd2	T	A	5: 61,966,568 (GRCm39)	D114E	probably benign	Het
Galnt10	A	G	11: 57,671,882 (GRCm39)	K391E	probably damaging	Het
Gpr150	C	A	13: 76,204,045 (GRCm39)	C300F	probably benign	Het
Hhipl2	A	G	1: 183,204,479 (GRCm39)	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,347,819 (GRCm39)	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,559,953 (GRCm39)	Q173L	unknown	Het
Inca1	T	C	11: 70,580,707 (GRCm39)	E86G	probably damaging	Het
Iqca1	A	G	1: 90,072,667 (GRCm39)	L71P	probably benign	Het
Kank2	G	T	9: 21,706,689 (GRCm39)	Q110K	probably damaging	Het
Katnip	A	T	7: 125,466,827 (GRCm39)	M1361L	possibly damaging	Het
Kif13b	A	T	14: 64,975,004 (GRCm39)	M407L	probably damaging	Het
Kif5a	A	C	10: 127,081,310 (GRCm39)	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,489,469 (GRCm39)	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,835,875 (GRCm39)	R1352H	probably benign	Het
Macf1	T	C	4: 123,345,947 (GRCm39)	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,012,163 (GRCm39)	S291P	probably benign	Het
Mccc1	A	G	3: 36,039,231 (GRCm39)	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547 (GRCm39)	R4683W	probably damaging	Het
Mon2	A	G	10: 122,846,397 (GRCm39)		probably null	Het
Ndrg4	A	T	8: 96,433,421 (GRCm39)	H134L	probably damaging	Het
Nek7	C	A	1: 138,462,101 (GRCm39)		probably null	Het
Nlrc3	C	T	16: 3,771,859 (GRCm39)	S151N	probably damaging	Het
Nsl1	C	A	1: 190,802,310 (GRCm39)	A146E	probably benign	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or2y1e	A	C	11: 49,218,760 (GRCm39)	N174T	probably damaging	Het
Or52ac1	A	G	7: 104,246,104 (GRCm39)	Y95H	probably benign	Het
Or5b120	T	A	19: 13,479,922 (GRCm39)	Y72N	probably damaging	Het
Or6c210	A	T	10: 129,495,907 (GRCm39)	R77S	probably benign	Het
Pde4d	A	C	13: 109,876,976 (GRCm39)	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,274,862 (GRCm39)	L875*	probably null	Het
Pkd1	T	A	17: 24,799,186 (GRCm39)	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,510,454 (GRCm39)	T500A	probably benign	Het
Ppp2r2c	T	C	5: 37,097,531 (GRCm39)	V239A	probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Reln	T	A	5: 22,104,111 (GRCm39)	I3287F	probably damaging	Het
Scube2	T	C	7: 109,407,651 (GRCm39)	D763G	probably damaging	Het
Setd5	T	C	6: 113,096,396 (GRCm39)	V534A	probably benign	Het
Slc10a4	T	A	5: 73,169,373 (GRCm39)	C333S	probably benign	Het
Slc15a1	G	A	14: 121,722,283 (GRCm39)	A206V	probably damaging	Het
Snx14	A	G	9: 88,273,829 (GRCm39)	L654P	probably damaging	Het
Sowahc	G	A	10: 59,059,012 (GRCm39)	A383T	possibly damaging	Het
Tap1	C	T	17: 34,412,279 (GRCm39)	Q164*	probably null	Het
Tbcel	T	A	9: 42,327,168 (GRCm39)	R430W	probably damaging	Het
Trappc11	A	T	8: 47,965,594 (GRCm39)		probably null	Het
Trim15	T	C	17: 37,173,732 (GRCm39)	I259V	probably damaging	Het
Trpt1	T	C	19: 6,975,668 (GRCm39)	S141P	probably damaging	Het
Tsc2	T	A	17: 24,832,190 (GRCm39)	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,955,451 (GRCm39)	K914R	possibly damaging	Het
Unk	A	G	11: 115,940,157 (GRCm39)	E170G	probably damaging	Het
Uqcc2	T	A	17: 27,344,860 (GRCm39)	K62*	probably null	Het
Vim	A	G	2: 13,585,001 (GRCm39)	D394G	probably damaging	Het
Wdr47	G	A	3: 108,532,052 (GRCm39)		probably null	Het

Other mutations in Taf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Taf1b	APN	12	24,597,066 (GRCm39)	missense	possibly damaging	0.86
IGL01460:Taf1b	APN	12	24,608,245 (GRCm39)	missense	possibly damaging	0.96
IGL02100:Taf1b	APN	12	24,594,394 (GRCm39)	missense	possibly damaging	0.96
IGL02305:Taf1b	APN	12	24,594,270 (GRCm39)	missense	possibly damaging	0.73
IGL02729:Taf1b	APN	12	24,597,624 (GRCm39)	splice site	probably benign
PIT4283001:Taf1b	UTSW	12	24,597,594 (GRCm39)	missense	possibly damaging	0.86
PIT4519001:Taf1b	UTSW	12	24,597,118 (GRCm39)	nonsense	probably null
R0350:Taf1b	UTSW	12	24,564,884 (GRCm39)	missense	possibly damaging	0.85
R0853:Taf1b	UTSW	12	24,564,827 (GRCm39)	missense	probably benign	0.06
R1023:Taf1b	UTSW	12	24,559,558 (GRCm39)	utr 3 prime	probably benign
R1604:Taf1b	UTSW	12	24,606,623 (GRCm39)	missense	probably benign
R1702:Taf1b	UTSW	12	24,559,125 (GRCm39)	missense	possibly damaging	0.73
R1743:Taf1b	UTSW	12	24,597,177 (GRCm39)	missense	possibly damaging	0.85
R1817:Taf1b	UTSW	12	24,597,121 (GRCm39)	missense	possibly damaging	0.70
R1873:Taf1b	UTSW	12	24,606,668 (GRCm39)	missense	possibly damaging	0.96
R4595:Taf1b	UTSW	12	24,550,441 (GRCm39)	missense	possibly damaging	0.85
R5280:Taf1b	UTSW	12	24,599,437 (GRCm39)	missense	probably benign	0.18
R5849:Taf1b	UTSW	12	24,550,524 (GRCm39)	missense	probably damaging	1.00
R6368:Taf1b	UTSW	12	24,608,256 (GRCm39)	missense	possibly damaging	0.53
R6529:Taf1b	UTSW	12	24,606,650 (GRCm39)	missense	possibly damaging	0.53
R6589:Taf1b	UTSW	12	24,606,527 (GRCm39)	missense	possibly damaging	0.72
R6879:Taf1b	UTSW	12	24,550,516 (GRCm39)	missense	possibly damaging	0.71
R7342:Taf1b	UTSW	12	24,608,343 (GRCm39)	nonsense	probably null
R7449:Taf1b	UTSW	12	24,554,992 (GRCm39)	missense	probably benign	0.33
R8912:Taf1b	UTSW	12	24,566,860 (GRCm39)	missense	possibly damaging	0.73
R9239:Taf1b	UTSW	12	24,606,015 (GRCm39)	missense	probably damaging	1.00
R9337:Taf1b	UTSW	12	24,597,121 (GRCm39)	missense	possibly damaging	0.70
R9510:Taf1b	UTSW	12	24,566,947 (GRCm39)	missense	possibly damaging	0.85
R9780:Taf1b	UTSW	12	24,564,818 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGCTACTAAAGAGACGAGACTC -3'
(R):5'- CTGTTTAGGAGTCAGGCCAC -3'

Sequencing Primer
(F):5'- CTTCTGGTGCATCTGAAGACAGC -3'
(R):5'- TGTTTAGGAGTCAGGCCACATACC -3'

Posted On

2016-12-20