Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Taf1b'

555131

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24548580-24608570 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24597118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 352 (Y352*)

Ref Sequence

ENSEMBL: ENSMUSP00000075339 (fasta)

Gene Model

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

AlphaFold

P97358

Predicted Effect

probably null
Transcript: ENSMUST00000075954
AA Change: Y352*

SMART Domains

Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: Y352*

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

probably benign
Transcript: ENSMUST00000221372

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably damaging	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
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
R5838:Taf1b	UTSW	12	24,550,448 (GRCm39)	missense	possibly damaging	0.92
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'- CTCCCAAAGTTCATGCATGAC -3'
(R):5'- TGGCTATAGCACAGCAGACC -3'

Sequencing Primer
(F):5'- CAATATGGGCTATATCGAGACCCTG -3'
(R):5'- AGACCCCACATCCTGCTGTG -3'

Posted On

2019-06-07