Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Taf1b'

344337

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

041811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24548580-24608570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24550441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 9 (F9I)

Ref Sequence

ENSEMBL: ENSMUSP00000152862 (fasta)

Gene Model

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

AlphaFold

P97358

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075954
AA Change: F9I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: F9I

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: F9I

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222710
AA Change: F9I

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223503

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm39)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Drd2	T	A	9: 49,316,089 (GRCm39)	M283K	probably benign	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Glul	G	A	1: 153,778,796 (GRCm39)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or4f14b	T	C	2: 111,774,997 (GRCm39)	D268G	possibly damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,743,380 (GRCm39)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	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
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
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'- CATGCTACTAAAGAGACGAGACTC -3'
(R):5'- TAGGAGTCAGGCCACATACC -3'

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

Posted On

2015-09-25