Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Taf1c'

309749

Institutional Source

Beutler Lab

Gene Symbol

Taf1c

Ensembl Gene

ENSMUSG00000031832

Gene Name

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

Synonyms

mTAFI95

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R3916 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

119597871-119605222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119600505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 412 (R412W)

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: R412W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: R412W

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Taf1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Taf1c	APN	8	119601328	missense	possibly damaging	0.80
IGL01098:Taf1c	APN	8	119602841	missense	probably damaging	0.98
IGL01287:Taf1c	APN	8	119601192	missense	probably benign	0.01
IGL02339:Taf1c	APN	8	119604280	missense	probably damaging	1.00
IGL02642:Taf1c	APN	8	119599057	missense	probably benign
IGL02954:Taf1c	APN	8	119600486	missense	probably damaging	1.00
R0026:Taf1c	UTSW	8	119604236	splice site	probably null
R0031:Taf1c	UTSW	8	119599090	missense	probably benign	0.00
R0087:Taf1c	UTSW	8	119600987	missense	probably damaging	1.00
R0197:Taf1c	UTSW	8	119599983	missense	probably damaging	0.98
R0701:Taf1c	UTSW	8	119599983	missense	probably damaging	0.98
R0883:Taf1c	UTSW	8	119599983	missense	probably damaging	0.98
R2200:Taf1c	UTSW	8	119598678	missense	probably benign
R3726:Taf1c	UTSW	8	119603070	missense	probably damaging	1.00
R3765:Taf1c	UTSW	8	119600485	nonsense	probably null
R4368:Taf1c	UTSW	8	119599316	missense	possibly damaging	0.60
R4470:Taf1c	UTSW	8	119599622	missense	probably benign
R4501:Taf1c	UTSW	8	119599429	missense	probably damaging	1.00
R4661:Taf1c	UTSW	8	119598850	missense	probably damaging	0.99
R4741:Taf1c	UTSW	8	119603395	unclassified	probably benign
R4938:Taf1c	UTSW	8	119598798	missense	probably benign	0.26
R5481:Taf1c	UTSW	8	119599240	missense	probably damaging	1.00
R6335:Taf1c	UTSW	8	119601779	missense	probably damaging	1.00
R6517:Taf1c	UTSW	8	119604247	missense	possibly damaging	0.59
R7083:Taf1c	UTSW	8	119600668	missense	probably damaging	1.00
R7351:Taf1c	UTSW	8	119599000	missense	probably damaging	0.97
R8056:Taf1c	UTSW	8	119603463	missense	probably benign	0.13
R8170:Taf1c	UTSW	8	119602826	splice site	probably null
R8279:Taf1c	UTSW	8	119599011	missense	probably benign
R8382:Taf1c	UTSW	8	119603050	missense	probably damaging	1.00
R8492:Taf1c	UTSW	8	119598717	missense	probably benign	0.13
R9375:Taf1c	UTSW	8	119598654	missense	probably damaging	0.99
Z1177:Taf1c	UTSW	8	119598827	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTAGGTTTGCAGATGACCCATTC -3'
(R):5'- ATGGTTGACATTCAGGTATCGG -3'

Sequencing Primer
(F):5'- TGCAGATGACCCATTCCACCTG -3'
(R):5'- ACATTCAGGTATCGGTTGAGAG -3'

Posted On

2015-04-17