Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02642:Taf1c'

301777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf1c

Ensembl Gene

ENSMUSG00000031832

Gene Name

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

Synonyms

mTAFI95

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

120324713-120331945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120325796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 689 (T689A)

Ref Sequence

ENSEMBL: ENSMUSP00000090789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]

AlphaFold

Q6PDZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000093099
AA Change: T689A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: T689A

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,644,720 (GRCm39)	D68G	probably damaging	Het
Amer3	A	G	1: 34,625,761 (GRCm39)		probably benign	Het
Ankrd11	A	G	8: 123,617,390 (GRCm39)	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,368,673 (GRCm39)	H175Q	probably damaging	Het
Brd8	C	A	18: 34,741,117 (GRCm39)		probably benign	Het
C1rl	C	A	6: 124,470,806 (GRCm39)	T38N	possibly damaging	Het
Cd160	T	C	3: 96,707,927 (GRCm39)	T140A	probably benign	Het
Cdk16	T	G	X: 20,563,167 (GRCm39)	D381E	probably benign	Het
Cpq	G	A	15: 33,381,546 (GRCm39)	G303D	probably damaging	Het
Dmp1	T	C	5: 104,359,536 (GRCm39)	S71P	probably damaging	Het
Enc1	A	C	13: 97,382,042 (GRCm39)	D184A	possibly damaging	Het
Enkur	T	C	2: 21,199,198 (GRCm39)	D112G	probably benign	Het
Esrra	A	T	19: 6,890,218 (GRCm39)	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,058 (GRCm39)	N47S	probably benign	Het
Fads1	T	A	19: 10,163,785 (GRCm39)	V189D	probably damaging	Het
Fam167a	T	A	14: 63,689,721 (GRCm39)	I6N	probably damaging	Het
Fam98b	A	G	2: 117,090,793 (GRCm39)	T164A	probably benign	Het
Fhip2a	A	G	19: 57,373,782 (GRCm39)	N681D	possibly damaging	Het
Fryl	T	A	5: 73,252,809 (GRCm39)	I953L	probably benign	Het
Gm10610	T	A	7: 83,198,813 (GRCm39)		noncoding transcript	Het
Grik5	G	T	7: 24,758,408 (GRCm39)	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,668,652 (GRCm39)	I72T	probably benign	Het
Gusb	T	C	5: 130,029,376 (GRCm39)		probably null	Het
Hccs	A	G	X: 168,098,588 (GRCm39)		probably benign	Het
Hoxb4	A	G	11: 96,211,050 (GRCm39)	K217E	probably damaging	Het
Hpd	C	T	5: 123,319,503 (GRCm39)	V22I	possibly damaging	Het
Ighv1-47	A	G	12: 114,954,844 (GRCm39)	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,133 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,119,361 (GRCm39)	M2613L	probably benign	Het
Lama2	G	A	10: 27,343,269 (GRCm39)	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrfn1	T	C	7: 28,158,113 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,057,322 (GRCm39)		probably null	Het
Mri1	A	T	8: 84,983,702 (GRCm39)	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,438,522 (GRCm39)		probably null	Het
Mtif2	C	A	11: 29,494,395 (GRCm39)	Q666K	probably benign	Het
Mtr	A	T	13: 12,210,118 (GRCm39)		probably benign	Het
Mug1	A	G	6: 121,859,544 (GRCm39)	N1181S	probably benign	Het
Myom1	A	T	17: 71,408,093 (GRCm39)	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,284,138 (GRCm39)	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,014,358 (GRCm39)	K297N	probably benign	Het
Obox5	T	C	7: 15,491,972 (GRCm39)	V129A	probably benign	Het
Pex16	C	T	2: 92,206,981 (GRCm39)	A53V	probably damaging	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Pip5k1b	G	T	19: 24,323,731 (GRCm39)	H406N	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plcxd3	T	C	15: 4,546,122 (GRCm39)	F42S	possibly damaging	Het
Pnpla7	T	C	2: 24,940,288 (GRCm39)	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,590,872 (GRCm39)		probably benign	Het
Rdh11	G	A	12: 79,232,110 (GRCm39)		probably benign	Het
Serac1	A	G	17: 6,096,021 (GRCm39)	F576S	possibly damaging	Het
Slc45a4	A	T	15: 73,458,664 (GRCm39)	M295K	probably benign	Het
Timm10b	G	T	7: 105,317,645 (GRCm39)		probably benign	Het
Tle5	A	T	10: 81,397,126 (GRCm39)	Q34L	possibly damaging	Het
Tnc	A	T	4: 63,883,816 (GRCm39)		probably benign	Het
Toporsl	T	C	4: 52,611,114 (GRCm39)	W336R	probably benign	Het
Usp54	C	A	14: 20,615,140 (GRCm39)		probably benign	Het
Vmn1r233	T	C	17: 21,214,291 (GRCm39)	R220G	probably damaging	Het

Other mutations in Taf1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Taf1c	APN	8	120,328,067 (GRCm39)	missense	possibly damaging	0.80
IGL01098:Taf1c	APN	8	120,329,580 (GRCm39)	missense	probably damaging	0.98
IGL01287:Taf1c	APN	8	120,327,931 (GRCm39)	missense	probably benign	0.01
IGL02339:Taf1c	APN	8	120,331,019 (GRCm39)	missense	probably damaging	1.00
IGL02954:Taf1c	APN	8	120,327,225 (GRCm39)	missense	probably damaging	1.00
R0026:Taf1c	UTSW	8	120,330,975 (GRCm39)	splice site	probably null
R0031:Taf1c	UTSW	8	120,325,829 (GRCm39)	missense	probably benign	0.00
R0087:Taf1c	UTSW	8	120,327,726 (GRCm39)	missense	probably damaging	1.00
R0197:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R0701:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R0883:Taf1c	UTSW	8	120,326,722 (GRCm39)	missense	probably damaging	0.98
R2200:Taf1c	UTSW	8	120,325,417 (GRCm39)	missense	probably benign
R3726:Taf1c	UTSW	8	120,329,809 (GRCm39)	missense	probably damaging	1.00
R3765:Taf1c	UTSW	8	120,327,224 (GRCm39)	nonsense	probably null
R3916:Taf1c	UTSW	8	120,327,244 (GRCm39)	missense	probably damaging	1.00
R4368:Taf1c	UTSW	8	120,326,055 (GRCm39)	missense	possibly damaging	0.60
R4470:Taf1c	UTSW	8	120,326,361 (GRCm39)	missense	probably benign
R4501:Taf1c	UTSW	8	120,326,168 (GRCm39)	missense	probably damaging	1.00
R4661:Taf1c	UTSW	8	120,325,589 (GRCm39)	missense	probably damaging	0.99
R4741:Taf1c	UTSW	8	120,330,134 (GRCm39)	unclassified	probably benign
R4938:Taf1c	UTSW	8	120,325,537 (GRCm39)	missense	probably benign	0.26
R5481:Taf1c	UTSW	8	120,325,979 (GRCm39)	missense	probably damaging	1.00
R6335:Taf1c	UTSW	8	120,328,518 (GRCm39)	missense	probably damaging	1.00
R6517:Taf1c	UTSW	8	120,330,986 (GRCm39)	missense	possibly damaging	0.59
R7083:Taf1c	UTSW	8	120,327,407 (GRCm39)	missense	probably damaging	1.00
R7351:Taf1c	UTSW	8	120,325,739 (GRCm39)	missense	probably damaging	0.97
R8056:Taf1c	UTSW	8	120,330,202 (GRCm39)	missense	probably benign	0.13
R8170:Taf1c	UTSW	8	120,329,565 (GRCm39)	splice site	probably null
R8279:Taf1c	UTSW	8	120,325,750 (GRCm39)	missense	probably benign
R8382:Taf1c	UTSW	8	120,329,789 (GRCm39)	missense	probably damaging	1.00
R8492:Taf1c	UTSW	8	120,325,456 (GRCm39)	missense	probably benign	0.13
R9375:Taf1c	UTSW	8	120,325,393 (GRCm39)	missense	probably damaging	0.99
Z1177:Taf1c	UTSW	8	120,325,566 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16