Mutagenetix > Incidental Mutation

Incidental Mutation 'R3441:Gtf3c6'

267389

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c6

Ensembl Gene

ENSMUSG00000019837

Gene Name

general transcription factor IIIC, polypeptide 6, alpha

Synonyms

2410016F19Rik

MMRRC Submission

040659-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40123697-40133708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40127169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 123 (E123V)

Ref Sequence

ENSEMBL: ENSMUSP00000151091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217141] [ENSMUST00000217537]

AlphaFold

Q9D8P7

Predicted Effect

probably null
Transcript: ENSMUST00000019982
AA Change: E124V

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

SMART Domains

Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837
AA Change: E124V

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
Pfam:TFIIIC_sub6	51	84	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045114

SMART Domains

Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	1	195	3.25e-51	SMART
low complexity region	208	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181995

SMART Domains

Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	202	8.11e-29	SMART
low complexity region	215	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183052

SMART Domains

Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	175	6.08e-10	SMART
low complexity region	188	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183114

SMART Domains

Protein: ENSMUSP00000138750
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	3	149	1.26e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183309

SMART Domains

Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510

Domain	Start	End	E-Value	Type
Brix	34	228	3.25e-51	SMART
low complexity region	241	252	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000213628
AA Change: E61V

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

Predicted Effect

probably null
Transcript: ENSMUST00000216847
AA Change: E61V

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

Predicted Effect

probably null
Transcript: ENSMUST00000217141
AA Change: E61V

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

Predicted Effect

probably null
Transcript: ENSMUST00000217537
AA Change: E123V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217457

Meta Mutation Damage Score

0.3792

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Ap5b1	A	G	19: 5,620,011 (GRCm39)	H477R	probably benign	Het
Asz1	A	C	6: 18,108,405 (GRCm39)	S68A	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Btnl6	T	C	17: 34,727,292 (GRCm39)	K413E	probably benign	Het
Cav3	G	A	6: 112,449,402 (GRCm39)	C140Y	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap91	T	C	16: 38,154,168 (GRCm39)	M126V	probably benign	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Cyba	C	T	8: 123,151,803 (GRCm39)	W103*	probably null	Het
Epha4	G	T	1: 77,403,333 (GRCm39)	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,817,071 (GRCm39)	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,592 (GRCm39)	A175V	probably benign	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Krtap24-1	T	C	16: 88,408,713 (GRCm39)	T138A	probably damaging	Het
Mrc2	A	T	11: 105,238,542 (GRCm39)	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,257,431 (GRCm39)	I109F	probably damaging	Het
Nav3	A	G	10: 109,540,789 (GRCm39)	F1947S	probably benign	Het
Or12e1	A	G	2: 87,022,162 (GRCm39)	I44V	probably benign	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Plxnc1	G	A	10: 94,706,872 (GRCm39)	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,151,214 (GRCm39)		probably benign	Het
Rag2	T	A	2: 101,460,645 (GRCm39)	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,438,025 (GRCm39)	F27L	probably damaging	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Teddm1b	A	G	1: 153,751,007 (GRCm39)	E272G	probably benign	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504 (GRCm39)	Y103N	probably benign	Het
Tmem98	A	G	11: 80,705,125 (GRCm39)	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,684,308 (GRCm39)	I258V	probably benign	Het

Other mutations in Gtf3c6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Gtf3c6	APN	10	40,130,470 (GRCm39)	splice site	probably benign
IGL03063:Gtf3c6	APN	10	40,127,155 (GRCm39)	missense	probably benign	0.41
IGL03178:Gtf3c6	APN	10	40,125,718 (GRCm39)	missense	probably benign	0.01
Drumpf	UTSW	10	40,127,169 (GRCm39)	missense	probably null	1.00
R2850:Gtf3c6	UTSW	10	40,130,254 (GRCm39)	splice site	probably benign
R3440:Gtf3c6	UTSW	10	40,127,169 (GRCm39)	missense	probably null	1.00
R3442:Gtf3c6	UTSW	10	40,127,169 (GRCm39)	missense	probably null	1.00
R3842:Gtf3c6	UTSW	10	40,130,317 (GRCm39)	splice site	probably null
R6529:Gtf3c6	UTSW	10	40,127,251 (GRCm39)	missense	probably benign	0.00
R6856:Gtf3c6	UTSW	10	40,125,668 (GRCm39)	missense	probably benign	0.00
R6996:Gtf3c6	UTSW	10	40,125,774 (GRCm39)	missense	probably benign	0.45
R8139:Gtf3c6	UTSW	10	40,133,469 (GRCm39)	splice site	probably null
R9398:Gtf3c6	UTSW	10	40,133,520 (GRCm39)	intron	probably benign
X0017:Gtf3c6	UTSW	10	40,127,273 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGCTCATGTCAATGTGTC -3'
(R):5'- GGGAACTTCCTGTGCTGTTC -3'

Sequencing Primer
(F):5'- AATGTGTCATAGCTCACTCTGG -3'
(R):5'- TCCCATAGGAAGTAGTTGAGACTAAC -3'

Posted On

2015-02-18