Mutagenetix > Incidental Mutation

Incidental Mutation 'R3440:Gtf3c6'

267354

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c6

Ensembl Gene

ENSMUSG00000019837

Gene Name

general transcription factor IIIC, polypeptide 6, alpha

Synonyms

2410016F19Rik

MMRRC Submission

040658-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R3440 (G1)

Quality Score

211

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: 97.3%
20x: 95.2%

Validation Efficiency

97% (29/30)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	C	A	2: 103,397,577 (GRCm39)	A169E	probably benign	Het
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Agmo	C	T	12: 37,293,799 (GRCm39)	T74I	probably damaging	Het
Ano6	T	C	15: 95,865,602 (GRCm39)	V862A	probably damaging	Het
Bltp1	C	T	3: 37,096,061 (GRCm39)	Q4614*	probably null	Het
Cavin2	T	A	1: 51,340,565 (GRCm39)	V414E	probably damaging	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
Dhrs3	T	A	4: 144,646,628 (GRCm39)	M226K	probably damaging	Het
Fignl2	A	G	15: 100,951,004 (GRCm39)	F426S	unknown	Het
Fpr1	C	T	17: 18,097,420 (GRCm39)	D190N	probably benign	Het
Grik3	C	A	4: 125,587,763 (GRCm39)	L628M	probably damaging	Het
Grik3	T	A	4: 125,587,764 (GRCm39)	L628Q	probably damaging	Het
Grin2c	T	A	11: 115,141,469 (GRCm39)	D883V	probably damaging	Het
H2-Eb1	A	G	17: 34,528,655 (GRCm39)	E62G	probably damaging	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Lef1	A	G	3: 130,978,407 (GRCm39)	D175G	probably damaging	Het
Myom1	A	G	17: 71,352,658 (GRCm39)		probably null	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Pgr	A	T	9: 8,922,630 (GRCm39)	N600I	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Selp	T	C	1: 163,951,344 (GRCm39)	F26S	probably benign	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Zfat	A	T	15: 67,956,402 (GRCm39)	D1143E	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
R3441: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'- CGTGGTGCTCATGTCAATG -3'
(R):5'- GGAACTTCCTGTGCTGTTCC -3'

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

Posted On

2015-02-18