Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03063:Gtf3c6'

409540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf3c6

Ensembl Gene

ENSMUSG00000019837

Gene Name

general transcription factor IIIC, polypeptide 6, alpha

Synonyms

2410016F19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

IGL03063

Quality Score

Status

Chromosome

Chromosomal Location

40123697-40133708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40127155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 66 (I66L)

Ref Sequence

ENSEMBL: ENSMUSP00000148989 (fasta)

Gene Model

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

AlphaFold

Q9D8P7

Predicted Effect

probably benign
Transcript: ENSMUST00000019982
AA Change: I129L

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837
AA Change: I129L

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 benign
Transcript: ENSMUST00000213628
AA Change: I66L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217457

Predicted Effect

probably benign
Transcript: ENSMUST00000216847
AA Change: I66L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217537
AA Change: I128L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000217141
AA Change: I66L

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,665,856 (GRCm39)	V255I	probably benign	Het
Arfgef2	T	C	2: 166,701,702 (GRCm39)		probably benign	Het
Bpifb2	A	T	2: 153,731,044 (GRCm39)	Q205L	probably damaging	Het
Ccdc30	C	T	4: 119,206,964 (GRCm39)	R386Q	possibly damaging	Het
Cdk5rap2	T	A	4: 70,273,114 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,735 (GRCm39)		probably null	Het
Dao	T	C	5: 114,159,076 (GRCm39)	C261R	probably damaging	Het
Dner	A	G	1: 84,563,059 (GRCm39)	V187A	possibly damaging	Het
Dsg3	T	C	18: 20,666,425 (GRCm39)		probably benign	Het
Eif3j2	A	G	18: 43,610,444 (GRCm39)	L123P	possibly damaging	Het
Esf1	G	A	2: 139,996,706 (GRCm39)		probably benign	Het
Exo5	G	A	4: 120,778,830 (GRCm39)	T345I	possibly damaging	Het
Fancl	A	T	11: 26,337,299 (GRCm39)	I29F	probably damaging	Het
Gadl1	C	T	9: 115,795,335 (GRCm39)	H313Y	probably damaging	Het
Gm17190	G	A	13: 96,219,270 (GRCm39)		probably benign	Het
Gtf3c1	G	T	7: 125,245,675 (GRCm39)	T1580N	possibly damaging	Het
Hhla1	A	G	15: 65,813,639 (GRCm39)	I231T	probably damaging	Het
Hk2	A	G	6: 82,716,630 (GRCm39)	Y273H	probably damaging	Het
Hk2	A	G	6: 82,726,213 (GRCm39)	I83T	probably benign	Het
Ifit1	T	C	19: 34,625,404 (GRCm39)	V180A	possibly damaging	Het
Igkv9-129	A	T	6: 67,817,172 (GRCm39)	D92V	probably damaging	Het
Lrrc1	A	G	9: 77,406,551 (GRCm39)	F36S	probably damaging	Het
Man1b1	A	G	2: 25,224,416 (GRCm39)	E102G	possibly damaging	Het
Myh8	A	G	11: 67,179,031 (GRCm39)	S475G	probably benign	Het
Or52s1	T	A	7: 102,861,841 (GRCm39)	V247D	probably damaging	Het
Otud4	T	A	8: 80,390,419 (GRCm39)	M343K	probably benign	Het
Peg10	A	T	6: 4,756,647 (GRCm39)		probably benign	Het
Plet1	T	A	9: 50,415,722 (GRCm39)	N197K	probably benign	Het
Ppp1r12a	C	T	10: 108,097,115 (GRCm39)	R243C	probably damaging	Het
Serpinb10	A	T	1: 107,469,957 (GRCm39)	K146N	possibly damaging	Het
Sis	A	G	3: 72,835,630 (GRCm39)	F911L	probably benign	Het
Spon1	G	A	7: 113,632,260 (GRCm39)	V528M	possibly damaging	Het
Tdrd9	T	C	12: 112,010,733 (GRCm39)	V1100A	probably benign	Het
Tmtc3	T	C	10: 100,283,468 (GRCm39)	M696V	probably benign	Het
Triobp	A	G	15: 78,875,084 (GRCm39)	E122G	probably damaging	Het
Wt1	G	A	2: 105,000,368 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02