Mutagenetix > Incidental Mutation

Incidental Mutation 'R0968:Gtf3c3'

83933

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c3

Ensembl Gene

ENSMUSG00000041303

Gene Name

general transcription factor IIIC, polypeptide 3

Synonyms

MMRRC Submission

039097-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54435163-54478130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54456937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 488 (A488T)

Ref Sequence

ENSEMBL: ENSMUSP00000039420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041638]

AlphaFold

Q3TMP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041638
AA Change: A488T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: A488T

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
low complexity region	92	108	N/A	INTRINSIC
TPR	145	178	9.24e1	SMART
TPR	179	212	2.36e1	SMART
TPR	213	246	4.58e-4	SMART
TPR	247	280	6.4e1	SMART
Blast:TPR	286	319	6e-9	BLAST
low complexity region	353	365	N/A	INTRINSIC
TPR	452	485	1.87e1	SMART
low complexity region	549	560	N/A	INTRINSIC
TPR	807	840	3.27e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190419

Meta Mutation Damage Score

0.6542

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.0%
20x: 96.7%

Validation Efficiency

94% (34/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,967 (GRCm39)	V719M	probably damaging	Het
Abca13	A	G	11: 9,248,016 (GRCm39)	S2588G	probably benign	Het
Acaca	C	T	11: 84,129,859 (GRCm39)	Q405*	probably null	Het
Brms1l	G	A	12: 55,912,798 (GRCm39)	D264N	possibly damaging	Het
Cabcoco1	T	C	10: 68,272,202 (GRCm39)	M254V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Coro7	G	C	16: 4,487,919 (GRCm39)		probably benign	Het
Cylc2	A	G	4: 51,216,706 (GRCm39)	M1V	probably null	Het
Cyp3a11	G	A	5: 145,799,324 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,906,641 (GRCm39)	T4224M	probably damaging	Het
Dnah2	T	C	11: 69,339,345 (GRCm39)	E3054G	possibly damaging	Het
Dnm3	A	G	1: 161,847,388 (GRCm39)		probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Fgf12	T	C	16: 27,981,185 (GRCm39)	N177S	probably null	Het
Flt3	C	T	5: 147,278,037 (GRCm39)	V846I	possibly damaging	Het
Gm11569	A	T	11: 99,689,250 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,303 (GRCm39)	V181G	probably damaging	Het
Lars1	C	A	18: 42,351,648 (GRCm39)	R852L	probably benign	Het
Lca5	T	C	9: 83,305,222 (GRCm39)	T195A	probably benign	Het
Lrrc40	G	A	3: 157,742,426 (GRCm39)	D14N	probably damaging	Het
Map4k2	T	C	19: 6,395,487 (GRCm39)	S327P	probably damaging	Het
Mpp4	A	G	1: 59,169,249 (GRCm39)	F397L	probably damaging	Het
Mtus2	T	C	5: 148,014,994 (GRCm39)	S596P	probably benign	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Nadsyn1	T	C	7: 143,359,770 (GRCm39)	T401A	probably benign	Het
Pde6a	A	T	18: 61,386,809 (GRCm39)	E395D	probably damaging	Het
Plekhm2	A	G	4: 141,357,243 (GRCm39)	V743A	probably benign	Het
Pzp	A	T	6: 128,502,108 (GRCm39)	D80E	probably benign	Het
Rp1	A	T	1: 4,415,575 (GRCm39)	C1846S	probably benign	Het
Shbg	A	G	11: 69,508,014 (GRCm39)	L117P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Supt20	A	G	3: 54,615,821 (GRCm39)		probably benign	Het
Vcpip1	A	T	1: 9,816,604 (GRCm39)	I593N	probably damaging	Het

Other mutations in Gtf3c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Gtf3c3	APN	1	54,455,114 (GRCm39)	missense	probably damaging	0.99
IGL00435:Gtf3c3	APN	1	54,466,694 (GRCm39)	missense	possibly damaging	0.73
IGL01128:Gtf3c3	APN	1	54,468,035 (GRCm39)	missense	possibly damaging	0.91
R0243:Gtf3c3	UTSW	1	54,442,695 (GRCm39)	missense	possibly damaging	0.60
R0271:Gtf3c3	UTSW	1	54,467,971 (GRCm39)	missense	possibly damaging	0.96
R0571:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R0965:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1069:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1070:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1111:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1112:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1113:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1114:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1115:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1117:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1118:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1119:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1228:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1230:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1231:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1313:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1313:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1382:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1394:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1395:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1397:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1414:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1430:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1432:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1473:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1497:Gtf3c3	UTSW	1	54,477,098 (GRCm39)	missense	probably benign
R1556:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1563:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1638:Gtf3c3	UTSW	1	54,444,278 (GRCm39)	missense	probably damaging	1.00
R1695:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1716:Gtf3c3	UTSW	1	54,438,419 (GRCm39)	missense	probably damaging	1.00
R1745:Gtf3c3	UTSW	1	54,473,371 (GRCm39)	missense	probably damaging	1.00
R1767:Gtf3c3	UTSW	1	54,456,937 (GRCm39)	missense	probably damaging	1.00
R1799:Gtf3c3	UTSW	1	54,459,583 (GRCm39)	missense	possibly damaging	0.82
R1861:Gtf3c3	UTSW	1	54,477,997 (GRCm39)	missense	possibly damaging	0.87
R1940:Gtf3c3	UTSW	1	54,468,117 (GRCm39)	splice site	probably benign
R3804:Gtf3c3	UTSW	1	54,463,166 (GRCm39)	critical splice donor site	probably null
R4496:Gtf3c3	UTSW	1	54,463,291 (GRCm39)	missense	probably benign	0.03
R4621:Gtf3c3	UTSW	1	54,458,575 (GRCm39)	missense	probably damaging	1.00
R5131:Gtf3c3	UTSW	1	54,458,657 (GRCm39)	splice site	probably null
R5320:Gtf3c3	UTSW	1	54,445,032 (GRCm39)	missense	probably damaging	1.00
R5605:Gtf3c3	UTSW	1	54,455,085 (GRCm39)	missense	probably benign	0.06
R5854:Gtf3c3	UTSW	1	54,458,596 (GRCm39)	missense	probably benign	0.01
R6050:Gtf3c3	UTSW	1	54,445,229 (GRCm39)	missense	probably benign	0.00
R6441:Gtf3c3	UTSW	1	54,445,197 (GRCm39)	missense	probably benign	0.03
R6892:Gtf3c3	UTSW	1	54,455,100 (GRCm39)	missense	probably benign	0.00
R7114:Gtf3c3	UTSW	1	54,462,666 (GRCm39)	missense	probably benign
R7299:Gtf3c3	UTSW	1	54,456,867 (GRCm39)	missense	probably benign	0.01
R7441:Gtf3c3	UTSW	1	54,459,607 (GRCm39)	missense	probably benign	0.00
R7586:Gtf3c3	UTSW	1	54,442,752 (GRCm39)	missense	probably damaging	1.00
R7615:Gtf3c3	UTSW	1	54,462,731 (GRCm39)	missense	possibly damaging	0.49
R7634:Gtf3c3	UTSW	1	54,458,800 (GRCm39)	splice site	probably null
R7739:Gtf3c3	UTSW	1	54,444,198 (GRCm39)	missense	possibly damaging	0.94
R8349:Gtf3c3	UTSW	1	54,468,068 (GRCm39)	missense	probably damaging	1.00
R8449:Gtf3c3	UTSW	1	54,468,068 (GRCm39)	missense	probably damaging	1.00
R8755:Gtf3c3	UTSW	1	54,468,031 (GRCm39)	missense	probably benign
R8955:Gtf3c3	UTSW	1	54,462,722 (GRCm39)	missense	probably benign	0.00
R9290:Gtf3c3	UTSW	1	54,477,997 (GRCm39)	missense	possibly damaging	0.87
R9353:Gtf3c3	UTSW	1	54,445,211 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GCCATGCAAGCCTAAAGACCTGAG -3'
(R):5'- AGGATTGCAAATCAGTGAGGCTGTG -3'

Sequencing Primer
(F):5'- gaaggaccctgatgctcac -3'
(R):5'- TCAGTGAGGCTGTGTCATAAAG -3'

Posted On

2013-11-08