Mutagenetix > Incidental Mutation

Incidental Mutation 'R1112:Gtf3c3'

96784

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c3

Ensembl Gene

ENSMUSG00000041303

Gene Name

general transcription factor IIIC, polypeptide 3

Synonyms

MMRRC Submission

039185-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1112 (G1)

Quality Score

225

Status

Not 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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

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
Ak7	A	G	12: 105,679,831 (GRCm39)	N122D	probably benign	Het
Arb2a	A	G	13: 77,910,005 (GRCm39)	Y40C	probably damaging	Het
Atrn	A	G	2: 130,841,081 (GRCm39)	D1161G	probably benign	Het
Bscl2	G	C	19: 8,817,098 (GRCm39)	G9R	possibly damaging	Het
Clstn2	T	C	9: 97,340,281 (GRCm39)	N697S	possibly damaging	Het
Ctnnd2	T	C	15: 30,922,026 (GRCm39)	V884A	probably damaging	Het
Dusp10	A	T	1: 183,769,097 (GRCm39)	Q21L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Foxn1	A	G	11: 78,261,856 (GRCm39)	F171S	probably benign	Het
Fxr2	A	G	11: 69,543,074 (GRCm39)	S624G	probably damaging	Het
Gorasp2	C	A	2: 70,521,158 (GRCm39)	P376Q	probably benign	Het
Gpr33	A	G	12: 52,070,155 (GRCm39)	S295P	probably damaging	Het
Hap1	C	T	11: 100,245,143 (GRCm39)	V23M	probably damaging	Het
Hsd3b5	C	T	3: 98,537,393 (GRCm39)	R41Q	probably benign	Het
Kif1c	T	G	11: 70,615,641 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Madd	A	G	2: 90,973,944 (GRCm39)	C1447R	probably damaging	Het
Myef2	A	C	2: 124,939,506 (GRCm39)	M426R	probably damaging	Het
Myh13	A	T	11: 67,245,576 (GRCm39)	D1072V	probably damaging	Het
Or1e34	A	C	11: 73,779,060 (GRCm39)	L46R	probably damaging	Het
Or51a5	C	T	7: 102,771,611 (GRCm39)	D123N	probably damaging	Het
Orc4	A	T	2: 48,823,584 (GRCm39)	N90K	probably damaging	Het
Padi4	C	T	4: 140,485,427 (GRCm39)	S246N	probably benign	Het
Pcdhb22	A	T	18: 37,652,821 (GRCm39)	T430S	possibly damaging	Het
Prkd3	T	C	17: 79,273,837 (GRCm39)	D473G	probably damaging	Het
Scn4a	T	C	11: 106,211,292 (GRCm39)	Y1575C	probably damaging	Het
Serpinb6d	A	G	13: 33,853,118 (GRCm39)	Y170C	probably damaging	Het
Slc12a2	A	T	18: 58,070,824 (GRCm39)	I1059L	probably benign	Het
Slc36a4	T	A	9: 15,634,811 (GRCm39)	F118I	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Srpra	A	G	9: 35,126,255 (GRCm39)	T483A	probably benign	Het
Sycp2	A	T	2: 177,994,329 (GRCm39)	D1198E	probably benign	Het
Ubash3b	T	C	9: 40,939,412 (GRCm39)	N287D	probably damaging	Het
Uggt1	T	C	1: 36,212,627 (GRCm39)	D905G	possibly damaging	Het
Zfp692	T	C	11: 58,202,388 (GRCm39)	L381P	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
R0968: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
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

2014-01-05