Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Gtf3a'

554121

Institutional Source

Beutler Lab

Gene Symbol

Gtf3a

Ensembl Gene

ENSMUSG00000016503

Gene Name

general transcription factor III A

Synonyms

2610111I01Rik, 2010015D03Rik, 5330403M05Rik

MMRRC Submission

045253-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146885467-146892424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146888085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 129 (Q129K)

Ref Sequence

ENSEMBL: ENSMUSP00000119607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016654] [ENSMUST00000066675] [ENSMUST00000110564] [ENSMUST00000110566] [ENSMUST00000132102] [ENSMUST00000146511]

AlphaFold

Q8VHT7

Predicted Effect

probably benign
Transcript: ENSMUST00000016654

SMART Domains

Protein: ENSMUSP00000016654
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066675

SMART Domains

Protein: ENSMUSP00000063398
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	73	144	2.1e-13	PFAM
Pfam:IF3_C	153	238	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110564

SMART Domains

Protein: ENSMUSP00000106193
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110566

SMART Domains

Protein: ENSMUSP00000106195
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132102
AA Change: Q129K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503
AA Change: Q129K

Domain	Start	End	E-Value	Type
ZnF_C2H2	38	62	1.86e0	SMART
ZnF_C2H2	68	92	6.32e-3	SMART
ZnF_C2H2	98	123	1.38e-3	SMART
ZnF_C2H2	130	154	1.33e-1	SMART
ZnF_C2H2	160	184	1.45e-2	SMART
ZnF_C2H2	187	211	8.09e-1	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	244	269	3.63e-3	SMART
ZnF_C2H2	275	299	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146511
AA Change: Q129K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503
AA Change: Q129K

Domain	Start	End	E-Value	Type
ZnF_C2H2	38	62	1.86e0	SMART
ZnF_C2H2	68	92	6.32e-3	SMART
ZnF_C2H2	98	123	1.38e-3	SMART
ZnF_C2H2	130	154	1.33e-1	SMART
ZnF_C2H2	160	184	1.45e-2	SMART
ZnF_C2H2	187	211	8.09e-1	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	244	269	3.63e-3	SMART
ZnF_C2H2	275	299	2.09e-3	SMART
low complexity region	338	361	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,390,347 (GRCm39)	T215A	probably benign	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,323,816 (GRCm39)		probably null	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,261,437 (GRCm39)	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Neu2	A	G	1: 87,524,297 (GRCm39)	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,125,127 (GRCm39)	F183L	probably benign	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	possibly damaging	Het

Other mutations in Gtf3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03096:Gtf3a	APN	5	146,890,763 (GRCm39)	missense	probably damaging	1.00
IGL03404:Gtf3a	APN	5	146,887,449 (GRCm39)	splice site	probably null
R0227:Gtf3a	UTSW	5	146,892,199 (GRCm39)	missense	probably damaging	1.00
R0365:Gtf3a	UTSW	5	146,885,747 (GRCm39)	missense	probably damaging	1.00
R0480:Gtf3a	UTSW	5	146,890,039 (GRCm39)	missense	probably damaging	1.00
R1697:Gtf3a	UTSW	5	146,888,723 (GRCm39)	missense	possibly damaging	0.88
R2171:Gtf3a	UTSW	5	146,892,272 (GRCm39)	missense	probably benign	0.00
R3917:Gtf3a	UTSW	5	146,892,244 (GRCm39)	missense	probably benign	0.26
R4867:Gtf3a	UTSW	5	146,888,723 (GRCm39)	nonsense	probably null
R5081:Gtf3a	UTSW	5	146,888,092 (GRCm39)	missense	probably benign	0.36
R5268:Gtf3a	UTSW	5	146,891,965 (GRCm39)	missense	probably damaging	1.00
R6056:Gtf3a	UTSW	5	146,892,338 (GRCm39)	unclassified	probably benign
R6376:Gtf3a	UTSW	5	146,890,798 (GRCm39)	splice site	probably null
R8855:Gtf3a	UTSW	5	146,885,721 (GRCm39)	missense	probably benign	0.00
Z1176:Gtf3a	UTSW	5	146,888,014 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGTGTCACGGAATGGC -3'
(R):5'- TCACGTGAATGCGCCCTAAG -3'

Sequencing Primer
(F):5'- GCCAGTGCTGTTAACCATTGAAC -3'
(R):5'- GAATGCGCCCTAAGTCAGTTTGC -3'

Posted On

2019-05-15