Mutagenetix > Incidental Mutation

Incidental Mutation 'R5081:Gtf3a'

453057

Institutional Source

Beutler Lab

Gene Symbol

Gtf3a

Ensembl Gene

ENSMUSG00000016503

Gene Name

general transcription factor III A

Synonyms

2610111I01Rik, 2010015D03Rik, 5330403M05Rik

MMRRC Submission

042670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146885467-146892424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146888092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 131 (V131E)

Ref Sequence

ENSEMBL: ENSMUSP00000115824 (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: V131E

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503
AA Change: V131E

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

noncoding transcript
Transcript: ENSMUST00000133296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133682

Predicted Effect

probably benign
Transcript: ENSMUST00000146511
AA Change: V131E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503
AA Change: V131E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

93% (65/70)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aig1	A	G	10: 13,677,644 (GRCm39)	I116T	probably benign	Het
Alox12	A	T	11: 70,146,140 (GRCm39)		probably null	Het
Ap3s1	T	A	18: 46,887,497 (GRCm39)	D43E	probably benign	Het
Arhgap35	A	G	7: 16,299,059 (GRCm39)	M2T	possibly damaging	Het
Asah2	T	A	19: 31,991,708 (GRCm39)	E451V	probably benign	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Ass1	G	A	2: 31,378,665 (GRCm39)		probably null	Het
Ccpg1	A	G	9: 72,906,360 (GRCm39)	T39A	possibly damaging	Het
Cd101	T	A	3: 100,911,021 (GRCm39)	Y879F	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh23	T	C	10: 60,272,586 (GRCm39)	T530A	possibly damaging	Het
Cep68	G	T	11: 20,188,477 (GRCm39)	Q643K	probably damaging	Het
Ces1c	A	G	8: 93,854,197 (GRCm39)	S113P	probably damaging	Het
Cnga4	T	C	7: 105,056,232 (GRCm39)	I278T	probably benign	Het
Col1a1	A	G	11: 94,842,402 (GRCm39)	D1440G	unknown	Het
Cspp1	A	G	1: 10,117,691 (GRCm39)	I48V	possibly damaging	Het
Ctsj	T	A	13: 61,151,664 (GRCm39)	S85C	possibly damaging	Het
Cyp39a1	C	A	17: 44,057,488 (GRCm39)	D442E	probably damaging	Het
Dock3	A	T	9: 106,868,292 (GRCm39)	F664Y	probably damaging	Het
Gpcpd1	A	T	2: 132,389,622 (GRCm39)	H244Q	probably benign	Het
Gtpbp3	A	T	8: 71,943,026 (GRCm39)	R147W	probably damaging	Het
H2-Oa	A	T	17: 34,313,344 (GRCm39)	I132F	probably damaging	Het
Hsd17b8	G	A	17: 34,246,552 (GRCm39)		probably benign	Het
Idi1	T	A	13: 8,937,963 (GRCm39)	C91*	probably null	Het
Itga11	A	G	9: 62,662,478 (GRCm39)	I484V	probably benign	Het
Kpna3	C	T	14: 61,628,694 (GRCm39)	S101N	probably damaging	Het
Larp4	G	A	15: 99,870,898 (GRCm39)		probably benign	Het
Mink1	T	C	11: 70,495,970 (GRCm39)	L390P	probably damaging	Het
Morc1	T	G	16: 48,322,715 (GRCm39)	S337R	probably benign	Het
Myo10	A	G	15: 25,786,026 (GRCm39)	R1236G	probably damaging	Het
Nkx3-1	T	C	14: 69,429,396 (GRCm39)	I138T	possibly damaging	Het
Nnt	T	C	13: 119,502,936 (GRCm39)	N489S	probably damaging	Het
Nrcam	A	T	12: 44,617,136 (GRCm39)	I711F	probably benign	Het
Ntrk3	A	G	7: 78,227,522 (GRCm39)	S4P	probably damaging	Het
Obsl1	T	C	1: 75,464,607 (GRCm39)	T1605A	possibly damaging	Het
Or1j17	A	G	2: 36,578,655 (GRCm39)	I214V	possibly damaging	Het
Or7g32	A	G	9: 19,408,557 (GRCm39)	E171G	probably benign	Het
Pank1	T	C	19: 34,856,316 (GRCm39)	H54R	probably benign	Het
Pgm2l1	A	G	7: 99,917,472 (GRCm39)	I530V	probably benign	Het
Psmd2	A	G	16: 20,480,405 (GRCm39)	T709A	probably benign	Het
Qsox1	G	T	1: 155,688,581 (GRCm39)		probably benign	Het
Rbm14	A	G	19: 4,852,823 (GRCm39)	S520P	probably benign	Het
Rbm15b	G	A	9: 106,762,120 (GRCm39)	R683C	probably benign	Het
Rhbdd2	T	A	5: 135,664,876 (GRCm39)	V69D	probably damaging	Het
Sart1	T	C	19: 5,438,576 (GRCm39)	E27G	possibly damaging	Het
Scn4a	G	A	11: 106,239,553 (GRCm39)	P153L	probably damaging	Het
Serpinb6d	A	T	13: 33,855,230 (GRCm39)	R301S	probably benign	Het
Sf3a2	C	A	10: 80,640,275 (GRCm39)		probably benign	Het
Syne1	T	C	10: 4,997,767 (GRCm39)	D400G	probably benign	Het
Tenm2	T	C	11: 35,915,460 (GRCm39)	S2025G	possibly damaging	Het
Ttc16	A	T	2: 32,657,988 (GRCm39)	D476E	probably damaging	Het
Ttc9c	A	T	19: 8,793,396 (GRCm39)	C81*	probably null	Het
Ulk2	G	A	11: 61,694,488 (GRCm39)	P474L	probably damaging	Het
Vmn1r66	A	G	7: 10,008,722 (GRCm39)	C104R	probably damaging	Het
Vwa2	C	T	19: 56,897,752 (GRCm39)	H686Y	probably 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
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
R7151:Gtf3a	UTSW	5	146,888,085 (GRCm39)	missense	probably benign	0.01
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'- CTTGACTGTGTCACGGAATGG -3'
(R):5'- ACCAACCGGTCACGTGAATG -3'

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

Posted On

2017-01-27