Mutagenetix > Incidental Mutations

Incidental Mutation 'R6376:Gtf3a'

514969

Institutional Source

Beutler Lab

Gene Symbol

Gtf3a

Ensembl Gene

ENSMUSG00000016503

Gene Name

general transcription factor III A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146948657-146955614 bp(+) (GRCm38)

Type of Mutation

unclassified (4960 bp from exon)

DNA Base Change (assembly)

A to T at 146953988 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016654] [ENSMUST00000066675] [ENSMUST00000110564] [ENSMUST00000110566] [ENSMUST00000125217] [ENSMUST00000132102] [ENSMUST00000140526] [ENSMUST00000146511]

Predicted Effect

probably null
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 null
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 null
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 null
Transcript: ENSMUST00000125217

SMART Domains

Protein: ENSMUSP00000120283
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	113	1.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132102
AA Change: N260Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503
AA Change: N260Y

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 null
Transcript: ENSMUST00000140526

SMART Domains

Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	109	6.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146511
AA Change: N260Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503
AA Change: N260Y

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

0.8184

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,428,156	E106D	probably damaging	Het
4933425L06Rik	T	C	13: 105,119,965	I514T	possibly damaging	Het
A830018L16Rik	A	T	1: 11,798,494	N333Y	probably damaging	Het
Abca4	T	A	3: 122,123,660	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,856,998	I495F	probably damaging	Het
Acsl3	T	C	1: 78,696,465	S373P	possibly damaging	Het
Adam7	A	G	14: 68,505,097	I689T	possibly damaging	Het
Akap11	G	A	14: 78,514,896	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,888,465	K309R	possibly damaging	Het
Apaf1	A	T	10: 91,023,811	I824N	probably damaging	Het
Apc2	T	A	10: 80,312,654	C1152S	probably damaging	Het
Arhgap17	C	A	7: 123,300,504	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,954,970	I19V	unknown	Het
Arnt	C	A	3: 95,490,625	P573H	probably damaging	Het
Arvcf	G	A	16: 18,405,132	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,645,728	W99*	probably null	Het
Atp13a5	T	A	16: 29,237,252	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,715,059	T1103A	probably damaging	Het
B4galnt4	C	A	7: 141,067,422	Q362K	possibly damaging	Het
Cd163l1	G	A	7: 140,228,729	G851D	probably damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cep170b	A	T	12: 112,732,068	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,045	Q62L	probably benign	Het
Ctsg	A	T	14: 56,101,653	C49*	probably null	Het
Cul9	T	C	17: 46,508,563	T2000A	probably damaging	Het
Dedd	C	T	1: 171,340,222	P155S	probably benign	Het
Dnah1	A	G	14: 31,275,608	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,605,894	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703	S519R	probably benign	Het
Eea1	A	G	10: 96,038,798	S1192G	probably benign	Het
Eif5b	T	C	1: 38,045,679	I869T	probably damaging	Het
Elavl4	C	A	4: 110,255,454		probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ets2	G	A	16: 95,718,993	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,469,710	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,728,729	Y144C	probably damaging	Het
Greb1	T	C	12: 16,699,579	E1082G	probably damaging	Het
Hoxc12	C	A	15: 102,937,089	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,409,432	L164I	probably damaging	Het
Ina	C	T	19: 47,015,125	A124V	probably benign	Het
Inhbb	T	A	1: 119,417,681	I293F	probably damaging	Het
Itpr3	A	G	17: 27,095,475	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,909,329	V1102I	probably benign	Het
Kalrn	A	T	16: 33,975,991	F1138Y	probably benign	Het
Large2	T	A	2: 92,370,508		probably benign	Het
Lats2	A	G	14: 57,722,509	S177P	probably benign	Het
Lims2	G	A	18: 31,954,462	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,483,443	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,629,046	T6P	probably benign	Het
Lrrk2	T	C	15: 91,742,266	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,821,034	M302K	probably damaging	Het
Mocos	G	A	18: 24,701,485	G860R	possibly damaging	Het
Mylk3	T	A	8: 85,358,942	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,599,511	D6N	probably damaging	Het
Nrp2	A	G	1: 62,719,017	N54S	possibly damaging	Het
Olfr715	A	G	7: 107,128,641	F251L	probably benign	Het
Pacsin1	A	T	17: 27,707,905	T195S	probably benign	Het
Pank4	T	C	4: 154,972,236		probably null	Het
Pdgfra	A	T	5: 75,166,519	M126L	probably benign	Het
Podxl	T	A	6: 31,528,497	T204S	probably benign	Het
Pole	G	A	5: 110,336,374	D2175N	probably damaging	Het
Pramef25	C	T	4: 143,950,697	G104E	probably benign	Het
Prkdc	A	G	16: 15,769,885	K2545E	probably benign	Het
Prodh	T	C	16: 18,079,985	I183V	probably benign	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,721,253	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,032,394	N164S	probably benign	Het
Samd4	A	T	14: 47,052,962	L175F	probably damaging	Het
Scimp	C	A	11: 70,798,067	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,461,499	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,203,322	R957G	probably benign	Het
Sptlc3	T	A	2: 139,636,772	N550K	probably benign	Het
Srebf1	T	C	11: 60,203,535	N609D	probably null	Het
Styxl1	A	T	5: 135,747,810	L164H	probably benign	Het
Synpo2l	A	T	14: 20,660,634	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,745,030	M19V	probably damaging	Het
Trappc8	G	C	18: 20,837,075	R953G	probably benign	Het
Trav13-1	A	G	14: 53,545,343	N50S	probably benign	Het
Trim12a	T	C	7: 104,306,034	K161E	probably benign	Het
Vipr1	C	A	9: 121,664,574	N230K	probably damaging	Het
Xirp1	A	T	9: 120,018,491	V3E	probably damaging	Het
Zfp768	A	G	7: 127,344,720	F82L	probably benign	Het

Other mutations in Gtf3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03096:Gtf3a	APN	5	146953953	missense	probably damaging	1.00
IGL03404:Gtf3a	APN	5	146950639	splice site	probably null
R0227:Gtf3a	UTSW	5	146955389	missense	probably damaging	1.00
R0365:Gtf3a	UTSW	5	146948937	missense	probably damaging	1.00
R0480:Gtf3a	UTSW	5	146953229	missense	probably damaging	1.00
R1697:Gtf3a	UTSW	5	146951913	missense	possibly damaging	0.88
R2171:Gtf3a	UTSW	5	146955462	missense	probably benign	0.00
R3917:Gtf3a	UTSW	5	146955434	missense	probably benign	0.26
R4867:Gtf3a	UTSW	5	146951913	nonsense	probably null
R5081:Gtf3a	UTSW	5	146951282	missense	probably benign	0.36
R5268:Gtf3a	UTSW	5	146955155	missense	probably damaging	1.00
R6056:Gtf3a	UTSW	5	146955528	unclassified	probably benign
R7151:Gtf3a	UTSW	5	146951275	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGTCATAGGACCAGACGGG -3'
(R):5'- TCTAGAGGTCCTAAATAGGCCTG -3'

Sequencing Primer
(F):5'- TACTCATGGGACGCTGGTTACAC -3'
(R):5'- AGGTCCTAAATAGGCCTGTTTAGCC -3'

Posted On

2018-05-04