Mutagenetix > Incidental Mutation

Incidental Mutation 'R2171:Gtf3a'

237477

Institutional Source

Beutler Lab

Gene Symbol

Gtf3a

Ensembl Gene

ENSMUSG00000016503

Gene Name

general transcription factor III A

Synonyms

2610111I01Rik, 2010015D03Rik, 5330403M05Rik

MMRRC Submission

040173-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R2171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146885467-146892424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146892272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 341 (N341S)

Ref Sequence

ENSEMBL: ENSMUSP00000119607 (fasta)

Gene Model

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

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: 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 benign
Transcript: ENSMUST00000132102

SMART Domains

Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503

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

probably benign
Transcript: ENSMUST00000146511
AA Change: N341S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503
AA Change: N341S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133682

Predicted Effect

probably benign
Transcript: ENSMUST00000140526

SMART Domains

Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	A	G	13: 23,606,387 (GRCm39)	L189P	probably damaging	Het
Adgrl3	C	A	5: 81,660,362 (GRCm39)	S377*	probably null	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Arv1	T	G	8: 125,455,094 (GRCm39)	C102W	probably damaging	Het
Asb18	T	C	1: 89,896,419 (GRCm39)	H207R	probably benign	Het
Bach2	T	C	4: 32,501,662 (GRCm39)	V13A	probably damaging	Het
Bccip	T	C	7: 133,320,843 (GRCm39)	S206P	probably benign	Het
Cdhr4	T	C	9: 107,870,117 (GRCm39)	S41P	probably benign	Het
Chd7	A	G	4: 8,752,424 (GRCm39)	Y307C	probably damaging	Het
Clec4f	A	T	6: 83,629,846 (GRCm39)	S237R	possibly damaging	Het
Cntnap5a	A	G	1: 116,116,132 (GRCm39)	D538G	possibly damaging	Het
Col9a2	T	A	4: 120,902,198 (GRCm39)	C173*	probably null	Het
Ctr9	T	A	7: 110,646,117 (GRCm39)	M703K	possibly damaging	Het
Cyp2a12	A	G	7: 26,729,057 (GRCm39)	Y83C	probably damaging	Het
Eef1akmt3	A	C	10: 126,868,843 (GRCm39)	D210E	probably benign	Het
Erbin	A	G	13: 103,971,466 (GRCm39)	F717L	probably benign	Het
Hltf	T	C	3: 20,113,245 (GRCm39)	V6A	probably damaging	Het
Itga6	T	A	2: 71,650,358 (GRCm39)	Y135N	probably damaging	Het
Krt73	T	C	15: 101,709,345 (GRCm39)	Q154R	possibly damaging	Het
Lce1a1	C	T	3: 92,554,048 (GRCm39)	C142Y	unknown	Het
Lcorl	A	T	5: 45,904,493 (GRCm39)	I112N	probably damaging	Het
Ltbp1	C	T	17: 75,598,312 (GRCm39)	H916Y	probably damaging	Het
Lypla2	T	C	4: 135,697,915 (GRCm39)		probably null	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mmp1a	T	A	9: 7,475,357 (GRCm39)	D375E	probably damaging	Het
Nlrp14	T	G	7: 106,781,709 (GRCm39)	L302R	probably damaging	Het
Npy2r	T	G	3: 82,447,708 (GRCm39)	T243P	possibly damaging	Het
Or11h4	A	T	14: 50,973,876 (GRCm39)	S248T	probably benign	Het
Or51k2	T	C	7: 103,595,992 (GRCm39)	V73A	probably damaging	Het
Paqr9	A	T	9: 95,442,931 (GRCm39)	H307L	probably damaging	Het
Phc3	T	C	3: 31,005,078 (GRCm39)	T172A	probably damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Pik3c2g	C	T	6: 139,801,012 (GRCm39)	Q386*	probably null	Het
Pira2	T	C	7: 3,847,417 (GRCm39)	S91G	probably benign	Het
Plxna2	T	A	1: 194,482,925 (GRCm39)	N1539K	probably damaging	Het
Poc5	C	T	13: 96,547,257 (GRCm39)	H507Y	probably damaging	Het
Pou2f1	A	T	1: 165,707,925 (GRCm39)		probably benign	Het
Pthlh	T	G	6: 147,158,694 (GRCm39)	K89Q	probably damaging	Het
Rims4	A	T	2: 163,706,046 (GRCm39)		probably null	Het
Rnf138	A	G	18: 21,159,143 (GRCm39)	N188D	probably damaging	Het
Rreb1	A	G	13: 38,114,822 (GRCm39)	D727G	probably benign	Het
Sc5d	T	G	9: 42,166,682 (GRCm39)	K286Q	probably benign	Het
Slc10a5	C	T	3: 10,400,342 (GRCm39)	G106D	possibly damaging	Het
Smg6	A	T	11: 74,929,472 (GRCm39)	Q967L	probably damaging	Het
Spty2d1	C	T	7: 46,644,361 (GRCm39)	R636H	probably damaging	Het
Srms	A	T	2: 180,850,573 (GRCm39)	Y195*	probably null	Het
Susd4	A	G	1: 182,719,759 (GRCm39)	D458G	probably benign	Het
Tecta	T	C	9: 42,270,220 (GRCm39)	R1363G	probably damaging	Het
Thbs1	G	A	2: 117,953,060 (GRCm39)	G890D	probably damaging	Het
Tpp2	T	C	1: 43,996,606 (GRCm39)	V317A	probably benign	Het
Ttpa	T	C	4: 20,021,357 (GRCm39)	V175A	probably damaging	Het
Vps13b	G	T	15: 35,887,343 (GRCm39)	D3251Y	probably benign	Het
Vps54	A	G	11: 21,248,810 (GRCm39)	D441G	probably benign	Het
Zfp738	A	T	13: 67,819,096 (GRCm39)	Y298*	probably null	Het
Zfp804a	G	A	2: 82,087,527 (GRCm39)	C452Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,461 (GRCm39)	K698E	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
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
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'- ATCAGGGGCTCATCTGTTGG -3'
(R):5'- TTTCGTCACTTGAGCAAGAAAGAAG -3'

Sequencing Primer
(F):5'- GAGTGGATCCCCGTTGTGTAATG -3'
(R):5'- GGCGTACAGAGAATCCCAG -3'

Posted On

2014-10-02