Mutagenetix > Incidental Mutations

Incidental Mutation 'R7459:Gtf2a1'

578345

Institutional Source

Beutler Lab

Gene Symbol

Gtf2a1

Ensembl Gene

ENSMUSG00000020962

Gene Name

general transcription factor II A, 1

Synonyms

Tfiia1, TfIIAa/b, 19kDa, 37kDa, 6330549H03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91555262-91590487 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91575652 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 91 (A91V)

Ref Sequence

ENSEMBL: ENSMUSP00000021345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021345] [ENSMUST00000063314]

Predicted Effect

probably benign
Transcript: ENSMUST00000021345
AA Change: A91V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: A91V

Domain	Start	End	E-Value	Type
TFIIA	12	378	5.47e-146	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063314
AA Change: A52V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: A52V

Domain	Start	End	E-Value	Type
Pfam:TFIIA	1	339	9.3e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele where D/G cleavage residues are replaced with noncleavable A/A show neonatal lethality, feeding defects, low testis weight, and male infertility associated with azoospermia, small seminiferous tubules, lack of elongating spermatids, and increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	G	8: 84,167,352	S383A	probably benign	Het
Adgre1	T	A	17: 57,449,933	V730E	probably damaging	Het
Agbl1	G	A	7: 76,420,066	D449N	not run	Het
Agr2	A	T	12: 35,997,453	E96V	probably benign	Het
Als2cr12	T	G	1: 58,691,752	E48D	possibly damaging	Het
Atp1a2	A	C	1: 172,287,295	S308A	probably benign	Het
Birc7	T	C	2: 180,929,357	S71P	possibly damaging	Het
Camk2g	T	C	14: 20,779,207	I73V	probably damaging	Het
Carf	C	A	1: 60,128,039	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,947,457	Q665*	probably null	Het
Cd79a	A	T	7: 24,899,142	T39S	possibly damaging	Het
Ces5a	C	A	8: 93,535,741		probably benign	Het
Dkk2	C	A	3: 132,175,029	T145N	probably benign	Het
Dot1l	C	T	10: 80,773,173	A188V	probably damaging	Het
Egfr	T	A	11: 16,896,967	V788D	probably damaging	Het
Esyt3	T	A	9: 99,358,064	H109L	probably benign	Het
Fam129c	T	A	8: 71,605,027	C516S	possibly damaging	Het
Fam234b	C	T	6: 135,211,901	T168I	probably benign	Het
Fan1	G	T	7: 64,348,966	S936Y	probably damaging	Het
Fat2	T	C	11: 55,303,919	E1098G	probably damaging	Het
Fcgbp	A	G	7: 28,107,285	D2226G	possibly damaging	Het
Flvcr2	T	C	12: 85,747,057	V69A	probably benign	Het
Foxb2	T	A	19: 16,873,072	H190L	unknown	Het
Fut4	C	T	9: 14,751,306	V231M	possibly damaging	Het
Hip1	A	G	5: 135,414,297	S961P	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Hspbp1	G	T	7: 4,684,578	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,980,812	E81K	probably benign	Het
Isg20l2	T	C	3: 87,932,178	L232P	possibly damaging	Het
Isx	A	G	8: 74,892,764	Y181C	probably benign	Het
Kif9	A	G	9: 110,519,041	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,897,337	V177D	probably benign	Het
Lpin3	T	C	2: 160,897,300	S343P	probably benign	Het
Mat1a	A	T	14: 41,120,184	Q246L	probably benign	Het
Mlkl	T	C	8: 111,333,530	I75V	probably benign	Het
Ndufa7	T	A	17: 33,838,166	S107T	probably damaging	Het
Nip7	T	A	8: 107,057,336	C69*	probably null	Het
Nipa2	A	T	7: 55,933,341	W219R	probably damaging	Het
Oas2	A	C	5: 120,749,710	S22A	unknown	Het
Obscn	A	G	11: 59,131,657	V754A	probably benign	Het
Olfr1249	G	A	2: 89,630,668	P77S	probably damaging	Het
Osbpl1a	C	T	18: 12,933,585	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,479,553	Y522F	probably benign	Het
Pced1a	T	G	2: 130,419,824	D303A	possibly damaging	Het
Peli1	T	A	11: 21,148,190	Y308*	probably null	Het
Pfas	T	A	11: 68,988,655	R243W		Het
Pik3r5	C	A	11: 68,492,590	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,902,428	I1135N		Het
Prune1	C	A	3: 95,281,710		probably benign	Het
Ptpn4	T	A	1: 119,659,834	K926N	probably damaging	Het
Ptpre	A	G	7: 135,667,600	N277S	probably benign	Het
Raver2	A	T	4: 101,107,213	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,910,634	V187A	probably benign	Het
Rgs3	A	G	4: 62,625,154	E242G	probably benign	Het
Rims2	T	G	15: 39,517,839	S1055R	probably benign	Het
Rnf146	T	C	10: 29,347,644	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,140,559	S455G	probably benign	Het
Samm50	T	C	15: 84,195,856		probably null	Het
Sh3bgr	A	G	16: 96,205,922	K31E	probably benign	Het
Slc39a8	T	C	3: 135,886,911	I449T	probably damaging	Het
Slc5a3	A	T	16: 92,079,017	Y654F	probably benign	Het
Spata1	T	A	3: 146,476,222	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,799,353		probably benign	Het
Stard13	A	C	5: 151,047,599	S848A	probably damaging	Het
Stat2	A	G	10: 128,276,565	S25G	possibly damaging	Het
Tet2	C	T	3: 133,480,289	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tmem266	T	C	9: 55,396,599	L3P	unknown	Het
Tns3	A	T	11: 8,492,793	D523E	probably benign	Het
Trim3	A	T	7: 105,617,808	S455T	probably damaging	Het
Trim31	T	C	17: 36,909,662	V490A	probably damaging	Het
Trmt11	A	C	10: 30,590,043	N168K	probably benign	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Ttn	C	A	2: 76,919,138	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,519,803	D377N	probably damaging	Het
Ubl7	A	G	9: 57,914,592	T75A	probably damaging	Het
Ugt2b34	T	G	5: 86,901,275	D297A	possibly damaging	Het
Usp34	A	T	11: 23,364,458	H800L	possibly damaging	Het
Utp3	C	A	5: 88,555,553	L314M	probably damaging	Het
Zer1	A	G	2: 30,113,325	Y27H	probably damaging	Het

Other mutations in Gtf2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Gtf2a1	APN	12	91567833	missense	probably benign	0.00
IGL02561:Gtf2a1	APN	12	91575753	missense	possibly damaging	0.93
IGL03035:Gtf2a1	APN	12	91572637	splice site	probably benign
PIT4618001:Gtf2a1	UTSW	12	91567769	missense	probably benign	0.09
R0436:Gtf2a1	UTSW	12	91568273	splice site	probably null
R1595:Gtf2a1	UTSW	12	91589549	missense	probably damaging	0.98
R2240:Gtf2a1	UTSW	12	91586739	missense	possibly damaging	0.87
R4020:Gtf2a1	UTSW	12	91572577	missense	possibly damaging	0.92
R4043:Gtf2a1	UTSW	12	91575667	missense	probably benign	0.00
R4044:Gtf2a1	UTSW	12	91575667	missense	probably benign	0.00
R4095:Gtf2a1	UTSW	12	91575637	missense	possibly damaging	0.68
R4584:Gtf2a1	UTSW	12	91562926	missense	possibly damaging	0.66
R4585:Gtf2a1	UTSW	12	91562926	missense	possibly damaging	0.66
R4952:Gtf2a1	UTSW	12	91575749	missense	possibly damaging	0.70
R5465:Gtf2a1	UTSW	12	91567791	missense	possibly damaging	0.86
R5566:Gtf2a1	UTSW	12	91567594	missense	possibly damaging	0.63
R7055:Gtf2a1	UTSW	12	91586749	missense	possibly damaging	0.93
R7220:Gtf2a1	UTSW	12	91567724	missense	probably benign	0.00
R7282:Gtf2a1	UTSW	12	91567835	missense	possibly damaging	0.56
R7484:Gtf2a1	UTSW	12	91562973	missense	probably benign	0.01
X0063:Gtf2a1	UTSW	12	91572612	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTATAGATCTCCAGACCCCAGCATC -3'
(R):5'- AGTCACTGAGAAGCTTTACTGTTC -3'

Sequencing Primer
(F):5'- CATCTGTAATGGGATCTAATGCCC -3'
(R):5'- GAGAAGCTTTACTGTTCTTCGTC -3'

Posted On

2019-10-07