Mutagenetix > Incidental Mutation

Incidental Mutation 'R4020:Gtf2a1'

312751

Institutional Source

Beutler Lab

Gene Symbol

Gtf2a1

Ensembl Gene

ENSMUSG00000020962

Gene Name

general transcription factor II A, 1

Synonyms

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

MMRRC Submission

040954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91522036-91557261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91539351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000068562 (fasta)

Gene Model

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

AlphaFold

Q99PM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021345
AA Change: S133P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: S133P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063314
AA Change: S94P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: S94P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116715

Meta Mutation Damage Score

0.1413

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	C	8: 89,035,362 (GRCm39)	V89L	probably benign	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,369,388 (GRCm39)	T206I	probably benign	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Apob	C	T	12: 8,044,914 (GRCm39)	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,066,724 (GRCm39)		probably benign	Het
C1ra	A	T	6: 124,496,736 (GRCm39)	T391S	probably benign	Het
Catsperg2	C	A	7: 29,416,429 (GRCm39)	D328Y	probably damaging	Het
Ciapin1	G	T	8: 95,555,814 (GRCm39)	L119M	probably damaging	Het
Crhr2	A	G	6: 55,077,765 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,406,407 (GRCm39)	S455P	probably benign	Het
Dctn4	G	A	18: 60,671,329 (GRCm39)		probably benign	Het
Defa25	C	T	8: 21,575,245 (GRCm39)	R75C	probably benign	Het
Dnajc10	T	C	2: 80,175,296 (GRCm39)	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,482,292 (GRCm39)	F185L	probably damaging	Het
Dock9	T	C	14: 121,844,267 (GRCm39)	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,422 (GRCm39)	L302R	possibly damaging	Het
Efcab5	C	T	11: 76,994,930 (GRCm39)	V1214I	probably benign	Het
Erich3	G	A	3: 154,419,686 (GRCm39)	R260H	probably damaging	Het
Fam168b	T	C	1: 34,867,860 (GRCm39)	T47A	possibly damaging	Het
Gorasp1	G	A	9: 119,757,936 (GRCm39)	R290C	probably benign	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,693 (GRCm39)	I446V	probably benign	Het
Krtap5-1	T	C	7: 141,850,094 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,764,804 (GRCm39)	I17L	probably benign	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lss	T	C	10: 76,383,278 (GRCm39)	M526T	probably damaging	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,767,454 (GRCm39)	T221A	probably benign	Het
Muc21	T	C	17: 35,930,953 (GRCm39)		probably benign	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nfrkb	T	A	9: 31,325,407 (GRCm39)	L950Q	possibly damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or5b105	T	G	19: 13,079,790 (GRCm39)	K287Q	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pitrm1	A	G	13: 6,606,723 (GRCm39)	H259R	probably damaging	Het
Pllp	C	A	8: 95,406,072 (GRCm39)	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,926 (GRCm39)	T334A	probably benign	Het
Prep	T	C	10: 44,968,894 (GRCm39)		probably benign	Het
Ptprz1	C	A	6: 22,959,623 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,455,390 (GRCm39)	S170G	probably damaging	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,954,638 (GRCm39)	K56R	probably benign	Het
Ubr4	T	G	4: 139,179,116 (GRCm39)	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,151,182 (GRCm39)	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,405,816 (GRCm39)	N262K	probably benign	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably damaging	Het

Other mutations in Gtf2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Gtf2a1	APN	12	91,534,607 (GRCm39)	missense	probably benign	0.00
IGL02561:Gtf2a1	APN	12	91,542,527 (GRCm39)	missense	possibly damaging	0.93
IGL03035:Gtf2a1	APN	12	91,539,411 (GRCm39)	splice site	probably benign
PIT4618001:Gtf2a1	UTSW	12	91,534,543 (GRCm39)	missense	probably benign	0.09
R0436:Gtf2a1	UTSW	12	91,535,047 (GRCm39)	splice site	probably null
R1595:Gtf2a1	UTSW	12	91,556,323 (GRCm39)	missense	probably damaging	0.98
R2240:Gtf2a1	UTSW	12	91,553,513 (GRCm39)	missense	possibly damaging	0.87
R4043:Gtf2a1	UTSW	12	91,542,441 (GRCm39)	missense	probably benign	0.00
R4044:Gtf2a1	UTSW	12	91,542,441 (GRCm39)	missense	probably benign	0.00
R4095:Gtf2a1	UTSW	12	91,542,411 (GRCm39)	missense	possibly damaging	0.68
R4584:Gtf2a1	UTSW	12	91,529,700 (GRCm39)	missense	possibly damaging	0.66
R4585:Gtf2a1	UTSW	12	91,529,700 (GRCm39)	missense	possibly damaging	0.66
R4952:Gtf2a1	UTSW	12	91,542,523 (GRCm39)	missense	possibly damaging	0.70
R5465:Gtf2a1	UTSW	12	91,534,565 (GRCm39)	missense	possibly damaging	0.86
R5566:Gtf2a1	UTSW	12	91,534,368 (GRCm39)	missense	possibly damaging	0.63
R7055:Gtf2a1	UTSW	12	91,553,523 (GRCm39)	missense	possibly damaging	0.93
R7220:Gtf2a1	UTSW	12	91,534,498 (GRCm39)	missense	probably benign	0.00
R7282:Gtf2a1	UTSW	12	91,534,609 (GRCm39)	missense	possibly damaging	0.56
R7459:Gtf2a1	UTSW	12	91,542,426 (GRCm39)	missense	probably benign	0.00
R7484:Gtf2a1	UTSW	12	91,529,747 (GRCm39)	missense	probably benign	0.01
R9292:Gtf2a1	UTSW	12	91,534,964 (GRCm39)	nonsense	probably null
R9372:Gtf2a1	UTSW	12	91,534,592 (GRCm39)	missense	probably damaging	1.00
X0063:Gtf2a1	UTSW	12	91,539,386 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCAGTGTCAGCTATGAACTATCTTGG -3'
(R):5'- ATTCGAGCTGTTGATTTCCATAGG -3'

Sequencing Primer
(F):5'- GCTATTTGCACAAATCTTCC -3'
(R):5'- TCCTGCAGCTCTGAAGTA -3'

Posted On

2015-04-30