Mutagenetix > Incidental Mutation

Incidental Mutation 'R4043:Gtf2a1'

313949

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

041615-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91522036-91557261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91542441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 47 (H47R)

Ref Sequence

ENSEMBL: ENSMUSP00000068562 (fasta)

Gene Model

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

AlphaFold

Q99PM3

Predicted Effect

probably benign
Transcript: ENSMUST00000021345
AA Change: H86R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: H86R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063314
AA Change: H47R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: H47R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116715

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.9%

Validation Efficiency

97% (64/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,409,360 (GRCm39)	N44D	probably benign	Het
AU018091	A	G	7: 3,208,962 (GRCm39)	F375L	probably damaging	Het
Bsph1	G	T	7: 13,192,201 (GRCm39)		probably null	Het
Casp1	A	G	9: 5,302,444 (GRCm39)	D122G	probably benign	Het
Ccdc146	C	T	5: 21,521,941 (GRCm39)	C361Y	probably benign	Het
Cdc37l1	T	C	19: 28,968,028 (GRCm39)	S31P	possibly damaging	Het
Cdca2	A	T	14: 67,941,455 (GRCm39)	M249K	probably benign	Het
Cfap73	C	T	5: 120,768,030 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,612,575 (GRCm39)	L749S	probably damaging	Het
Cmtr2	C	A	8: 110,948,462 (GRCm39)	C257*	probably null	Het
Col6a4	A	T	9: 105,949,610 (GRCm39)	L675*	probably null	Het
Cpne8	A	T	15: 90,456,204 (GRCm39)	D186E	probably damaging	Het
Csmd3	A	G	15: 47,619,362 (GRCm39)		probably null	Het
Daglb	T	A	5: 143,472,906 (GRCm39)	Y354N	possibly damaging	Het
Dlgap1	T	C	17: 71,068,075 (GRCm39)	S549P	probably damaging	Het
Dnah11	T	C	12: 117,843,678 (GRCm39)	D4389G	probably damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
Gimap1	T	A	6: 48,720,176 (GRCm39)	W263R	probably damaging	Het
Gne	A	C	4: 44,040,383 (GRCm39)	C594G	possibly damaging	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Helz2	T	C	2: 180,871,503 (GRCm39)	D2703G	probably benign	Het
Jmjd1c	G	A	10: 67,055,245 (GRCm39)	V222I	possibly damaging	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Lrrc37a	T	G	11: 103,389,479 (GRCm39)	H1982P	possibly damaging	Het
Med13l	T	A	5: 118,731,528 (GRCm39)	L68Q	probably damaging	Het
Megf10	C	A	18: 57,392,870 (GRCm39)	D422E	probably damaging	Het
Mpz	C	T	1: 170,987,340 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,361,215 (GRCm39)	T1508S	possibly damaging	Het
Myo3a	C	T	2: 22,338,350 (GRCm39)		probably benign	Het
Ndnf	A	T	6: 65,680,920 (GRCm39)	N400Y	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or7g35	G	T	9: 19,496,291 (GRCm39)	V153F	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pappa	A	G	4: 65,232,824 (GRCm39)	N1321S	probably benign	Het
Patl1	T	A	19: 11,920,314 (GRCm39)	L756Q	probably damaging	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Plekhg2	G	A	7: 28,064,144 (GRCm39)		probably benign	Het
Ppp2r2d	G	A	7: 138,484,145 (GRCm39)	W265*	probably null	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radil	T	A	5: 142,479,988 (GRCm39)	I471F	probably benign	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Rpl10l	A	T	12: 66,330,977 (GRCm39)	M52K	probably damaging	Het
Scn1a	A	T	2: 66,156,380 (GRCm39)	S510T	possibly damaging	Het
Sdad1	T	G	5: 92,450,553 (GRCm39)	N194T	probably damaging	Het
Sel1l3	A	T	5: 53,345,396 (GRCm39)	Y259*	probably null	Het
Slc22a26	T	C	19: 7,765,694 (GRCm39)		probably null	Het
Snap91	C	T	9: 86,659,102 (GRCm39)	G477D	probably damaging	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Srr	T	C	11: 74,799,947 (GRCm39)	T202A	probably benign	Het
Srrm1	C	T	4: 135,068,242 (GRCm39)		probably benign	Het
Trp53bp2	T	A	1: 182,276,626 (GRCm39)	L869Q	possibly damaging	Het
Ttbk1	T	A	17: 46,757,688 (GRCm39)	D982V	probably benign	Het
Ttn	T	C	2: 76,624,501 (GRCm39)	T15324A	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vps8	A	C	16: 21,345,146 (GRCm39)	D823A	probably damaging	Het
Zfp616	T	A	11: 73,976,108 (GRCm39)	N792K	possibly damaging	Het
Zfpm2	A	T	15: 40,734,023 (GRCm39)	D2V	possibly damaging	Het
Zfyve16	A	C	13: 92,650,271 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,195,765 (GRCm39)		probably benign	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
R4020:Gtf2a1	UTSW	12	91,539,351 (GRCm39)	missense	possibly damaging	0.92
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'- TCAGTATAGATCTCCAGACCCCAG -3'
(R):5'- CCAGAGTTTTCTTTAAGTCACTGAG -3'

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

Posted On

2015-04-30