Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Gtf2a1'

580013

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

045558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91522036-91557261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91529747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

Ref Sequence

ENSEMBL: ENSMUSP00000021345 (fasta)

Gene Model

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

AlphaFold

Q99PM3

Predicted Effect

probably benign
Transcript: ENSMUST00000021345
AA Change: V322A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: V322A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063314
AA Change: V283A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: V283A

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: 99.2%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
R4020:Gtf2a1	UTSW	12	91,539,351 (GRCm39)	missense	possibly damaging	0.92
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
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'- TTTCGCACTGGCTATAAAAGGG -3'
(R):5'- GCATTGACAACACTGCATTCAG -3'

Sequencing Primer
(F):5'- TAGCTAGCTTCCTACACAGGG -3'
(R):5'- CATTCAGTGTGTCCAGGTAAATGCC -3'

Posted On

2019-10-07