Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00711:Gtf2a2'

12655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2a2

Ensembl Gene

ENSMUSG00000033543

Gene Name

general transcription factor II A, 2

Synonyms

Tfiia2, 12kDa, TfIIg

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL00711

Quality Score

Status

Chromosome

Chromosomal Location

69919832-69930148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69922658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 13 (N13I)

Ref Sequence

ENSEMBL: ENSMUSP00000113109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116552] [ENSMUST00000118198] [ENSMUST00000119413] [ENSMUST00000119905] [ENSMUST00000122087] [ENSMUST00000140305] [ENSMUST00000140265]

AlphaFold

Q80ZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000116552
AA Change: N13I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112251
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	2.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118198
AA Change: N13I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113501
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	2e-28	PFAM
Pfam:TFIIA_gamma_C	51	100	3.7e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119413
AA Change: N13I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113697
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	2	49	8.7e-27	PFAM
Pfam:TFIIA_gamma_C	52	100	5.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119905
AA Change: N13I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113061
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	1.6e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122087
AA Change: N13I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113109
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	5e-28	PFAM
Pfam:TFIIA_gamma_C	51	91	4.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131078

Predicted Effect

probably benign
Transcript: ENSMUST00000140305
AA Change: N13I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116962
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	1.5e-27	PFAM
Pfam:TFIIA_gamma_C	51	86	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140265
AA Change: N13I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121840
Gene: ENSMUSG00000033543
AA Change: N13I

Domain	Start	End	E-Value	Type
Pfam:TFIIA_gamma_N	1	49	1.2e-28	PFAM
low complexity region	51	60	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145816

Coding Region Coverage

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 the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,587,276 (GRCm39)	Y93C	probably damaging	Het
Golga4	T	C	9: 118,343,339 (GRCm39)		probably null	Het
Kcna2	T	C	3: 107,012,069 (GRCm39)	S217P	probably benign	Het
Rif1	T	C	2: 52,001,082 (GRCm39)	L1512P	probably benign	Het
Unc13d	A	C	11: 115,965,229 (GRCm39)	M203R	probably damaging	Het
Wdr75	C	T	1: 45,862,541 (GRCm39)	L787F	probably benign	Het
Zfp142	T	C	1: 74,611,593 (GRCm39)	Q734R	probably damaging	Het

Other mutations in Gtf2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5840:Gtf2a2	UTSW	9	69,922,575 (GRCm39)	splice site	probably benign
R7524:Gtf2a2	UTSW	9	69,922,629 (GRCm39)	nonsense	probably null

Posted On

2012-12-06