Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03213:Gtf2e2'

413369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2e2

Ensembl Gene

ENSMUSG00000031585

Gene Name

general transcription factor II E, polypeptide 2 (beta subunit)

Synonyms

C330006J08Rik, 34kDa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03213

Quality Score

Status

Chromosome

Chromosomal Location

34221942-34267201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34242525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 76 (F76L)

Ref Sequence

ENSEMBL: ENSMUSP00000132287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010] [ENSMUST00000179364] [ENSMUST00000187392] [ENSMUST00000190639]

AlphaFold

Q9D902

Predicted Effect

probably damaging
Transcript: ENSMUST00000167264
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129834
Gene: ENSMUSG00000031585
AA Change: F76L

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
Pfam:TFIIE_beta	75	146	2.3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170705
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126284
Gene: ENSMUSG00000031585
AA Change: F76L

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
Pfam:TFIIE_beta	73	146	1.7e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171010
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132287
Gene: ENSMUSG00000031585
AA Change: F76L

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
Pfam:TFIIE_beta	73	146	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179364

SMART Domains

Protein: ENSMUSP00000136891
Gene: ENSMUSG00000094500

Domain	Start	End	E-Value	Type
Pfam:DUF4713	8	61	6.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187392

SMART Domains

Protein: ENSMUSP00000141167
Gene: ENSMUSG00000031585

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190639
AA Change: F76L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141016
Gene: ENSMUSG00000031585
AA Change: F76L

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
Pfam:TFIIE_beta	73	127	2.5e-16	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	T	2: 22,831,971 (GRCm39)	D447E	probably damaging	Het
Aldh8a1	T	C	10: 21,260,616 (GRCm39)	V175A	probably damaging	Het
Aoc1l3	A	G	6: 48,965,279 (GRCm39)	D429G	possibly damaging	Het
Arap2	T	A	5: 62,906,438 (GRCm39)	T194S	probably benign	Het
Arih2	T	C	9: 108,484,546 (GRCm39)	T422A	probably damaging	Het
Arl5b	T	A	2: 15,074,676 (GRCm39)	N52K	probably damaging	Het
Atg13	G	A	2: 91,515,512 (GRCm39)	H227Y	probably damaging	Het
Ccdc178	T	C	18: 22,253,748 (GRCm39)	T164A	possibly damaging	Het
Cep192	T	C	18: 67,998,708 (GRCm39)	V2074A	probably damaging	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Chrm3	G	A	13: 9,928,220 (GRCm39)	T272I	probably benign	Het
Cln8	A	G	8: 14,944,845 (GRCm39)	Y53C	probably damaging	Het
Cwc27	T	A	13: 104,932,911 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,892,529 (GRCm39)		probably benign	Het
Dchs1	G	T	7: 105,404,279 (GRCm39)	N2754K	probably damaging	Het
Dclk1	A	T	3: 55,387,805 (GRCm39)	K84*	probably null	Het
Ednra	T	C	8: 78,446,848 (GRCm39)	T77A	probably benign	Het
Epn2	T	C	11: 61,410,510 (GRCm39)	N553D	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gm10784	T	A	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,341,527 (GRCm39)	V504E	probably damaging	Het
Ifitm2	A	G	7: 140,535,677 (GRCm39)	V51A	possibly damaging	Het
Il16	C	T	7: 83,295,708 (GRCm39)	E456K	probably damaging	Het
Lmod2	A	T	6: 24,603,615 (GRCm39)	I197F	possibly damaging	Het
Lrrc14	T	C	15: 76,597,983 (GRCm39)	S238P	possibly damaging	Het
Map3k1	A	G	13: 111,885,426 (GRCm39)		probably benign	Het
Phf11d	C	A	14: 59,586,797 (GRCm39)	R210S	probably benign	Het
Pigu	T	C	2: 155,177,291 (GRCm39)	N103S	probably damaging	Het
Rgsl1	A	G	1: 153,701,587 (GRCm39)	V289A	probably benign	Het
Rp1l1	T	A	14: 64,265,864 (GRCm39)	S483R	probably damaging	Het
Ryr2	A	T	13: 11,739,273 (GRCm39)		probably benign	Het
Sema3c	T	G	5: 17,899,637 (GRCm39)		probably benign	Het
Septin4	G	T	11: 87,458,184 (GRCm39)		probably null	Het
Sfmbt2	A	G	2: 10,409,385 (GRCm39)	Y110C	probably damaging	Het
Slc12a3	T	C	8: 95,061,933 (GRCm39)	V328A	possibly damaging	Het
Smarca2	G	A	19: 26,601,375 (GRCm39)	G31D	probably damaging	Het
Spmip1	G	A	6: 29,471,792 (GRCm39)	M89I	probably damaging	Het
Tenm2	T	G	11: 35,914,157 (GRCm39)	E2460A	probably benign	Het
Trim58	T	A	11: 58,541,993 (GRCm39)	W318R	probably benign	Het
Ube3a	C	T	7: 58,935,870 (GRCm39)	Q585*	probably null	Het
Vmn2r17	T	C	5: 109,582,256 (GRCm39)		probably null	Het
Zfp647	A	G	15: 76,796,177 (GRCm39)	V161A	possibly damaging	Het

Other mutations in Gtf2e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Gtf2e2	APN	8	34,266,473 (GRCm39)	splice site	probably benign
IGL02154:Gtf2e2	APN	8	34,245,989 (GRCm39)	critical splice donor site	probably null
R0383:Gtf2e2	UTSW	8	34,245,973 (GRCm39)	missense	probably damaging	1.00
R4012:Gtf2e2	UTSW	8	34,245,993 (GRCm39)	splice site	probably benign
R4429:Gtf2e2	UTSW	8	34,242,521 (GRCm39)	nonsense	probably null
R5987:Gtf2e2	UTSW	8	34,266,081 (GRCm39)	missense	probably benign	0.34
R5987:Gtf2e2	UTSW	8	34,266,080 (GRCm39)	missense	probably damaging	1.00
R6337:Gtf2e2	UTSW	8	34,266,043 (GRCm39)	nonsense	probably null
R6949:Gtf2e2	UTSW	8	34,248,726 (GRCm39)	missense	probably damaging	1.00
R7607:Gtf2e2	UTSW	8	34,266,493 (GRCm39)	missense	probably benign	0.28
R8532:Gtf2e2	UTSW	8	34,248,633 (GRCm39)	missense	probably damaging	1.00
R9570:Gtf2e2	UTSW	8	34,252,076 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02