Mutagenetix > Incidental Mutation

Incidental Mutation 'R5262:Gtf2e1'

401527

Institutional Source

Beutler Lab

Gene Symbol

Gtf2e1

Ensembl Gene

ENSMUSG00000022828

Gene Name

general transcription factor II E, polypeptide 1 (alpha subunit)

Synonyms

FE, TFIIE-A, 2610024P03Rik, 56kDa

MMRRC Submission

042857-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37330158-37360151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37356293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 80 (T80A)

Ref Sequence

ENSEMBL: ENSMUSP00000023525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023524] [ENSMUST00000023525] [ENSMUST00000130028]

AlphaFold

Q9D0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000023524

SMART Domains

Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	8	128	8.5e-8	PFAM
Pfam:Roc	8	132	1.2e-16	PFAM
Pfam:Ras	8	178	7.9e-15	PFAM
Pfam:Gtr1_RagA	8	181	2.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000023525
AA Change: T80A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023525
Gene: ENSMUSG00000022828
AA Change: T80A

Domain	Start	End	E-Value	Type
TFIIE	28	175	2.69e-74	SMART
low complexity region	221	233	N/A	INTRINSIC
low complexity region	332	351	N/A	INTRINSIC
Pfam:TFIIE-A_C	354	440	9.9e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128036

Predicted Effect

probably benign
Transcript: ENSMUST00000130028

SMART Domains

Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827

Domain	Start	End	E-Value	Type
Pfam:Arf	1	126	3.3e-6	PFAM
Pfam:Gtr1_RagA	8	118	5.5e-8	PFAM
Pfam:MMR_HSR1	8	127	9.8e-8	PFAM
Pfam:Ras	8	128	9.5e-15	PFAM
Pfam:Miro	8	129	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130350

Meta Mutation Damage Score

0.2165

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,390,557 (GRCm39)	D821V	possibly damaging	Het
Ankdd1b	C	A	13: 96,557,281 (GRCm39)	R384L	probably damaging	Het
Ces1e	A	G	8: 93,950,586 (GRCm39)	F65S	probably damaging	Het
Cfap53	A	C	18: 74,462,530 (GRCm39)	S425R	probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,572 (GRCm39)	V188E	probably damaging	Het
Defb26	A	T	2: 152,349,878 (GRCm39)	M134K	unknown	Het
Dnah10	A	C	5: 124,862,220 (GRCm39)	K2158N	probably damaging	Het
Dnah9	C	T	11: 66,003,159 (GRCm39)	V882M	probably benign	Het
Dpyd	C	A	3: 118,591,071 (GRCm39)	Y186*	probably null	Het
Elovl1	G	A	4: 118,288,124 (GRCm39)		probably benign	Het
Fars2	T	A	13: 36,526,001 (GRCm39)	I329N	probably damaging	Het
Gstm1	T	A	3: 107,923,679 (GRCm39)	M109L	probably benign	Het
Gtf2h2	A	G	13: 100,618,356 (GRCm39)		probably benign	Het
Hrh4	G	T	18: 13,148,870 (GRCm39)	L77F	probably damaging	Het
Ifi47	A	G	11: 48,986,559 (GRCm39)	T109A	probably benign	Het
Igsf5	G	T	16: 96,192,237 (GRCm39)	E179*	probably null	Het
Ints8	A	G	4: 11,211,916 (GRCm39)	I885T	probably damaging	Het
Iqgap1	T	G	7: 80,376,490 (GRCm39)	I1341L	probably benign	Het
Kmt2b	A	G	7: 30,269,219 (GRCm39)	L2567P	probably damaging	Het
Lilrb4a	T	C	10: 51,369,303 (GRCm39)		probably null	Het
Maip1	G	A	1: 57,446,131 (GRCm39)	R67H	probably damaging	Het
Muc6	T	A	7: 141,237,375 (GRCm39)	I254F	possibly damaging	Het
Nfkb1	A	T	3: 135,318,173 (GRCm39)		probably null	Het
Nlrp4a	T	C	7: 26,159,236 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,308,655 (GRCm39)	I1477N	possibly damaging	Het
Pdgfa	A	G	5: 138,979,049 (GRCm39)	S52P	probably benign	Het
Pou1f1	G	T	16: 65,328,868 (GRCm39)	E196*	probably null	Het
Ppp2r5e	G	A	12: 75,640,045 (GRCm39)	R19W	probably damaging	Het
Ptn	T	A	6: 36,721,419 (GRCm39)	Q7L	probably benign	Het
Rbp3	G	T	14: 33,676,807 (GRCm39)	A252S	probably damaging	Het
Rcor2	G	T	19: 7,251,426 (GRCm39)	V313L	probably damaging	Het
Rtp3	A	T	9: 110,815,195 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,787,323 (GRCm39)	T1017A	probably damaging	Het
Scgb2b11	T	C	7: 31,908,776 (GRCm39)	N108S	probably benign	Het
Sgo2b	C	A	8: 64,396,171 (GRCm39)	L28F	probably damaging	Het
Shroom3	A	G	5: 93,112,432 (GRCm39)	E1850G	probably damaging	Het
Slc16a14	A	G	1: 84,890,612 (GRCm39)	L231P	probably benign	Het
Slfn5	A	G	11: 82,847,496 (GRCm39)	E127G	possibly damaging	Het
Snx16	C	T	3: 10,502,892 (GRCm39)	M118I	probably damaging	Het
Snx21	T	C	2: 164,633,741 (GRCm39)	F176L	probably damaging	Het
Tap2	A	G	17: 34,432,990 (GRCm39)	N424S	probably benign	Het
Tcf7l1	T	C	6: 72,613,449 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,951,247 (GRCm39)	V1400I	probably benign	Het
Trim58	T	C	11: 58,542,494 (GRCm39)	Y485H	possibly damaging	Het
U2af1l4	C	T	7: 30,263,638 (GRCm39)	T65I	probably benign	Het
Ufl1	G	T	4: 25,251,294 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,593,031 (GRCm39)	N762S	probably damaging	Het
Virma	A	T	4: 11,539,926 (GRCm39)	D1465V	probably benign	Het
Vmn1r48	A	T	6: 90,013,016 (GRCm39)	S270T	probably benign	Het
Vrk2	T	A	11: 26,541,697 (GRCm39)	Y9F	possibly damaging	Het
Wwp1	A	G	4: 19,631,057 (GRCm39)	F659L	probably damaging	Het
Zbtb24	C	T	10: 41,340,556 (GRCm39)	Q529*	probably null	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		probably benign	Het

Other mutations in Gtf2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Gtf2e1	APN	16	37,356,282 (GRCm39)	missense	possibly damaging	0.90
IGL00966:Gtf2e1	APN	16	37,336,092 (GRCm39)	missense	probably benign
IGL03372:Gtf2e1	APN	16	37,356,077 (GRCm39)	unclassified	probably benign
R2202:Gtf2e1	UTSW	16	37,331,904 (GRCm39)	missense	possibly damaging	0.49
R2203:Gtf2e1	UTSW	16	37,331,904 (GRCm39)	missense	possibly damaging	0.49
R6457:Gtf2e1	UTSW	16	37,356,698 (GRCm39)	splice site	probably null
R6522:Gtf2e1	UTSW	16	37,331,816 (GRCm39)	missense	possibly damaging	0.47
R7165:Gtf2e1	UTSW	16	37,356,228 (GRCm39)	missense	probably damaging	1.00
R7297:Gtf2e1	UTSW	16	37,356,427 (GRCm39)	missense	probably damaging	1.00
R8123:Gtf2e1	UTSW	16	37,336,105 (GRCm39)	missense	possibly damaging	0.86
R8273:Gtf2e1	UTSW	16	37,343,213 (GRCm39)	missense	probably damaging	0.98
R9142:Gtf2e1	UTSW	16	37,356,364 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ACCTGTCATGGGATCAAACAGTTG -3'
(R):5'- AGCCAAGTATGTCATCCGGG -3'

Sequencing Primer
(F):5'- CAAACAGTTGATTGGCTTCTAGGTC -3'
(R):5'- CAAGTATGTCATCCGGGGCTTTTATG -3'

Posted On

2016-07-06