Mutagenetix > Incidental Mutation

Incidental Mutation 'R6078:Tfe3'

482844

Institutional Source

Beutler Lab

Gene Symbol

Tfe3

Ensembl Gene

ENSMUSG00000000134

Gene Name

transcription factor E3

Synonyms

Tfe3, bHLHe33, F830016E06Rik, Tfe-3, Tcfe3

Accession Numbers

Essential gene?

Not available question?

Stock #

R6078 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

7628799-7641441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7637288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 231 (L231P)

Ref Sequence

ENSEMBL: ENSMUSP00000111342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077680] [ENSMUST00000079542] [ENSMUST00000101695] [ENSMUST00000115677] [ENSMUST00000115678] [ENSMUST00000115679] [ENSMUST00000115680] [ENSMUST00000137467] [ENSMUST00000144900]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000077680
AA Change: L371P

SMART Domains

Protein: ENSMUSP00000076864
Gene: ENSMUSG00000000134
AA Change: L371P

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
low complexity region	84	105	N/A	INTRINSIC
Pfam:MITF_TFEB_C_3_N	112	265	1e-57	PFAM
HLH	351	404	2.72e-16	SMART
Pfam:DUF3371	431	571	4.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079542
AA Change: L336P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078498
Gene: ENSMUSG00000000134
AA Change: L336P

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
low complexity region	84	105	N/A	INTRINSIC
low complexity region	114	150	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
HLH	316	369	2.72e-16	SMART
Pfam:DUF3371	396	537	4.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101695
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099219
Gene: ENSMUSG00000000134
AA Change: L266P

Domain	Start	End	E-Value	Type
low complexity region	9	45	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
HLH	246	299	2.72e-16	SMART
Pfam:DUF3371	326	467	1.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115677
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111341
Gene: ENSMUSG00000000134
AA Change: L266P

Domain	Start	End	E-Value	Type
low complexity region	9	45	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
HLH	246	299	2.72e-16	SMART
Pfam:DUF3371	326	467	1.2e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115678
AA Change: L231P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111342
Gene: ENSMUSG00000000134
AA Change: L231P

Domain	Start	End	E-Value	Type
low complexity region	9	45	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
HLH	211	264	2.72e-16	SMART
Pfam:DUF3371	291	432	8.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115679
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111343
Gene: ENSMUSG00000000134
AA Change: L266P

Domain	Start	End	E-Value	Type
low complexity region	9	45	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
HLH	246	299	2.72e-16	SMART
Pfam:DUF3371	326	467	1.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115680

Predicted Effect

probably benign
Transcript: ENSMUST00000137467
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134125
Gene: ENSMUSG00000000134
AA Change: L266P

Domain	Start	End	E-Value	Type
low complexity region	9	45	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
HLH	246	299	2.72e-16	SMART
Pfam:DUF3371	326	467	1.2e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144715

Predicted Effect

probably benign
Transcript: ENSMUST00000144900

SMART Domains

Protein: ENSMUSP00000120920
Gene: ENSMUSG00000000134

Domain	Start	End	E-Value	Type
low complexity region	47	63	N/A	INTRINSIC
low complexity region	64	85	N/A	INTRINSIC
low complexity region	94	130	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, normally pigmented, have normal eyes and mast cells, and show no evidence of osteopetrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcc8	T	C	7: 45,755,268 (GRCm39)	M1511V	probably benign	Het
Abcc9	A	G	6: 142,585,301 (GRCm39)	F801S	probably damaging	Het
Adam39	C	T	8: 41,277,630 (GRCm39)	A7V	probably benign	Het
Adgra2	G	A	8: 27,604,457 (GRCm39)	A511T	probably damaging	Het
Akap9	T	C	5: 4,117,924 (GRCm39)		probably null	Het
Atp2b4	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	1: 133,629,440 (GRCm39)		probably benign	Het
Cbfa2t3	T	C	8: 123,370,236 (GRCm39)	H53R	probably benign	Het
Edc4	C	T	8: 106,614,180 (GRCm39)	R19C	probably benign	Het
Fam90a1b	T	C	X: 93,400,191 (GRCm39)	N213S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Insm2	T	C	12: 55,646,799 (GRCm39)	I181T	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Muc4	T	A	16: 32,575,621 (GRCm39)		probably benign	Het
Nop14	T	C	5: 34,815,295 (GRCm39)	D85G	probably damaging	Het
Pramel27	T	G	4: 143,578,155 (GRCm39)	H87Q	possibly damaging	Het
Rad23b	C	T	4: 55,370,400 (GRCm39)	A142V	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Vmn1r29	T	C	6: 58,285,080 (GRCm39)	F267L	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zfp1	T	C	8: 112,396,975 (GRCm39)	F299S	probably damaging	Het

Other mutations in Tfe3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6079:Tfe3	UTSW	X	7,637,288 (GRCm39)	missense	probably damaging	0.98
U15987:Tfe3	UTSW	X	7,637,288 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTAAGTAAGCCGCAGAGCAG -3'
(R):5'- AAAGACAGAGAGCTCTTTTGGG -3'

Sequencing Primer
(F):5'- AGAGCAGGCGCACTTGC -3'
(R):5'- AGTCTCACTCTGTAGCCCAGGATAG -3'

Posted On

2017-07-14