Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Tfec'

644665

Institutional Source

Beutler Lab

Gene Symbol

Tfec

Ensembl Gene

ENSMUSG00000029553

Gene Name

transcription factor EC

Synonyms

Tcfec, TFEC, bHLHe34

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16833372-16898440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16845422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000031533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031533] [ENSMUST00000202997]

AlphaFold

Q9WTW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031533
AA Change: N79S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553
AA Change: N79S

Domain	Start	End	E-Value	Type
HLH	116	169	1.8e-16	SMART
Pfam:DUF3371	196	314	4e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202997
AA Change: N79S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Tfec

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Tfec	APN	6	16,845,465 (GRCm39)	missense	probably damaging	0.98
IGL02655:Tfec	APN	6	16,834,308 (GRCm39)	missense	possibly damaging	0.60
R1581:Tfec	UTSW	6	16,844,243 (GRCm39)	missense	probably damaging	1.00
R1824:Tfec	UTSW	6	16,840,467 (GRCm39)	critical splice donor site	probably null
R1897:Tfec	UTSW	6	16,835,307 (GRCm39)	missense	probably damaging	1.00
R2881:Tfec	UTSW	6	16,835,232 (GRCm39)	missense	probably benign
R3932:Tfec	UTSW	6	16,845,458 (GRCm39)	missense	probably damaging	1.00
R4581:Tfec	UTSW	6	16,834,124 (GRCm39)	missense	probably damaging	1.00
R4627:Tfec	UTSW	6	16,840,478 (GRCm39)	missense	probably damaging	0.99
R5568:Tfec	UTSW	6	16,867,592 (GRCm39)	missense	possibly damaging	0.69
R5590:Tfec	UTSW	6	16,834,199 (GRCm39)	missense	probably benign	0.09
R6723:Tfec	UTSW	6	16,835,301 (GRCm39)	missense	probably damaging	1.00
R7211:Tfec	UTSW	6	16,867,464 (GRCm39)	missense	probably damaging	1.00
R7510:Tfec	UTSW	6	16,835,232 (GRCm39)	missense	probably benign
R7681:Tfec	UTSW	6	16,834,235 (GRCm39)	missense	probably benign	0.30
R7912:Tfec	UTSW	6	16,840,467 (GRCm39)	critical splice donor site	probably null
R8352:Tfec	UTSW	6	16,844,202 (GRCm39)	missense	probably damaging	1.00
R8452:Tfec	UTSW	6	16,844,202 (GRCm39)	missense	probably damaging	1.00
R9134:Tfec	UTSW	6	16,835,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAATGCTGCACTTACTCTCGG -3'
(R):5'- CATGGTCTCTATTGTCACGATTG -3'

Sequencing Primer
(F):5'- CCCTTGTAGCCATTGTAATCACGG -3'
(R):5'- GTCACGATTGTTCCATAGTGAC -3'

Posted On

2020-09-02