Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Tfec'

529685

Institutional Source

Beutler Lab

Gene Symbol

Tfec

Ensembl Gene

ENSMUSG00000029553

Gene Name

transcription factor EC

Synonyms

Tcfec, TFEC, bHLHe34

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16833372-16898440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16835301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 159 (Y159C)

Ref Sequence

ENSEMBL: ENSMUSP00000031533 (fasta)

Gene Model

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

AlphaFold

Q9WTW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031533
AA Change: Y159C

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

SMART Domains

Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553
AA Change: Y159C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201406

Predicted Effect

probably benign
Transcript: ENSMUST00000202997

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dhdds	T	C	4: 133,721,576 (GRCm39)	T74A	probably damaging	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4d11	A	G	19: 12,013,639 (GRCm39)	S156P	probably damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,256,638 (GRCm39)	I1536N	probably benign	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	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
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
R8337:Tfec	UTSW	6	16,845,422 (GRCm39)	missense	possibly damaging	0.82
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'- ACCGATTTAAATCATCTTGGCC -3'
(R):5'- GTCATCAGTAATGCACATTTCCTAG -3'

Sequencing Primer
(F):5'- CAATTCAGAATCTTCTAAGCGAGAG -3'
(R):5'- GCGTTTAGCTCTCCCACAAAAAGTC -3'

Posted On

2018-08-01