Mutagenetix > Incidental Mutation

Incidental Mutation 'R9134:Tfec'

693830

Institutional Source

Beutler Lab

Gene Symbol

Tfec

Ensembl Gene

ENSMUSG00000029553

Gene Name

transcription factor EC

Synonyms

Tcfec, TFEC, bHLHe34

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16833372-16898440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16835326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 151 (T151S)

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: T151S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553
AA Change: T151S

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

silent
Transcript: ENSMUST00000202997

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (54/57)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m1	A	G	8: 72,993,913 (GRCm39)		probably benign	Het
Arhgdia	A	T	11: 120,470,392 (GRCm39)	I122N	probably damaging	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Atad5	G	A	11: 80,023,931 (GRCm39)	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,151,441 (GRCm39)	V54A	probably benign	Het
Cby3	A	C	11: 50,250,153 (GRCm39)	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,374,102 (GRCm39)	L374R	probably damaging	Het
Cd84	T	A	1: 171,679,413 (GRCm39)	N30K	probably damaging	Het
Cdk20	T	A	13: 64,580,906 (GRCm39)		probably null	Het
Chd9	A	G	8: 91,659,754 (GRCm39)	H238R	unknown	Het
Cplane1	T	C	15: 8,228,716 (GRCm39)	V929A	probably damaging	Het
Csl	T	A	10: 99,594,237 (GRCm39)	H276L	probably damaging	Het
Dchs1	A	G	7: 105,404,910 (GRCm39)	L2544P	probably damaging	Het
Dnah17	T	C	11: 117,978,972 (GRCm39)	T1807A	probably damaging	Het
Dph7	C	T	2: 24,861,720 (GRCm39)	H378Y	probably benign	Het
Enkur	T	C	2: 21,185,779 (GRCm39)	I249V	probably benign	Het
Fam117a	C	A	11: 95,271,745 (GRCm39)	S439*	probably null	Het
Fam184a	T	G	10: 53,573,344 (GRCm39)	K345N	probably damaging	Het
Fam228a	T	C	12: 4,765,686 (GRCm39)	R255G	probably benign	Het
Fpr-rs7	A	T	17: 20,334,325 (GRCm39)	M55K	probably damaging	Het
Frem2	A	G	3: 53,562,321 (GRCm39)	Y729H	probably damaging	Het
Herc2	A	G	7: 55,832,177 (GRCm39)	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,547,547 (GRCm39)	L145P	probably damaging	Het
Iars1	T	A	13: 49,855,323 (GRCm39)	V250E	probably benign	Het
Ide	G	T	19: 37,273,561 (GRCm39)		probably benign	Het
Ino80c	T	C	18: 24,254,765 (GRCm39)	S32G	probably benign	Het
Insr	G	A	8: 3,308,413 (GRCm39)	R208W	probably damaging	Het
Ints1	G	A	5: 139,743,351 (GRCm39)	R1674W	probably benign	Het
Itsn1	G	A	16: 91,666,514 (GRCm39)	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrc41	C	A	4: 115,945,782 (GRCm39)	Q166K	possibly damaging	Het
Lrriq3	T	C	3: 154,820,183 (GRCm39)		probably null	Het
Mndal	T	C	1: 173,699,096 (GRCm39)	I190V	unknown	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 30,896,637 (GRCm39)		probably benign	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or14c39	C	A	7: 86,344,588 (GRCm39)	S308*	probably null	Het
Or3a1	A	G	11: 74,225,670 (GRCm39)	I129T	probably damaging	Het
Or5b114-ps1	G	T	19: 13,352,613 (GRCm39)	A96S	probably damaging	Het
Pcmt1	A	T	10: 7,520,207 (GRCm39)		probably benign	Het
Pde4c	G	T	8: 71,201,160 (GRCm39)	V493F	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pira13	T	C	7: 3,825,182 (GRCm39)	S487G		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prr23a1	T	C	9: 98,724,935 (GRCm39)	L99P		Het
Rex2	C	G	4: 147,142,643 (GRCm39)	T377S	probably benign	Het
Robo2	A	G	16: 73,703,738 (GRCm39)	F50L		Het
Srgap1	A	G	10: 121,883,127 (GRCm39)		probably benign	Het
Syt3	A	G	7: 44,042,791 (GRCm39)	N358D	possibly damaging	Het
Tll1	A	T	8: 64,469,201 (GRCm39)	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,074,321 (GRCm39)	V338A	probably benign	Het
Trappc6b	T	A	12: 59,097,160 (GRCm39)	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,905,109 (GRCm39)	C43*	probably null	Het
Ubr4	T	A	4: 139,127,755 (GRCm39)		probably null	Het
Vmn1r2	T	A	4: 3,172,884 (GRCm39)	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,832,093 (GRCm39)	L232S	probably damaging	Het
Vps26b	T	C	9: 26,921,225 (GRCm39)	T325A	probably benign	Het
Vwa3a	T	C	7: 120,377,659 (GRCm39)	V438A	probably damaging	Het
Wdcp	C	A	12: 4,901,533 (GRCm39)	S463*	probably null	Het
Xkr4	C	T	1: 3,740,860 (GRCm39)	G238S	probably benign	Het
Zranb1	A	G	7: 132,551,886 (GRCm39)	N179S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTGAGTAGCTCTCTGTGCAG -3'
(R):5'- GTCATCAGTAATGCACATTTCCTAG -3'

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

Posted On

2022-01-20