Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Tfec'

610585

Institutional Source

Beutler Lab

Gene Symbol

Tfec

Ensembl Gene

ENSMUSG00000029553

Gene Name

transcription factor EC

Synonyms

Tcfec, TFEC, bHLHe34

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16833372-16898440 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 16840467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031533 (fasta)

Gene Model

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

AlphaFold

Q9WTW4

Predicted Effect

probably null
Transcript: ENSMUST00000031533

SMART Domains

Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553

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: ENSMUST00000202997

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Acvr1	C	T	2: 58,364,230 (GRCm39)	V200I	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bcas3	G	A	11: 85,261,954 (GRCm39)	G96S	probably damaging	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lamp3	T	A	16: 19,474,247 (GRCm39)	T376S	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854 (GRCm39)	M224K	probably benign	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttc17	T	A	2: 94,209,166 (GRCm39)	N96I	probably damaging	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	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
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'- GAAGGATGAGTCTTGGAAACACCTTG -3'
(R):5'- AGGCTTCCTTTTGACTAACAGG -3'

Sequencing Primer
(F):5'- TGGAAACACCTTGATGCCTG -3'
(R):5'- AGCTGACCAACAGTGAAC -3'

Posted On

2019-12-20