Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03069:Tkfc'

409837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tkfc

Ensembl Gene

ENSMUSG00000034371

Gene Name

triokinase, FMN cyclase

Synonyms

Dak

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

10592200-10604258 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10599154 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 122 (M122L)

Ref Sequence

ENSEMBL: ENSMUSP00000044556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037678]

Predicted Effect

probably benign
Transcript: ENSMUST00000037678
AA Change: M122L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
AA Change: M122L

Domain	Start	End	E-Value	Type
Pfam:Dak1	19	335	1.9e-112	PFAM
low complexity region	352	366	N/A	INTRINSIC
Dak2	398	571	1.47e-58	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,557,704		probably null	Het
Acpp	T	C	9: 104,320,005	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,755,786	K42*	probably null	Het
Arsg	A	T	11: 109,563,256	K429N	probably damaging	Het
Bsn	G	A	9: 108,114,263	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,583	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,228,901	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,714,936		probably benign	Het
Cfh	C	A	1: 140,099,055		probably benign	Het
Cyp2c69	C	T	19: 39,881,093	G161S	probably benign	Het
Dennd4c	C	A	4: 86,774,437	Y61*	probably null	Het
Diaph3	A	G	14: 86,772,119	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,355,723		probably null	Het
Dtd1	T	A	2: 144,747,061		probably benign	Het
Dtl	C	A	1: 191,556,896		probably benign	Het
Exoc3l4	A	G	12: 111,424,023	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,569,028	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,796,271		probably benign	Het
Krba1	A	G	6: 48,414,549	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,692,399	V433I	probably benign	Het
Lamc1	A	T	1: 153,239,381	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,840,918	I213L	probably benign	Het
Lysmd1	A	G	3: 95,137,634	I64V	probably damaging	Het
Mfsd4b4	A	C	10: 39,892,315	C261G	probably benign	Het
Mrgprb3	T	A	7: 48,643,450	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,793,205	Y137*	probably null	Het
Ofcc1	A	T	13: 40,072,664	H797Q	probably benign	Het
Olfr1176	C	T	2: 88,340,299		probably null	Het
Olfr935	A	T	9: 38,995,432	M1K	probably null	Het
Omd	A	T	13: 49,592,394		probably benign	Het
Polr3a	T	A	14: 24,461,740	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,575,431	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,789,963	G771D	probably benign	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Snx1	T	A	9: 66,094,624	I306F	probably benign	Het
Snx31	T	A	15: 36,525,603	R317*	probably null	Het
Sorl1	T	C	9: 41,991,426	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,099		probably benign	Het
Sssca1	G	T	19: 5,730,422	L183I	possibly damaging	Het
Stambp	A	G	6: 83,561,932	F162S	probably damaging	Het
Tnni3k	T	A	3: 154,941,605		probably null	Het
Trim56	T	C	5: 137,113,762	Q300R	probably damaging	Het
Ttc24	T	A	3: 88,070,101	T113S	probably benign	Het
Xirp2	A	T	2: 67,509,532	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,206,237		probably benign	Het
Zfp202	T	C	9: 40,211,399	S486P	probably damaging	Het
Zfp407	A	G	18: 84,350,975	S1676P	probably damaging	Het

Other mutations in Tkfc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Tkfc	APN	19	10594528	missense	probably benign	0.28
IGL01149:Tkfc	APN	19	10600651	missense	probably damaging	1.00
IGL02726:Tkfc	APN	19	10596212	missense	possibly damaging	0.67
R1367:Tkfc	UTSW	19	10593474	missense	probably benign	0.19
R1476:Tkfc	UTSW	19	10595326	missense	probably null	0.55
R2081:Tkfc	UTSW	19	10597378	missense	probably damaging	1.00
R2130:Tkfc	UTSW	19	10596041	missense	probably damaging	0.97
R2151:Tkfc	UTSW	19	10599057	missense	probably damaging	1.00
R2443:Tkfc	UTSW	19	10594538	missense	probably damaging	0.97
R3104:Tkfc	UTSW	19	10596993	nonsense	probably null
R3105:Tkfc	UTSW	19	10596993	nonsense	probably null
R3106:Tkfc	UTSW	19	10596993	nonsense	probably null
R5027:Tkfc	UTSW	19	10592659	splice site	probably null
R5601:Tkfc	UTSW	19	10594563	missense	probably benign
R5637:Tkfc	UTSW	19	10594533	missense	probably benign	0.00
R5933:Tkfc	UTSW	19	10597347	missense	probably benign	0.17
R6792:Tkfc	UTSW	19	10594524	missense	probably benign
R6845:Tkfc	UTSW	19	10599332	missense	probably damaging	0.99
R6909:Tkfc	UTSW	19	10596266	missense	probably benign	0.06
R7007:Tkfc	UTSW	19	10596363	missense	probably benign
R7883:Tkfc	UTSW	19	10595030	splice site	probably null

Posted On

2016-08-02