Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01149:Tkfc'

53306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tkfc

Ensembl Gene

ENSMUSG00000034371

Gene Name

triokinase, FMN cyclase

Synonyms

Dak

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL01149

Quality Score

Status

Chromosome

Chromosomal Location

10565155-10583018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10578015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 38 (L38P)

Ref Sequence

ENSEMBL: ENSMUSP00000044556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025649] [ENSMUST00000037678]

AlphaFold

Q8VC30

Predicted Effect

probably benign
Transcript: ENSMUST00000025649

SMART Domains

Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740

Domain	Start	End	E-Value	Type
Pfam:MMS1_N	75	543	1.9e-122	PFAM
low complexity region	755	775	N/A	INTRINSIC
Pfam:CPSF_A	788	1099	1e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000037678
AA Change: L38P

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

SMART Domains

Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
AA Change: L38P

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4632415L05Rik	A	G	3: 19,949,276 (GRCm39)		noncoding transcript	Het
Aadacl4fm4	T	C	4: 144,400,349 (GRCm39)	D143G	probably benign	Het
Adcy1	A	C	11: 7,087,385 (GRCm39)	N420H	probably damaging	Het
Avp	T	C	2: 130,422,593 (GRCm39)		probably benign	Het
B3galnt2	A	T	13: 14,155,270 (GRCm39)	I216F	probably benign	Het
Cdc42bpa	T	C	1: 179,902,137 (GRCm39)	S465P	probably damaging	Het
Cdc42bpg	T	A	19: 6,362,235 (GRCm39)		probably benign	Het
Cdcp2	T	C	4: 106,964,308 (GRCm39)	F386S	probably benign	Het
Cdh4	A	G	2: 179,515,937 (GRCm39)	T372A	probably damaging	Het
Clspn	T	G	4: 126,466,971 (GRCm39)	M612R	probably damaging	Het
Dll4	T	C	2: 119,161,590 (GRCm39)	C391R	probably damaging	Het
Dll4	T	C	2: 119,163,226 (GRCm39)	Y616H	probably damaging	Het
Exoc1	A	G	5: 76,690,091 (GRCm39)		probably benign	Het
F830045P16Rik	A	G	2: 129,302,232 (GRCm39)		probably null	Het
Fhod1	A	G	8: 106,074,439 (GRCm39)		probably benign	Het
Fign	T	C	2: 63,810,104 (GRCm39)	R389G	possibly damaging	Het
Gm13941	T	A	2: 110,931,482 (GRCm39)	E50V	unknown	Het
Kit	C	T	5: 75,771,536 (GRCm39)	T231M	probably damaging	Het
Neu3	T	C	7: 99,463,087 (GRCm39)	H212R	probably benign	Het
Nup214	G	T	2: 31,924,712 (GRCm39)	S1747I	probably damaging	Het
Or4f4b	T	C	2: 111,314,446 (GRCm39)	S224P	probably damaging	Het
Or4q3	G	T	14: 50,583,071 (GRCm39)	A276E	probably damaging	Het
Or8b12i	G	T	9: 20,082,826 (GRCm39)	L14I	probably damaging	Het
Secisbp2	T	C	13: 51,830,491 (GRCm39)		probably null	Het
Slc26a10	G	A	10: 127,010,046 (GRCm39)		probably benign	Het
Slc7a6	T	C	8: 106,906,232 (GRCm39)	S155P	probably damaging	Het
Slf1	A	T	13: 77,260,767 (GRCm39)	I173N	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tubgcp4	A	G	2: 121,015,264 (GRCm39)	D324G	probably null	Het
Zfyve16	T	C	13: 92,644,791 (GRCm39)	H1137R	probably damaging	Het

Other mutations in Tkfc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Tkfc	APN	19	10,571,892 (GRCm39)	missense	probably benign	0.28
IGL02726:Tkfc	APN	19	10,573,576 (GRCm39)	missense	possibly damaging	0.67
IGL03069:Tkfc	APN	19	10,576,518 (GRCm39)	missense	probably benign
R1367:Tkfc	UTSW	19	10,570,838 (GRCm39)	missense	probably benign	0.19
R1476:Tkfc	UTSW	19	10,572,690 (GRCm39)	missense	probably null	0.55
R2081:Tkfc	UTSW	19	10,574,742 (GRCm39)	missense	probably damaging	1.00
R2130:Tkfc	UTSW	19	10,573,405 (GRCm39)	missense	probably damaging	0.97
R2151:Tkfc	UTSW	19	10,576,421 (GRCm39)	missense	probably damaging	1.00
R2443:Tkfc	UTSW	19	10,571,902 (GRCm39)	missense	probably damaging	0.97
R3104:Tkfc	UTSW	19	10,574,357 (GRCm39)	nonsense	probably null
R3105:Tkfc	UTSW	19	10,574,357 (GRCm39)	nonsense	probably null
R3106:Tkfc	UTSW	19	10,574,357 (GRCm39)	nonsense	probably null
R5027:Tkfc	UTSW	19	10,570,023 (GRCm39)	splice site	probably null
R5601:Tkfc	UTSW	19	10,571,927 (GRCm39)	missense	probably benign
R5637:Tkfc	UTSW	19	10,571,897 (GRCm39)	missense	probably benign	0.00
R5933:Tkfc	UTSW	19	10,574,711 (GRCm39)	missense	probably benign	0.17
R6792:Tkfc	UTSW	19	10,571,888 (GRCm39)	missense	probably benign
R6845:Tkfc	UTSW	19	10,576,696 (GRCm39)	missense	probably damaging	0.99
R6909:Tkfc	UTSW	19	10,573,630 (GRCm39)	missense	probably benign	0.06
R7007:Tkfc	UTSW	19	10,573,727 (GRCm39)	missense	probably benign
R7883:Tkfc	UTSW	19	10,572,394 (GRCm39)	splice site	probably null
R8962:Tkfc	UTSW	19	10,570,700 (GRCm39)	missense	probably damaging	1.00
R9039:Tkfc	UTSW	19	10,573,612 (GRCm39)	missense	probably damaging	1.00
R9254:Tkfc	UTSW	19	10,574,712 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21