Mutagenetix > Incidental Mutation

Incidental Mutation 'R1367:Tkfc'

156099

Institutional Source

Beutler Lab

Gene Symbol

Tkfc

Ensembl Gene

ENSMUSG00000034371

Gene Name

triokinase, FMN cyclase

Synonyms

Dak

MMRRC Submission

039432-MU

Accession Numbers

Essential gene?

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

Stock #

R1367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10565155-10583018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10570838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 481 (S481P)

Ref Sequence

ENSEMBL: ENSMUSP00000044556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037678] [ENSMUST00000168445]

AlphaFold

Q8VC30

Predicted Effect

probably benign
Transcript: ENSMUST00000037678
AA Change: S481P

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
AA Change: S481P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168445

SMART Domains

Protein: ENSMUSP00000130680
Gene: ENSMUSG00000034445

Domain	Start	End	E-Value	Type
B561	46	175	1.47e-40	SMART
low complexity region	205	219	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 86.6%

Validation Efficiency

98% (48/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,261,250 (GRCm39)	V676A	probably damaging	Het
Acvr1b	T	C	15: 101,091,819 (GRCm39)	L33P	possibly damaging	Het
Adamts12	T	G	15: 11,256,980 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,601,819 (GRCm39)		probably benign	Het
Arhgef10	T	A	8: 14,990,225 (GRCm39)	D233E	probably damaging	Het
Cd209e	T	C	8: 3,899,084 (GRCm39)	*209W	probably null	Het
Cebpz	A	G	17: 79,230,742 (GRCm39)	V825A	probably benign	Het
Cep170	A	G	1: 176,563,290 (GRCm39)	F1575L	probably damaging	Het
Exoc2	A	T	13: 31,066,256 (GRCm39)	Y473*	probably null	Het
F3	A	G	3: 121,523,023 (GRCm39)	T78A	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Gga2	G	A	7: 121,598,138 (GRCm39)	R319*	probably null	Het
Gid8	A	G	2: 180,355,025 (GRCm39)	I10M	probably benign	Het
Glrb	A	G	3: 80,769,311 (GRCm39)	W139R	probably damaging	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Hectd3	G	T	4: 116,854,367 (GRCm39)	V310L	probably null	Het
Insyn1	G	T	9: 58,406,263 (GRCm39)	D58Y	probably damaging	Het
Kif17	C	A	4: 138,005,305 (GRCm39)	S290*	probably null	Het
Kif26b	A	G	1: 178,744,028 (GRCm39)	N1375D	probably damaging	Het
Lgr4	C	G	2: 109,821,480 (GRCm39)	P121A	probably damaging	Het
Ly75	A	G	2: 60,124,102 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nek3	T	C	8: 22,650,377 (GRCm39)		probably benign	Het
Nin	A	T	12: 70,090,703 (GRCm39)	L904Q	probably damaging	Het
Nlrp14	A	G	7: 106,782,018 (GRCm39)	D405G	probably benign	Het
Nuak1	C	T	10: 84,228,192 (GRCm39)		probably benign	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Plcg2	T	A	8: 118,341,977 (GRCm39)	W1113R	probably damaging	Het
Pms2	G	A	5: 143,862,731 (GRCm39)	V613M	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Pxk	T	G	14: 8,150,915 (GRCm38)		probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Rictor	T	C	15: 6,820,119 (GRCm39)		probably benign	Het
Slc41a1	A	G	1: 131,771,746 (GRCm39)	T387A	probably benign	Het
Slc44a2	T	C	9: 21,254,322 (GRCm39)	V228A	probably benign	Het
Slpi	A	G	2: 164,196,787 (GRCm39)		probably benign	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Tns3	T	C	11: 8,398,704 (GRCm39)	H1216R	probably benign	Het
Ugt2b38	A	T	5: 87,571,973 (GRCm39)	S20T	probably benign	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Usp48	T	A	4: 137,371,774 (GRCm39)	S967T	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zdhhc23	A	G	16: 43,794,513 (GRCm39)	S54P	probably benign	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
IGL01149:Tkfc	APN	19	10,578,015 (GRCm39)	missense	probably damaging	1.00
IGL02726:Tkfc	APN	19	10,573,576 (GRCm39)	missense	possibly damaging	0.67
IGL03069:Tkfc	APN	19	10,576,518 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GAAAGGGGAACCTACCATTGTCCTG -3'
(R):5'- TGAAAGGCCGCCTGTCTCTACTTG -3'

Sequencing Primer
(F):5'- CTGTCTCCTGGTGCAGC -3'
(R):5'- TACTTGCAGCCATTCAGGG -3'

Posted On

2014-02-11