Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Fn3krp'

214973

Institutional Source

Beutler Lab

Gene Symbol

Fn3krp

Ensembl Gene

ENSMUSG00000039253

Gene Name

fructosamine 3 kinase related protein

Synonyms

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121312227-121322114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121315803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000038061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038096]

AlphaFold

Q8K274

Predicted Effect

probably damaging
Transcript: ENSMUST00000038096
AA Change: T65A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:Fructosamin_kin	1	309	6e-81	PFAM
Pfam:APH	22	267	1.5e-12	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,613,338 (GRCm39)	S31P	probably damaging	Het
Abca12	G	T	1: 71,283,999 (GRCm39)	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,266,586 (GRCm39)	V135A	probably benign	Het
Actl11	T	G	9: 107,806,736 (GRCm39)	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,496,379 (GRCm39)		probably null	Het
B230104I21Rik	A	G	4: 154,425,694 (GRCm39)	I697T	probably damaging	Het
BC061237	G	A	14: 44,738,700 (GRCm39)	R33K	possibly damaging	Het
Brf1	C	A	12: 112,963,964 (GRCm39)	V5F	possibly damaging	Het
Chmp2a	C	T	7: 12,767,863 (GRCm39)	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,610,417 (GRCm39)	N607S	probably benign	Het
Ddhd2	G	A	8: 26,231,688 (GRCm39)	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,669,143 (GRCm39)	D1180Y	possibly damaging	Het
Dnaaf4	A	T	9: 72,867,909 (GRCm39)	I57L	probably damaging	Het
Dock5	A	T	14: 68,083,511 (GRCm39)	S133T	possibly damaging	Het
Efs	A	T	14: 55,154,620 (GRCm39)	C540S	possibly damaging	Het
Ehd4	C	T	2: 119,921,973 (GRCm39)	G428S	probably benign	Het
Eml1	C	T	12: 108,504,476 (GRCm39)	R812*	probably null	Het
Enpp1	C	T	10: 24,530,786 (GRCm39)	D557N	possibly damaging	Het
Galnt5	A	G	2: 57,888,615 (GRCm39)	R72G	probably benign	Het
Gfod1	C	T	13: 43,354,336 (GRCm39)	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,631,210 (GRCm39)		probably benign	Het
Gm5431	A	G	11: 48,780,082 (GRCm39)	F558S	probably damaging	Het
Got1	C	T	19: 43,504,119 (GRCm39)		probably null	Het
Gucy2g	C	T	19: 55,226,191 (GRCm39)	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,406,874 (GRCm39)	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,146,979 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,491,670 (GRCm39)	I339L	probably benign	Het
Kdm4c	C	T	4: 74,263,720 (GRCm39)	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474 (GRCm39)	I592V	probably benign	Het
Mfsd12	G	T	10: 81,197,921 (GRCm39)	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,768,437 (GRCm39)	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,664,414 (GRCm39)	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,458,040 (GRCm39)	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,144,846 (GRCm39)	G217V	probably damaging	Het
Neo1	T	C	9: 58,897,668 (GRCm39)	E96G	probably benign	Het
Nid2	T	A	14: 19,818,344 (GRCm39)	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,872,732 (GRCm39)	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nynrin	A	G	14: 56,101,049 (GRCm39)	T280A	probably benign	Het
Or1o2	A	G	17: 37,542,434 (GRCm39)	Y276H	probably damaging	Het
Or2b28	T	A	13: 21,531,116 (GRCm39)	I6N	probably benign	Het
Or2w2	A	G	13: 21,758,426 (GRCm39)	F67L	probably benign	Het
Or55b10	A	G	7: 102,143,266 (GRCm39)	S239P	possibly damaging	Het
Or5b109	T	C	19: 13,212,393 (GRCm39)	Y260H	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,230,766 (GRCm39)	V565A	probably benign	Het
Rbm6	T	G	9: 107,730,102 (GRCm39)	D182A	probably damaging	Het
Rhbg	A	G	3: 88,151,859 (GRCm39)	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,860,738 (GRCm39)	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,249,959 (GRCm39)	I108N	probably damaging	Het
Sema6b	A	T	17: 56,439,797 (GRCm39)	F15I	probably benign	Het
Sirpa	C	T	2: 129,458,296 (GRCm39)	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,184,430 (GRCm39)	I257T	probably benign	Het
Slc41a1	T	C	1: 131,768,938 (GRCm39)	I256T	probably damaging	Het
Smg6	A	G	11: 75,033,674 (GRCm39)	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,210,633 (GRCm39)	P744Q	probably damaging	Het
Sptbn5	T	C	2: 119,900,943 (GRCm39)	T213A	probably benign	Het
St18	A	G	1: 6,872,936 (GRCm39)	T224A	probably benign	Het
Stat3	T	C	11: 100,785,655 (GRCm39)	N465S	probably damaging	Het
Stmn2	T	A	3: 8,610,636 (GRCm39)	M40K	probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674 (GRCm38)	C133S	probably damaging	Het
Tmem25	C	T	9: 44,707,780 (GRCm39)	V172M	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trhde	T	A	10: 114,636,754 (GRCm39)	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,280,229 (GRCm39)	T912A	probably damaging	Het
Unc79	C	A	12: 103,135,951 (GRCm39)	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,594,823 (GRCm39)	S436R	probably damaging	Het
Zfp791	G	T	8: 85,837,312 (GRCm39)	T184K	probably benign	Het
Znrf3	A	G	11: 5,231,062 (GRCm39)	V817A	probably benign	Het

Other mutations in Fn3krp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Fn3krp	APN	11	121,312,380 (GRCm39)	missense	probably damaging	1.00
IGL01633:Fn3krp	APN	11	121,320,533 (GRCm39)	nonsense	probably null
IGL02123:Fn3krp	APN	11	121,320,270 (GRCm39)	missense	probably benign	0.00
IGL03189:Fn3krp	APN	11	121,320,456 (GRCm39)	missense	probably damaging	1.00
R0278:Fn3krp	UTSW	11	121,312,406 (GRCm39)	missense	probably damaging	1.00
R3744:Fn3krp	UTSW	11	121,317,531 (GRCm39)	critical splice donor site	probably null
R4471:Fn3krp	UTSW	11	121,317,499 (GRCm39)	missense	probably benign	0.01
R4850:Fn3krp	UTSW	11	121,315,879 (GRCm39)	missense	possibly damaging	0.56
R5027:Fn3krp	UTSW	11	121,320,274 (GRCm39)	missense	probably benign	0.01
R5162:Fn3krp	UTSW	11	121,320,410 (GRCm39)	missense	probably damaging	1.00
R5444:Fn3krp	UTSW	11	121,312,430 (GRCm39)	critical splice donor site	probably null
R6230:Fn3krp	UTSW	11	121,316,418 (GRCm39)	missense	probably damaging	1.00
R7183:Fn3krp	UTSW	11	121,312,431 (GRCm39)	critical splice donor site	probably null
R8802:Fn3krp	UTSW	11	121,315,813 (GRCm39)	missense	probably damaging	0.99
R9765:Fn3krp	UTSW	11	121,312,304 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TTCTGTCGAGTCCTCTGGCTAG -3'
(R):5'- GTGACGGACACTTTACACCAC -3'

Sequencing Primer
(F):5'- CGAGTCCTCTGGCTAGCATAAATG -3'
(R):5'- TTTACACCACACCTCAAAATCTTG -3'

Posted On

2014-07-14