Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121421401-121431288 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121424977 bp

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]

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: 121,636,379	S31P	probably damaging	Het
Abca12	G	T	1: 71,244,840	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,278,154	V135A	probably benign	Het
Actl11	T	G	9: 107,929,537	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,598,498		probably null	Het
B230104I21Rik	A	G	4: 154,341,237	I697T	probably damaging	Het
BC061237	G	A	14: 44,501,243	R33K	possibly damaging	Het
Brf1	C	A	12: 113,000,344	V5F	possibly damaging	Het
Chmp2a	C	T	7: 13,033,936	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,453,074	N607S	probably benign	Het
Ddhd2	G	A	8: 25,741,661	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,702,884	D1180Y	possibly damaging	Het
Dock5	A	T	14: 67,846,062	S133T	possibly damaging	Het
Dyx1c1	A	T	9: 72,960,627	I57L	probably damaging	Het
Efs	A	T	14: 54,917,163	C540S	possibly damaging	Het
Ehd4	C	T	2: 120,091,492	G428S	probably benign	Het
Eml1	C	T	12: 108,538,217	R812*	probably null	Het
Enpp1	C	T	10: 24,654,888	D557N	possibly damaging	Het
Galnt5	A	G	2: 57,998,603	R72G	probably benign	Het
Gfod1	C	T	13: 43,200,860	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,803,645		probably benign	Het
Gm5431	A	G	11: 48,889,255	F558S	probably damaging	Het
Got1	C	T	19: 43,515,680		probably null	Het
Gucy2g	C	T	19: 55,237,759	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,099,874	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,169,999		probably benign	Het
Iqub	T	A	6: 24,491,671	I339L	probably benign	Het
Kdm4c	C	T	4: 74,345,483	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474	I592V	probably benign	Het
Mfsd12	G	T	10: 81,362,087	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,892,441	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,426,957	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,567,214	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,260,646	G217V	probably damaging	Het
Neo1	T	C	9: 58,990,385	E96G	probably benign	Het
Nid2	T	A	14: 19,768,276	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,944,994	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nynrin	A	G	14: 55,863,592	T280A	probably benign	Het
Olfr1364	A	G	13: 21,574,256	F67L	probably benign	Het
Olfr1367	T	A	13: 21,346,946	I6N	probably benign	Het
Olfr1463	T	C	19: 13,235,029	Y260H	probably damaging	Het
Olfr545	A	G	7: 102,494,059	S239P	possibly damaging	Het
Olfr97	A	G	17: 37,231,543	Y276H	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,254,122	V565A	probably benign	Het
Rbm6	T	G	9: 107,852,903	D182A	probably damaging	Het
Rhbg	A	G	3: 88,244,552	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,806,589	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,431,209	I108N	probably damaging	Het
Sema6b	A	T	17: 56,132,797	F15I	probably benign	Het
Sirpa	C	T	2: 129,616,376	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,207,066	I257T	probably benign	Het
Slc41a1	T	C	1: 131,841,200	I256T	probably damaging	Het
Smg6	A	G	11: 75,142,848	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,222,195	P744Q	probably damaging	Het
Sptbn5	T	C	2: 120,070,462	T213A	probably benign	Het
St18	A	G	1: 6,802,712	T224A	probably benign	Het
Stat3	T	C	11: 100,894,829	N465S	probably damaging	Het
Stmn2	T	A	3: 8,545,576	M40K	probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674	C133S	probably damaging	Het
Tmem25	C	T	9: 44,796,483	V172M	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trhde	T	A	10: 114,800,849	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,452,664	T912A	probably damaging	Het
Unc79	C	A	12: 103,169,692	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,375,842	S436R	probably damaging	Het
Zfp791	G	T	8: 85,110,683	T184K	probably benign	Het
Znrf3	A	G	11: 5,281,062	V817A	probably benign	Het

Other mutations in Fn3krp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Fn3krp	APN	11	121421554	missense	probably damaging	1.00
IGL01633:Fn3krp	APN	11	121429707	nonsense	probably null
IGL02123:Fn3krp	APN	11	121429444	missense	probably benign	0.00
IGL03189:Fn3krp	APN	11	121429630	missense	probably damaging	1.00
R0278:Fn3krp	UTSW	11	121421580	missense	probably damaging	1.00
R3744:Fn3krp	UTSW	11	121426705	critical splice donor site	probably null
R4471:Fn3krp	UTSW	11	121426673	missense	probably benign	0.01
R4850:Fn3krp	UTSW	11	121425053	missense	possibly damaging	0.56
R5027:Fn3krp	UTSW	11	121429448	missense	probably benign	0.01
R5162:Fn3krp	UTSW	11	121429584	missense	probably damaging	1.00
R5444:Fn3krp	UTSW	11	121421604	critical splice donor site	probably null
R6230:Fn3krp	UTSW	11	121425592	missense	probably damaging	1.00
R7183:Fn3krp	UTSW	11	121421605	critical splice donor site	probably null

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