Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Fn3k'

234998

Institutional Source

Beutler Lab

Gene Symbol

Fn3k

Ensembl Gene

ENSMUSG00000025175

Gene Name

fructosamine 3 kinase

Synonyms

2310074G21Rik

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121325779-121341316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121339712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 158 (N158I)

Ref Sequence

ENSEMBL: ENSMUSP00000026175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026175] [ENSMUST00000103013]

AlphaFold

Q9ER35

Predicted Effect

probably damaging
Transcript: ENSMUST00000026175
AA Change: N158I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026175
Gene: ENSMUSG00000025175
AA Change: N158I

Domain	Start	End	E-Value	Type
Pfam:Fructosamin_kin	1	309	2.3e-77	PFAM
Pfam:APH	20	277	4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103013

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
SCOP:d1b3ua_	357	742	4e-20	SMART
Pfam:TFCD_C	900	1090	1.4e-74	PFAM
low complexity region	1113	1120	N/A	INTRINSIC

Meta Mutation Damage Score

0.9534

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele grow and reproduce normally and appear healthy while cellular levels of glycated proteins and free fructoselysine are elevated in several tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly damaging	Het

Other mutations in Fn3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02037:Fn3k	APN	11	121,325,909 (GRCm39)	missense	probably benign	0.12
IGL02379:Fn3k	APN	11	121,325,950 (GRCm39)	missense	probably benign	0.12
R5422:Fn3k	UTSW	11	121,340,948 (GRCm39)	missense	probably damaging	0.99
R6254:Fn3k	UTSW	11	121,325,894 (GRCm39)	missense	probably damaging	0.97
R7262:Fn3k	UTSW	11	121,339,741 (GRCm39)	missense	probably damaging	1.00
R8196:Fn3k	UTSW	11	121,341,222 (GRCm39)	missense	probably damaging	1.00
R8262:Fn3k	UTSW	11	121,339,744 (GRCm39)	missense	probably benign	0.42
R8270:Fn3k	UTSW	11	121,330,137 (GRCm39)	missense	probably benign	0.03
R8547:Fn3k	UTSW	11	121,340,987 (GRCm39)	missense	probably damaging	1.00
R9725:Fn3k	UTSW	11	121,341,191 (GRCm39)	missense	probably damaging	1.00
Z1177:Fn3k	UTSW	11	121,331,100 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGTTCTGCCACCTTAATATTTGT -3'
(R):5'- ATGGGCTCCTAAGGGACAGC -3'

Sequencing Primer
(F):5'- TCTGACTGTGTAAGCAAGCC -3'
(R):5'- TAAGGGACAGCCTCTTCCCAG -3'

Posted On

2014-10-01