Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Fn3krp'

93629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fn3krp

Ensembl Gene

ENSMUSG00000039253

Gene Name

fructosamine 3 kinase related protein

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

121312227-121322114 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 121320533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 293 (G293*)

Ref Sequence

ENSEMBL: ENSMUSP00000038061 (fasta)

Gene Model

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

AlphaFold

Q8K274

Predicted Effect

probably null
Transcript: ENSMUST00000038096
AA Change: G293*

SMART Domains

Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: G293*

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,334,406 (GRCm39)	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,616,327 (GRCm39)	W923*	probably null	Het
Abca8b	A	G	11: 109,827,580 (GRCm39)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,498,163 (GRCm39)	F729S	probably damaging	Het
Acacb	T	C	5: 114,356,919 (GRCm39)		probably benign	Het
Aldh3a2	A	G	11: 61,139,731 (GRCm39)	L467P	probably benign	Het
Appl1	T	C	14: 26,684,795 (GRCm39)	T85A	probably damaging	Het
Aspm	T	A	1: 139,408,574 (GRCm39)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,159,290 (GRCm39)	V23I	probably benign	Het
C2cd2	T	A	16: 97,676,323 (GRCm39)		probably benign	Het
Carmil3	A	T	14: 55,731,684 (GRCm39)	H170L	possibly damaging	Het
Ccdc141	C	T	2: 76,919,593 (GRCm39)	V305I	probably benign	Het
Ccdc174	G	A	6: 91,857,343 (GRCm39)		probably null	Het
Cep126	T	G	9: 8,103,320 (GRCm39)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,655,859 (GRCm39)	I188T	probably benign	Het
Depdc5	T	C	5: 33,081,544 (GRCm39)	S569P	probably damaging	Het
Drc1	G	A	5: 30,503,007 (GRCm39)	E177K	probably damaging	Het
Duox1	A	G	2: 122,164,279 (GRCm39)	E913G	probably benign	Het
Fbxw9	T	C	8: 85,791,055 (GRCm39)	S241P	probably damaging	Het
Fez2	C	A	17: 78,712,147 (GRCm39)		probably benign	Het
Fga	G	T	3: 82,937,606 (GRCm39)	R161L	possibly damaging	Het
Gfra1	C	T	19: 58,255,479 (GRCm39)	E318K	probably benign	Het
Gli3	C	T	13: 15,823,219 (GRCm39)	P314S	probably damaging	Het
Gm5114	A	T	7: 39,057,490 (GRCm39)	S710T	probably benign	Het
Gpr141	T	C	13: 19,936,769 (GRCm39)	D2G	probably benign	Het
Inppl1	G	A	7: 101,483,041 (GRCm39)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,566,657 (GRCm39)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,824,615 (GRCm39)	R304Q	probably benign	Het
Macf1	T	C	4: 123,395,964 (GRCm39)	D788G	probably damaging	Het
Nbas	T	A	12: 13,533,898 (GRCm39)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,382,161 (GRCm39)	F73L	probably damaging	Het
Osmr	A	T	15: 6,854,085 (GRCm39)	I541N	probably damaging	Het
Phrf1	A	G	7: 140,840,413 (GRCm39)	I1203V	probably benign	Het
Pram1	C	A	17: 33,861,109 (GRCm39)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,379,444 (GRCm39)	Y415H	probably benign	Het
Prss27	A	T	17: 24,264,650 (GRCm39)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,510,989 (GRCm39)	S287G	probably benign	Het
Ptprq	T	C	10: 107,535,584 (GRCm39)		probably benign	Het
Sars2	A	G	7: 28,446,974 (GRCm39)	K218E	probably benign	Het
Senp6	G	T	9: 79,999,676 (GRCm39)	S31I	probably damaging	Het
Shld2	G	T	14: 33,971,136 (GRCm39)	T31K	probably damaging	Het
Skint6	C	A	4: 113,095,246 (GRCm39)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,685,128 (GRCm39)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,220,358 (GRCm39)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,959,125 (GRCm39)	N103D	probably benign	Het
Tmc5	A	G	7: 118,222,809 (GRCm39)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,361,950 (GRCm39)	N545K	probably benign	Het
Trub1	A	G	19: 57,441,616 (GRCm39)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,302,923 (GRCm39)	Y299N	probably damaging	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
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
R1927:Fn3krp	UTSW	11	121,315,803 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-12-09