Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Fn3krp'

329452

Institutional Source

Beutler Lab

Gene Symbol

Fn3krp

Ensembl Gene

ENSMUSG00000039253

Gene Name

fructosamine 3 kinase related protein

Synonyms

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

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

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121312227-121322114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121317499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 146 (D146E)

Ref Sequence

ENSEMBL: ENSMUSP00000038061 (fasta)

Gene Model

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

AlphaFold

Q8K274

Predicted Effect

probably benign
Transcript: ENSMUST00000038096
AA Change: D146E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: D146E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,367,040 (GRCm39)	K49M	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,631 (GRCm39)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Lman1	A	T	18: 66,124,797 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	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
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
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
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'- TATGGGTGCAAGCATTAGGG -3'
(R):5'- AGACCAGCATCCTAACTTGC -3'

Sequencing Primer
(F):5'- CATTAGGGGGTAAGGGCATATTG -3'
(R):5'- AGCATCCTAACTTGCTGTTTCTTCTG -3'

Posted On

2015-07-21