Incidental Mutation 'R3744:Fn3krp'
| ID |
271132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fn3krp
|
| Ensembl Gene |
ENSMUSG00000039253 |
| Gene Name |
fructosamine 3 kinase related protein |
| Synonyms |
|
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121312227-121322114 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 121317531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038096]
[ENSMUST00000038096]
[ENSMUST00000038096]
[ENSMUST00000038096]
|
| AlphaFold |
Q8K274 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038096
|
| SMART Domains |
Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fructosamin_kin
|
1 |
309 |
6e-81 |
PFAM |
|
Pfam:APH
|
22 |
267 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000038096
|
| SMART Domains |
Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fructosamin_kin
|
1 |
309 |
6e-81 |
PFAM |
|
Pfam:APH
|
22 |
267 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000038096
|
| SMART Domains |
Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fructosamin_kin
|
1 |
309 |
6e-81 |
PFAM |
|
Pfam:APH
|
22 |
267 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000038096
|
| SMART Domains |
Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
| 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 |
0.9502 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
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 |
|
R1927:Fn3krp
|
UTSW |
11 |
121,315,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACAACCCTGAGCTGCAAGAG -3'
(R):5'- CAGATTTTAACCCCTCCTTGAAGAC -3'
Sequencing Primer
(F):5'- TGCAAGAGCGGACCCGAG -3'
(R):5'- TTGAAGACCAGCATCCTAACTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation