Incidental Mutation 'R1193:Rfk'
| ID |
100965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfk
|
| Ensembl Gene |
ENSMUSG00000024712 |
| Gene Name |
riboflavin kinase |
| Synonyms |
flavokinase, ATP:riboflavin 5'-phosphotransferase, 0610038L10Rik |
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
17371407-17378713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17372685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 69
(P69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025617]
|
| AlphaFold |
Q8CFV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025617
AA Change: P69L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: P69L
| Domain | Start | End | E-Value | Type |
|---|
|
Flavokinase
|
1 |
131 |
5.68e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146171
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele die in utero prior to E7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or5an9 |
A |
T |
19: 12,187,803 (GRCm39) |
Y291F |
probably damaging |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,700,153 (GRCm39) |
A548T |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sp4 |
C |
T |
12: 118,262,981 (GRCm39) |
R355H |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,895 (GRCm39) |
Y137H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,451 (GRCm39) |
T175A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Rfk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Rfk
|
APN |
19 |
17,372,700 (GRCm39) |
missense |
probably benign |
|
|
IGL03124:Rfk
|
APN |
19 |
17,375,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
PIT4544001:Rfk
|
UTSW |
19 |
17,372,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Rfk
|
UTSW |
19 |
17,375,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3692:Rfk
|
UTSW |
19 |
17,376,834 (GRCm39) |
splice site |
probably null |
|
|
R4151:Rfk
|
UTSW |
19 |
17,372,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4428:Rfk
|
UTSW |
19 |
17,375,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5072:Rfk
|
UTSW |
19 |
17,375,963 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5121:Rfk
|
UTSW |
19 |
17,376,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Rfk
|
UTSW |
19 |
17,372,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Rfk
|
UTSW |
19 |
17,376,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5851:Rfk
|
UTSW |
19 |
17,372,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Rfk
|
UTSW |
19 |
17,376,896 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7658:Rfk
|
UTSW |
19 |
17,376,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8863:Rfk
|
UTSW |
19 |
17,372,590 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCTCGCTCTGTTTCCAAAGG -3'
(R):5'- CAGTTAGCATACAGCCCAGGCTAC -3'
Sequencing Primer
(F):5'- AACCTGTGCTGTCTGAAGAG -3'
(R):5'- ttgaattacgatctctctagtagtcc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation