Incidental Mutation 'IGL00777:Rfk'
| ID |
13807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rfk
|
| Ensembl Gene |
ENSMUSG00000024712 |
| Gene Name |
riboflavin kinase |
| Synonyms |
flavokinase, ATP:riboflavin 5'-phosphotransferase, 0610038L10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
17371407-17378713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17372700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 74
(V74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025617]
|
| AlphaFold |
Q8CFV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025617
AA Change: V74E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: V74E
| 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 |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
| Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
| H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
| Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,937,325 (GRCm39) |
T17A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
| Mmp23 |
T |
G |
4: 155,735,464 (GRCm39) |
Y334S |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
| Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
G |
16: 32,656,933 (GRCm39) |
C467R |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,634 (GRCm39) |
M369K |
probably benign |
Het |
| Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,671,924 (GRCm39) |
Y423H |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
probably benign |
Het |
|
| Other mutations in Rfk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1193:Rfk
|
UTSW |
19 |
17,372,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation