Incidental Mutation 'R0749:Fdxr'
| ID |
70259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fdxr
|
| Ensembl Gene |
ENSMUSG00000018861 |
| Gene Name |
ferredoxin reductase |
| Synonyms |
|
| MMRRC Submission |
038929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R0749 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115158850-115167876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115167671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 15
(S15P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021078]
[ENSMUST00000056153]
|
| AlphaFold |
Q61578 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021078
AA Change: S15P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861
AA Change: S15P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
28 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
41 |
246 |
2.9e-10 |
PFAM |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056153
|
| SMART Domains |
Protein: ENSMUSP00000058783
Gene: ENSMUSG00000044788
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
62 |
313 |
3.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155130
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,568 (GRCm39) |
*418W |
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
| Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
| Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,648 (GRCm39) |
Y480C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,182,496 (GRCm39) |
Q300* |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,135,914 (GRCm39) |
C390* |
probably null |
Het |
| Sars1 |
A |
C |
3: 108,335,582 (GRCm39) |
F389V |
possibly damaging |
Het |
| Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
probably damaging |
Het |
|
| Other mutations in Fdxr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Fdxr
|
APN |
11 |
115,160,402 (GRCm39) |
missense |
probably benign |
|
|
IGL02524:Fdxr
|
APN |
11 |
115,162,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03195:Fdxr
|
APN |
11 |
115,166,918 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0371:Fdxr
|
UTSW |
11 |
115,166,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1165:Fdxr
|
UTSW |
11 |
115,162,608 (GRCm39) |
unclassified |
probably benign |
|
|
R1819:Fdxr
|
UTSW |
11 |
115,166,930 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2201:Fdxr
|
UTSW |
11 |
115,161,208 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2507:Fdxr
|
UTSW |
11 |
115,162,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2508:Fdxr
|
UTSW |
11 |
115,162,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3701:Fdxr
|
UTSW |
11 |
115,160,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5004:Fdxr
|
UTSW |
11 |
115,160,399 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5333:Fdxr
|
UTSW |
11 |
115,163,084 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5944:Fdxr
|
UTSW |
11 |
115,160,672 (GRCm39) |
missense |
probably benign |
|
|
R7124:Fdxr
|
UTSW |
11 |
115,160,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7460:Fdxr
|
UTSW |
11 |
115,167,680 (GRCm39) |
missense |
probably benign |
|
|
R7780:Fdxr
|
UTSW |
11 |
115,167,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8053:Fdxr
|
UTSW |
11 |
115,160,665 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8254:Fdxr
|
UTSW |
11 |
115,162,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTCCCGCAAGAGCAGACAC -3'
(R):5'- TTGGCTCCCTTCTTCAAGAGCAAC -3'
Sequencing Primer
(F):5'- AGCAGACACGTTCAGCTTTG -3'
(R):5'- CGGAAATCTTGGTGAAGTCTCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation