Incidental Mutation 'R3701:Fdxr'
| ID |
258529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fdxr
|
| Ensembl Gene |
ENSMUSG00000018861 |
| Gene Name |
ferredoxin reductase |
| Synonyms |
|
| MMRRC Submission |
040694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R3701 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115158850-115167876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115160527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 336
(L336Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003351]
[ENSMUST00000021078]
[ENSMUST00000106554]
|
| AlphaFold |
Q61578 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003351
|
| SMART Domains |
Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
99 |
299 |
5.1e-12 |
PFAM |
|
PBPe
|
440 |
796 |
1.11e-79 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
500 |
2.79e-18 |
SMART |
|
transmembrane domain
|
816 |
835 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
837 |
924 |
6.8e-15 |
PFAM |
|
low complexity region
|
941 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021078
AA Change: L336Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861
AA Change: L336Q
| 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: ENSMUST00000106554
|
| SMART Domains |
Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
100 |
306 |
6.9e-10 |
PFAM |
|
PBPe
|
440 |
796 |
1.11e-79 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
500 |
2.79e-18 |
SMART |
|
transmembrane domain
|
816 |
835 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
837 |
926 |
1.1e-13 |
PFAM |
|
low complexity region
|
941 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155130
|
| Meta Mutation Damage Score |
0.5465 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
| Akr1c19 |
C |
T |
13: 4,293,032 (GRCm39) |
R263C |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,003 (GRCm39) |
D62G |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,222,312 (GRCm39) |
T357A |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
| Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
| Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,124 (GRCm39) |
T25A |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
| Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
| Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
| Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,939 (GRCm39) |
F964S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
| Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
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 |
|
R0749:Fdxr
|
UTSW |
11 |
115,167,671 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- TTATACCCAACGCTGCTCAG -3'
(R):5'- GGACAACGCTGCAATATTATCC -3'
Sequencing Primer
(F):5'- TCAGCAGCAGTCCACAAGGG -3'
(R):5'- ATCCCATGTTGCTGACAGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation