Incidental Mutation 'R4399:Foxred2'
ID |
325647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxred2
|
Ensembl Gene |
ENSMUSG00000016552 |
Gene Name |
FAD-dependent oxidoreductase domain containing 2 |
Synonyms |
D15Bwg0759e, A430097D04Rik, LOC239554 |
MMRRC Submission |
041686-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4399 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
77824722-77840922 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 77837558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 226
(V226G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113403
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016696]
[ENSMUST00000117725]
|
AlphaFold |
Q3USW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016696
AA Change: V226G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000016696 Gene: ENSMUSG00000016552 AA Change: V226G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pyr_redox_2
|
22 |
243 |
2.9e-11 |
PFAM |
Pfam:Pyr_redox_3
|
25 |
240 |
9.3e-35 |
PFAM |
Pfam:NAD_binding_8
|
26 |
84 |
3.3e-6 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117725
AA Change: V226G
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113403 Gene: ENSMUSG00000016552 AA Change: V226G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pyr_redox_2
|
23 |
478 |
3.4e-9 |
PFAM |
Pfam:Pyr_redox_3
|
25 |
240 |
6.2e-37 |
PFAM |
Pfam:NAD_binding_8
|
26 |
90 |
4.8e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129045
|
Meta Mutation Damage Score |
0.1315 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (44/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
G6pd2 |
T |
A |
5: 61,967,516 (GRCm39) |
N430K |
probably benign |
Het |
Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
Prkcz |
A |
T |
4: 155,353,534 (GRCm39) |
I454N |
possibly damaging |
Het |
Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
Sh2d3c |
G |
A |
2: 32,636,172 (GRCm39) |
G332D |
probably damaging |
Het |
Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
Slc35b3 |
A |
G |
13: 39,121,791 (GRCm39) |
F73L |
possibly damaging |
Het |
Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
St8sia5 |
T |
C |
18: 77,340,714 (GRCm39) |
C191R |
probably damaging |
Het |
Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Foxred2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01394:Foxred2
|
APN |
15 |
77,839,820 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01479:Foxred2
|
APN |
15 |
77,836,489 (GRCm39) |
splice site |
probably null |
|
IGL01748:Foxred2
|
APN |
15 |
77,836,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02160:Foxred2
|
APN |
15 |
77,839,850 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02328:Foxred2
|
APN |
15 |
77,840,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02630:Foxred2
|
APN |
15 |
77,831,362 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02672:Foxred2
|
APN |
15 |
77,829,777 (GRCm39) |
critical splice donor site |
probably null |
|
soma
|
UTSW |
15 |
77,837,558 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0271:Foxred2
|
UTSW |
15 |
77,827,590 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1386:Foxred2
|
UTSW |
15 |
77,832,721 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1581:Foxred2
|
UTSW |
15 |
77,839,961 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4399:Foxred2
|
UTSW |
15 |
77,839,880 (GRCm39) |
missense |
probably benign |
0.06 |
R4528:Foxred2
|
UTSW |
15 |
77,827,449 (GRCm39) |
missense |
probably benign |
0.01 |
R4937:Foxred2
|
UTSW |
15 |
77,840,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R5165:Foxred2
|
UTSW |
15 |
77,840,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R5318:Foxred2
|
UTSW |
15 |
77,836,598 (GRCm39) |
missense |
probably benign |
0.00 |
R5893:Foxred2
|
UTSW |
15 |
77,831,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Foxred2
|
UTSW |
15 |
77,839,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R6370:Foxred2
|
UTSW |
15 |
77,827,506 (GRCm39) |
missense |
probably benign |
0.01 |
R6426:Foxred2
|
UTSW |
15 |
77,837,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6826:Foxred2
|
UTSW |
15 |
77,831,285 (GRCm39) |
missense |
probably benign |
0.01 |
R6891:Foxred2
|
UTSW |
15 |
77,839,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6934:Foxred2
|
UTSW |
15 |
77,836,530 (GRCm39) |
nonsense |
probably null |
|
R7193:Foxred2
|
UTSW |
15 |
77,836,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Foxred2
|
UTSW |
15 |
77,827,550 (GRCm39) |
missense |
probably benign |
0.01 |
R8401:Foxred2
|
UTSW |
15 |
77,836,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R8540:Foxred2
|
UTSW |
15 |
77,836,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R8844:Foxred2
|
UTSW |
15 |
77,832,677 (GRCm39) |
missense |
probably benign |
0.00 |
R8916:Foxred2
|
UTSW |
15 |
77,837,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Foxred2
|
UTSW |
15 |
77,829,805 (GRCm39) |
missense |
probably benign |
0.20 |
R9104:Foxred2
|
UTSW |
15 |
77,836,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Foxred2
|
UTSW |
15 |
77,839,787 (GRCm39) |
critical splice donor site |
probably null |
|
R9205:Foxred2
|
UTSW |
15 |
77,836,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Foxred2
|
UTSW |
15 |
77,836,206 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Foxred2
|
UTSW |
15 |
77,836,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCATCTGCTACGGGGTACTG -3'
(R):5'- TGCTTGTAGCCACTGGTCTG -3'
Sequencing Primer
(F):5'- GACTGGAGACTTAGCCTCTGAAATC -3'
(R):5'- GGCAGTCCCCAAACTGGTTG -3'
|
Posted On |
2015-07-06 |