Incidental Mutation 'R6336:Foxred2'
| ID |
510778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred2
|
| Ensembl Gene |
ENSMUSG00000016552 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 2 |
| Synonyms |
D15Bwg0759e, A430097D04Rik, LOC239554 |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77824722-77840922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77839964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 109
(Y109H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016696]
[ENSMUST00000100484]
[ENSMUST00000117725]
|
| AlphaFold |
Q3USW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016696
AA Change: Y109H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552
AA Change: Y109H
| 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 |
probably benign
Transcript: ENSMUST00000100484
|
| SMART Domains |
Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-3_zeta
|
4 |
521 |
6.3e-220 |
PFAM |
|
low complexity region
|
530 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117725
AA Change: Y109H
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552
AA Change: Y109H
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229824
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Grin3b |
C |
A |
10: 79,812,295 (GRCm39) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,381,117 (GRCm39) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,384 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
| Whamm |
T |
A |
7: 81,241,512 (GRCm39) |
D274E |
probably damaging |
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 |
|
R4399:Foxred2
|
UTSW |
15 |
77,837,558 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
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'- CTCCAATCTCGAGGCCAATTCG -3'
(R):5'- GCAGGGACTACGAGGTATTC -3'
Sequencing Primer
(F):5'- CCAATTCGGCTGTGTCCTGAG -3'
(R):5'- CAGGGACTACGAGGTATTCGAACG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation