Incidental Mutation 'R5165:Foxred2'
| ID |
395670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred2
|
| Ensembl Gene |
ENSMUSG00000016552 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 2 |
| Synonyms |
D15Bwg0759e, A430097D04Rik, LOC239554 |
| MMRRC Submission |
042746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5165 (G1)
|
| Quality Score |
106 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77824722-77840922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77840212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 26
(V26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016696]
[ENSMUST00000100484]
[ENSMUST00000117725]
|
| AlphaFold |
Q3USW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016696
AA Change: V26A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552
AA Change: V26A
| 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 |
probably damaging
Transcript: ENSMUST00000117725
AA Change: V26A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552
AA Change: V26A
| 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
|
| Meta Mutation Damage Score |
0.8176 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
| Actl6a |
G |
A |
3: 32,774,357 (GRCm39) |
V285I |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,457,190 (GRCm39) |
I646N |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
| Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
| Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
| Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
| Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
| Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
| Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
| Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnj9 |
A |
T |
1: 172,150,724 (GRCm39) |
D296E |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
| Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
| Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,759 (GRCm39) |
H53Q |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
| Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
| Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
| Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
C |
5: 120,696,010 (GRCm39) |
E81G |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
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 |
|
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 |
|
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'- GCGAGTAGTGTCTGAAGAGC -3'
(R):5'- ATAGATGAGCCCCTAGGTCC -3'
Sequencing Primer
(F):5'- TGAGCAGCGAGTTCCAGTC -3'
(R):5'- TCCCGGGGTTCAGTACTAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation