Incidental Mutation 'R5489:Foxred1'
ID |
431987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxred1
|
Ensembl Gene |
ENSMUSG00000039048 |
Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
Synonyms |
TEG-23, Tex23 |
MMRRC Submission |
043050-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5489 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35121266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 94
(V94E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000132799]
[ENSMUST00000135054]
[ENSMUST00000139703]
[ENSMUST00000142595]
[ENSMUST00000151658]
[ENSMUST00000138287]
[ENSMUST00000138692]
[ENSMUST00000154691]
|
AlphaFold |
Q3TQB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034541
|
SMART Domains |
Protein: ENSMUSP00000034541 Gene: ENSMUSG00000032042
Domain | Start | End | E-Value | Type |
Pfam:SRP-alpha_N
|
27 |
301 |
4.4e-69 |
PFAM |
SRP54_N
|
318 |
395 |
4.04e-6 |
SMART |
AAA
|
415 |
568 |
9.65e-10 |
SMART |
SRP54
|
416 |
635 |
3.47e-78 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043805
AA Change: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038924 Gene: ENSMUSG00000039048 AA Change: V94E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
Pfam:DAO
|
65 |
462 |
2.8e-50 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127996
AA Change: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118037 Gene: ENSMUSG00000039048 AA Change: V94E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
Pfam:DAO
|
65 |
456 |
1.8e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130072
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132799
|
SMART Domains |
Protein: ENSMUSP00000115104 Gene: ENSMUSG00000032042
Domain | Start | End | E-Value | Type |
Pfam:SRP54
|
3 |
132 |
8.6e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135054
|
SMART Domains |
Protein: ENSMUSP00000115301 Gene: ENSMUSG00000039048
Domain | Start | End | E-Value | Type |
Pfam:DAO
|
3 |
140 |
1.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139703
AA Change: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122535 Gene: ENSMUSG00000039048 AA Change: V94E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
Pfam:DAO
|
65 |
184 |
1.6e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142595
AA Change: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117147 Gene: ENSMUSG00000039048 AA Change: V94E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
Pfam:DAO
|
65 |
187 |
3.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151658
AA Change: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120284 Gene: ENSMUSG00000039048 AA Change: V94E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
Pfam:DAO
|
65 |
121 |
5.8e-9 |
PFAM |
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140177
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138692
|
SMART Domains |
Protein: ENSMUSP00000120556 Gene: ENSMUSG00000039048
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154691
|
SMART Domains |
Protein: ENSMUSP00000123496 Gene: ENSMUSG00000039048
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216618
|
Meta Mutation Damage Score |
0.9507 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
Validation Efficiency |
95% (57/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,268,778 (GRCm39) |
M1K |
probably null |
Het |
Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,390,706 (GRCm39) |
T208A |
possibly damaging |
Het |
Brd8 |
A |
T |
18: 34,741,698 (GRCm39) |
|
probably null |
Het |
Caln1 |
G |
T |
5: 130,443,673 (GRCm39) |
R2L |
possibly damaging |
Het |
Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
Clec14a |
A |
G |
12: 58,315,035 (GRCm39) |
F196L |
probably damaging |
Het |
Clec2f |
T |
C |
6: 128,997,449 (GRCm39) |
|
noncoding transcript |
Het |
Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
Cyb561 |
A |
G |
11: 105,826,349 (GRCm39) |
V202A |
probably benign |
Het |
Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
Ddx54 |
A |
G |
5: 120,762,786 (GRCm39) |
T636A |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,009,930 (GRCm39) |
F3774V |
probably damaging |
Het |
Ern1 |
A |
G |
11: 106,298,355 (GRCm39) |
S674P |
probably damaging |
Het |
Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
Frmd8 |
T |
A |
19: 5,902,680 (GRCm39) |
Q457L |
probably damaging |
Het |
Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
Heatr6 |
A |
G |
11: 83,665,258 (GRCm39) |
E741G |
probably damaging |
Het |
Hnrnpab |
A |
G |
11: 51,495,640 (GRCm39) |
L133S |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
Leap2 |
T |
G |
11: 53,313,240 (GRCm39) |
*77C |
probably null |
Het |
Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
Mrps9 |
T |
G |
1: 42,937,593 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,305,169 (GRCm39) |
S158P |
probably benign |
Het |
Mus81 |
T |
C |
19: 5,537,917 (GRCm39) |
|
probably benign |
Het |
Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
Padi2 |
T |
C |
4: 140,671,799 (GRCm39) |
F509S |
probably damaging |
Het |
Pcdha12 |
A |
G |
18: 37,155,260 (GRCm39) |
T660A |
probably benign |
Het |
Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
Slc17a4 |
A |
G |
13: 24,082,825 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
Thap3 |
T |
A |
4: 152,070,109 (GRCm39) |
|
probably benign |
Het |
Tmem45a |
T |
A |
16: 56,646,074 (GRCm39) |
|
probably null |
Het |
Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
Zfp735 |
G |
A |
11: 73,601,419 (GRCm39) |
W121* |
probably null |
Het |
Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
possibly damaging |
Het |
|
Other mutations in Foxred1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02163:Foxred1
|
APN |
9 |
35,117,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02314:Foxred1
|
APN |
9 |
35,117,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02379:Foxred1
|
APN |
9 |
35,121,282 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02558:Foxred1
|
APN |
9 |
35,121,429 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4494001:Foxred1
|
UTSW |
9 |
35,120,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0220:Foxred1
|
UTSW |
9 |
35,120,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Foxred1
|
UTSW |
9 |
35,116,178 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0763:Foxred1
|
UTSW |
9 |
35,118,769 (GRCm39) |
splice site |
probably null |
|
R1136:Foxred1
|
UTSW |
9 |
35,116,333 (GRCm39) |
missense |
probably benign |
0.25 |
R1449:Foxred1
|
UTSW |
9 |
35,120,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Foxred1
|
UTSW |
9 |
35,122,130 (GRCm39) |
missense |
probably benign |
0.16 |
R2157:Foxred1
|
UTSW |
9 |
35,116,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R2434:Foxred1
|
UTSW |
9 |
35,116,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R3713:Foxred1
|
UTSW |
9 |
35,122,186 (GRCm39) |
start codon destroyed |
probably null |
|
R4012:Foxred1
|
UTSW |
9 |
35,117,571 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4666:Foxred1
|
UTSW |
9 |
35,122,151 (GRCm39) |
intron |
probably benign |
|
R4934:Foxred1
|
UTSW |
9 |
35,121,210 (GRCm39) |
intron |
probably benign |
|
R5488:Foxred1
|
UTSW |
9 |
35,121,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5828:Foxred1
|
UTSW |
9 |
35,121,492 (GRCm39) |
intron |
probably benign |
|
R5840:Foxred1
|
UTSW |
9 |
35,121,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R7037:Foxred1
|
UTSW |
9 |
35,118,844 (GRCm39) |
missense |
probably benign |
0.04 |
R7599:Foxred1
|
UTSW |
9 |
35,116,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Foxred1
|
UTSW |
9 |
35,117,300 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9795:Foxred1
|
UTSW |
9 |
35,122,152 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTAGCAAAGTCTCTTCCCC -3'
(R):5'- GACTGGGATGCAAAGGTGTC -3'
Sequencing Primer
(F):5'- TTCCCCAACAAAACAATGTTATTGC -3'
(R):5'- GATGCAAAGGTGTCTGACTTTAAG -3'
|
Posted On |
2016-10-05 |