Incidental Mutation 'IGL02558:Foxred1'
| ID |
298391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxred1
|
| Ensembl Gene |
ENSMUSG00000039048 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
| Synonyms |
TEG-23, Tex23 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02558
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35121429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 40
(K40E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000132799]
[ENSMUST00000135054]
[ENSMUST00000138287]
[ENSMUST00000151658]
[ENSMUST00000138692]
[ENSMUST00000142595]
[ENSMUST00000154691]
[ENSMUST00000139703]
|
| 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: K40E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: K40E
| 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: K40E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: K40E
| 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 benign
Transcript: ENSMUST00000138287
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151658
AA Change: K40E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: K40E
| 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 |
silent
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 damaging
Transcript: ENSMUST00000142595
AA Change: K40E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: K40E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
187 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
silent
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 |
probably damaging
Transcript: ENSMUST00000139703
AA Change: K40E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: K40E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
184 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216618
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
C |
5: 3,632,194 (GRCm39) |
*25C |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,349,387 (GRCm39) |
Y3654H |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,861,636 (GRCm39) |
F438S |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,469,390 (GRCm39) |
R1080S |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,921,252 (GRCm39) |
N380Y |
probably damaging |
Het |
| Ccr8 |
A |
T |
9: 119,923,724 (GRCm39) |
I280F |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,786 (GRCm39) |
T535A |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,107,779 (GRCm39) |
T537N |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,964 (GRCm39) |
D35G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,175,827 (GRCm39) |
S530N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,248,599 (GRCm39) |
|
probably null |
Het |
| Csf3r |
T |
C |
4: 125,931,928 (GRCm39) |
|
probably benign |
Het |
| Csk |
C |
T |
9: 57,537,546 (GRCm39) |
E123K |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,852,573 (GRCm39) |
E322K |
probably damaging |
Het |
| Ddx11 |
A |
T |
17: 66,455,667 (GRCm39) |
I663F |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,996,336 (GRCm39) |
M2667L |
possibly damaging |
Het |
| Gata2 |
C |
T |
6: 88,176,762 (GRCm39) |
P74S |
probably benign |
Het |
| Gdf10 |
T |
G |
14: 33,645,937 (GRCm39) |
C29G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,482,848 (GRCm39) |
E3133G |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,218,771 (GRCm39) |
R784W |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 102,982,144 (GRCm39) |
E1392G |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
| Myom2 |
A |
T |
8: 15,164,237 (GRCm39) |
D1044V |
probably benign |
Het |
| Nphp4 |
G |
T |
4: 152,639,988 (GRCm39) |
R958L |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,166,859 (GRCm39) |
P293S |
probably damaging |
Het |
| Or10ag60 |
T |
C |
2: 87,437,903 (GRCm39) |
I57T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,651 (GRCm39) |
H193L |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,674,409 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,915 (GRCm39) |
S1113R |
possibly damaging |
Het |
| Sirpa |
A |
G |
2: 129,471,989 (GRCm39) |
E472G |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,403 (GRCm39) |
L345M |
probably damaging |
Het |
| Snx27 |
C |
T |
3: 94,410,188 (GRCm39) |
R496Q |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,527,388 (GRCm39) |
H1215R |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,768 (GRCm39) |
Y371H |
probably benign |
Het |
| Sult2a1 |
A |
C |
7: 13,566,520 (GRCm39) |
W152G |
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,281,832 (GRCm39) |
K319* |
probably null |
Het |
| Tcf7 |
T |
A |
11: 52,144,797 (GRCm39) |
|
probably benign |
Het |
| Tfdp1 |
A |
G |
8: 13,419,546 (GRCm39) |
N92D |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
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 |
|
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 |
|
R5489: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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation