Incidental Mutation 'R1136:Foxred1'
| ID |
95007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred1
|
| Ensembl Gene |
ENSMUSG00000039048 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
| Synonyms |
TEG-23, Tex23 |
| MMRRC Submission |
039209-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1136 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35116333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 438
(M438I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000135054]
[ENSMUST00000138287]
[ENSMUST00000138692]
[ENSMUST00000139703]
[ENSMUST00000175765]
[ENSMUST00000151658]
[ENSMUST00000142595]
[ENSMUST00000154691]
|
| AlphaFold |
Q3TQB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043805
AA Change: M438I
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: M438I
| 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 benign
Transcript: ENSMUST00000127996
AA Change: M432I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: M432I
| 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: 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 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: ENSMUST00000139703
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
| 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: ENSMUST00000140177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175765
|
| SMART Domains |
Protein: ENSMUSP00000135435
Gene: ENSMUSG00000032041
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
113 |
206 |
2.4e-8 |
PFAM |
|
Pfam:TIR_2
|
116 |
226 |
1.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151658
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
| 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: ENSMUST00000142595
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
187 |
3.4e-15 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2257 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
C |
T |
13: 68,878,436 (GRCm39) |
G401S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,847 (GRCm39) |
F133L |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,670 (GRCm39) |
E290G |
probably damaging |
Het |
| Ccdc180 |
C |
A |
4: 45,914,589 (GRCm39) |
D701E |
probably benign |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,539,213 (GRCm39) |
I1508N |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,862,329 (GRCm39) |
R80G |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,449,902 (GRCm39) |
V805D |
possibly damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
A |
13: 64,016,934 (GRCm39) |
V679D |
possibly damaging |
Het |
| Esp6 |
T |
C |
17: 40,876,284 (GRCm39) |
Y111H |
probably benign |
Het |
| Focad |
T |
C |
4: 88,244,417 (GRCm39) |
F799S |
unknown |
Het |
| Galnt11 |
T |
G |
5: 25,463,943 (GRCm39) |
V405G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,457,935 (GRCm39) |
Y473H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,450,115 (GRCm39) |
T461M |
probably damaging |
Het |
| Hnrnpu |
A |
T |
1: 178,158,790 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,755,646 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,705,948 (GRCm39) |
H291R |
probably damaging |
Het |
| Mfsd14b |
C |
T |
13: 65,243,506 (GRCm39) |
S46N |
probably benign |
Het |
| Mtch1 |
C |
T |
17: 29,552,744 (GRCm39) |
|
probably null |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 34,820,688 (GRCm39) |
I1880T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,965,815 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,654,049 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
T |
2: 25,297,727 (GRCm39) |
A127S |
probably benign |
Het |
| Nudt3 |
C |
A |
17: 27,842,080 (GRCm39) |
R27L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,424,397 (GRCm39) |
|
probably benign |
Het |
| Pex7 |
T |
A |
10: 19,764,434 (GRCm39) |
I170F |
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,404,902 (GRCm39) |
V57A |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,053 (GRCm39) |
P1687S |
possibly damaging |
Het |
| Plekhj1 |
A |
T |
10: 80,633,654 (GRCm39) |
|
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,968 (GRCm39) |
L312H |
probably damaging |
Het |
| Samsn1 |
T |
C |
16: 75,670,408 (GRCm39) |
I232V |
probably null |
Het |
| Sec63 |
A |
T |
10: 42,682,542 (GRCm39) |
D411V |
probably damaging |
Het |
| Slc44a4 |
C |
T |
17: 35,146,998 (GRCm39) |
H343Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tent2 |
C |
T |
13: 93,312,205 (GRCm39) |
|
probably null |
Het |
| Tmtc3 |
A |
G |
10: 100,307,905 (GRCm39) |
|
probably benign |
Het |
| Trafd1 |
C |
T |
5: 121,511,387 (GRCm39) |
R477H |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,033,626 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,549 (GRCm39) |
D578V |
possibly damaging |
Het |
| Wdcp |
G |
A |
12: 4,901,655 (GRCm39) |
V504I |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,423,196 (GRCm39) |
Y487H |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,441,846 (GRCm39) |
H147R |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATTCCATGTCCAGAGACACCG -3'
(R):5'- GCCCTTTAGCAGATGATCCTGAGC -3'
Sequencing Primer
(F):5'- TGAGGCCCAGAGACAGTTTTC -3'
(R):5'- ATGATCCTGAGCAAGGGTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation