Incidental Mutation 'R0220:Foxred1'
| ID |
33792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred1
|
| Ensembl Gene |
ENSMUSG00000039048 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
| Synonyms |
TEG-23, Tex23 |
| MMRRC Submission |
038469-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35120749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 128
(L128P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000135054]
[ENSMUST00000138287]
[ENSMUST00000138692]
[ENSMUST00000151658]
[ENSMUST00000139703]
[ENSMUST00000142595]
[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: L128P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: L128P
| 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: L128P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: L128P
| 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 |
unknown
Transcript: ENSMUST00000151658
AA Change: S130P
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: S130P
| 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 damaging
Transcript: ENSMUST00000139703
AA Change: L128P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: L128P
| 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: L128P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: L128P
| 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: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216618
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,195,194 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,187,852 (GRCm39) |
V863A |
probably benign |
Het |
| Anxa6 |
A |
C |
11: 54,872,588 (GRCm39) |
|
probably null |
Het |
| Armc10 |
A |
G |
5: 21,866,582 (GRCm39) |
K296R |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,287,293 (GRCm39) |
F38I |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bcl6 |
T |
A |
16: 23,784,969 (GRCm39) |
H677L |
possibly damaging |
Het |
| Bcl7a |
G |
A |
5: 123,489,982 (GRCm39) |
V49I |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,254 (GRCm39) |
L144P |
probably damaging |
Het |
| Cdh8 |
G |
T |
8: 99,838,311 (GRCm39) |
P510T |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,632,225 (GRCm39) |
K375N |
possibly damaging |
Het |
| Cubn |
C |
A |
2: 13,361,520 (GRCm39) |
R1695L |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,080 (GRCm39) |
V253I |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,476 (GRCm39) |
I208T |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,759,727 (GRCm39) |
E277D |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,542 (GRCm39) |
V625I |
probably benign |
Het |
| Dot1l |
A |
T |
10: 80,621,692 (GRCm39) |
D448V |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,582 (GRCm39) |
D253G |
probably damaging |
Het |
| Eme1 |
T |
A |
11: 94,541,084 (GRCm39) |
E246V |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,422 (GRCm39) |
S245R |
probably damaging |
Het |
| Gm5141 |
T |
A |
13: 62,922,271 (GRCm39) |
K299N |
probably damaging |
Het |
| Greb1 |
C |
A |
12: 16,732,287 (GRCm39) |
R1558L |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,364,203 (GRCm39) |
F282I |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,374,947 (GRCm39) |
D288G |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,418 (GRCm39) |
V480E |
probably benign |
Het |
| Kif26a |
A |
T |
12: 112,123,824 (GRCm39) |
Q143L |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,829 (GRCm39) |
D97N |
probably benign |
Het |
| Krt34 |
C |
T |
11: 99,929,519 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
A |
T |
2: 25,667,843 (GRCm39) |
H77L |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,342,672 (GRCm39) |
R529H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,936 (GRCm39) |
E368G |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,447,609 (GRCm39) |
M442K |
probably damaging |
Het |
| Naca |
T |
C |
10: 127,879,255 (GRCm39) |
|
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,724 (GRCm39) |
T1021I |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,013 (GRCm39) |
V530E |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,467 (GRCm39) |
V283A |
probably damaging |
Het |
| Opn5 |
A |
G |
17: 42,907,495 (GRCm39) |
V127A |
probably benign |
Het |
| Or4c126 |
G |
T |
2: 89,824,206 (GRCm39) |
L156F |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,095 (GRCm39) |
M116K |
probably damaging |
Het |
| Pcgf6 |
A |
G |
19: 47,028,529 (GRCm39) |
V291A |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,869,459 (GRCm39) |
R47L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,383,027 (GRCm39) |
S72A |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,214,167 (GRCm39) |
F144S |
possibly damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,319,505 (GRCm39) |
D798V |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,068,999 (GRCm39) |
S563P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,368 (GRCm39) |
H426R |
possibly damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,271 (GRCm39) |
C138S |
possibly damaging |
Het |
| Traf1 |
A |
T |
2: 34,839,115 (GRCm39) |
V70D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,641,737 (GRCm39) |
Y13453C |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,183,931 (GRCm39) |
V97D |
possibly damaging |
Het |
| Ugt1a8 |
A |
T |
1: 88,016,057 (GRCm39) |
I157L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,332 (GRCm39) |
C700S |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,723,733 (GRCm39) |
D216V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,163,198 (GRCm39) |
Y533H |
unknown |
Het |
| Zfp1005 |
A |
T |
2: 150,110,595 (GRCm39) |
Q428H |
unknown |
Het |
| Zfp81 |
A |
G |
17: 33,555,698 (GRCm39) |
I43T |
possibly damaging |
Het |
| Zfp963 |
A |
T |
8: 70,196,145 (GRCm39) |
Y103N |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,196,143 (GRCm39) |
Y103* |
probably null |
Het |
| Zzef1 |
G |
T |
11: 72,756,792 (GRCm39) |
D1126Y |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGGTGGCAGCATCCTTTTC -3'
(R):5'- TGACAGCTTCCATTGCAGGATTCC -3'
Sequencing Primer
(F):5'- CCAGGTACTCCTGAGTGCAAAG -3'
(R):5'- CATGACAGTCTACGTCGGTT -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation