Incidental Mutation 'R0763:Foxred1'
| ID |
72517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred1
|
| Ensembl Gene |
ENSMUSG00000039048 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
| Synonyms |
TEG-23, Tex23 |
| MMRRC Submission |
038943-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0763 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 35118769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000135054]
[ENSMUST00000138287]
[ENSMUST00000138692]
[ENSMUST00000151658]
[ENSMUST00000154691]
[ENSMUST00000142595]
[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 null
Transcript: ENSMUST00000043805
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
| 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 null
Transcript: ENSMUST00000127996
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
| 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: 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: 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: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140177
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000216618
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
96% (52/54) |
| 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 |
|---|
| Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
| Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
| Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
| Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
| Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
| Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
| Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
| N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
| Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
| Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
| Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
| Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
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 |
|
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 |
|
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'- TGGCTATCCAGGAATAGGGCAGTG -3'
(R):5'- TCTGGCCTTCAGCATGACTGAAC -3'
Sequencing Primer
(F):5'- CCAGGAATAGGGCAGTGTAGTG -3'
(R):5'- gtgtgtgtgtgtgtgGGG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation