Incidental Mutation 'R5840:Foxred1'
| ID |
450385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxred1
|
| Ensembl Gene |
ENSMUSG00000039048 |
| Gene Name |
FAD-dependent oxidoreductase domain containing 1 |
| Synonyms |
TEG-23, Tex23 |
| MMRRC Submission |
044060-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35115502-35122351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35121435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 38
(K38E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000127996]
[ENSMUST00000132799]
[ENSMUST00000135054]
[ENSMUST00000138287]
[ENSMUST00000139703]
[ENSMUST00000142595]
[ENSMUST00000151658]
[ENSMUST00000154691]
[ENSMUST00000138692]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000043805
AA Change: K38E
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: K38E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
462 |
2.8e-50 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127996
AA Change: K38E
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: K38E
| 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 |
possibly damaging
Transcript: ENSMUST00000139703
AA Change: K38E
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: K38E
| 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: K38E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: K38E
| 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: K38E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: K38E
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216618
|
| Meta Mutation Damage Score |
0.1711 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.5%
- 20x: 88.1%
|
| Validation Efficiency |
99% (75/76) |
| 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 |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Aip |
G |
A |
19: 4,166,010 (GRCm39) |
P147L |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,448,957 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,046,518 (GRCm39) |
V240I |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,176,528 (GRCm39) |
E684G |
probably damaging |
Het |
| BC005624 |
G |
A |
2: 30,871,869 (GRCm39) |
R2W |
probably benign |
Het |
| Cd177 |
T |
G |
7: 24,457,495 (GRCm39) |
Q182P |
probably damaging |
Het |
| Cdca5 |
G |
A |
19: 6,140,399 (GRCm39) |
E187K |
possibly damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,839 (GRCm39) |
Q39R |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,617,511 (GRCm39) |
I1079V |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,556,712 (GRCm39) |
E85D |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,472 (GRCm39) |
S497R |
possibly damaging |
Het |
| Ephb6 |
C |
T |
6: 41,592,507 (GRCm39) |
A339V |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,393,068 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
T |
A |
18: 9,726,528 (GRCm39) |
Q48L |
probably damaging |
Het |
| Gng2 |
A |
G |
14: 19,925,882 (GRCm39) |
I70T |
probably damaging |
Het |
| Gtf2a2 |
A |
G |
9: 69,922,575 (GRCm39) |
|
probably benign |
Het |
| Invs |
A |
G |
4: 48,396,284 (GRCm39) |
D263G |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,352,157 (GRCm39) |
V475M |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,809,374 (GRCm39) |
|
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,440 (GRCm39) |
F449L |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,316,755 (GRCm39) |
C83S |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,587,154 (GRCm39) |
T648K |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,962 (GRCm39) |
F214L |
possibly damaging |
Het |
| N4bp2 |
T |
G |
5: 65,965,437 (GRCm39) |
L1162R |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,373 (GRCm39) |
I117N |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,006,054 (GRCm39) |
S1492P |
probably benign |
Het |
| Nf2 |
T |
A |
11: 4,766,146 (GRCm39) |
D128V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,010,001 (GRCm39) |
S401P |
probably benign |
Het |
| Nt5c1b |
T |
C |
12: 10,427,171 (GRCm39) |
V323A |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,463 (GRCm39) |
V295I |
probably benign |
Het |
| Or52s19 |
T |
A |
7: 103,007,576 (GRCm39) |
H275L |
probably damaging |
Het |
| Or5b118 |
G |
A |
19: 13,449,242 (GRCm39) |
V303I |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,803 (GRCm39) |
V303A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,863,713 (GRCm39) |
H17Q |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,824,558 (GRCm39) |
V716I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,990,732 (GRCm39) |
S495L |
possibly damaging |
Het |
| Psg18 |
A |
G |
7: 18,080,527 (GRCm39) |
|
probably benign |
Het |
| Rcc2 |
T |
G |
4: 140,439,449 (GRCm39) |
N175K |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,059,032 (GRCm39) |
T276I |
probably benign |
Het |
| Rnase9 |
A |
T |
14: 51,276,445 (GRCm39) |
Y178N |
probably benign |
Het |
| Sema4b |
T |
C |
7: 79,868,697 (GRCm39) |
C297R |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,266,227 (GRCm39) |
|
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,389,126 (GRCm39) |
N169Y |
probably damaging |
Het |
| Srsf9 |
T |
G |
5: 115,469,524 (GRCm39) |
M29R |
probably benign |
Het |
| Stip1 |
C |
A |
19: 6,999,436 (GRCm39) |
D449Y |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,927,065 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,916,141 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
T |
17: 14,901,692 (GRCm39) |
|
probably null |
Het |
| Trak2 |
T |
C |
1: 58,958,432 (GRCm39) |
E283G |
probably damaging |
Het |
| Trbv21 |
A |
G |
6: 41,179,792 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,531 (GRCm39) |
Y949* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,778,161 (GRCm39) |
D221G |
possibly damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,187,262 (GRCm39) |
V85D |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,600 (GRCm39) |
W162R |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,484,314 (GRCm39) |
|
probably benign |
Het |
| Zc3h8 |
A |
C |
2: 128,771,824 (GRCm39) |
D276E |
probably benign |
Het |
| Zfp369 |
C |
T |
13: 65,445,092 (GRCm39) |
T745I |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,978 (GRCm39) |
K654R |
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 |
|
|
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 |
|
|
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'- AGATGACTGCCCTTACTCCC -3'
(R):5'- CTGCTGCATATGAGTTGATCTTATGAG -3'
Sequencing Primer
(F):5'- CCCTGACCTCACCGTGTG -3'
(R):5'- TCTTATGAGAAAGGATGACATTGGAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation