Incidental Mutation 'IGL01386:Mtarc2'
| ID |
79066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtarc2
|
| Ensembl Gene |
ENSMUSG00000073481 |
| Gene Name |
mitochondrial amidoxime reducing component 2 |
| Synonyms |
Marc2, Mosc2, 2810484M10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
184545265-184578648 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 184551413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068725]
[ENSMUST00000161821]
|
| AlphaFold |
Q922Q1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068725
|
| SMART Domains |
Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
49 |
N/A |
INTRINSIC |
|
Pfam:MOSC_N
|
54 |
175 |
4.6e-41 |
PFAM |
|
Pfam:MOSC
|
200 |
334 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159293
|
| SMART Domains |
Protein: ENSMUSP00000124809
Gene: ENSMUSG00000073481
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
46 |
N/A |
INTRINSIC |
|
Pfam:MOSC_N
|
51 |
172 |
1.8e-41 |
PFAM |
|
Pfam:MOSC
|
184 |
256 |
2.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161821
|
| SMART Domains |
Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MOSC_N
|
1 |
82 |
9e-24 |
PFAM |
|
Pfam:MOSC
|
94 |
190 |
2.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162261
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,240,446 (GRCm39) |
R214G |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,348,123 (GRCm39) |
K817N |
probably benign |
Het |
| Cyp3a16 |
A |
G |
5: 145,377,244 (GRCm39) |
F448L |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,869,760 (GRCm39) |
|
probably null |
Het |
| Eif2ak3 |
C |
T |
6: 70,869,710 (GRCm39) |
T799M |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,383,090 (GRCm39) |
S302R |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,099,632 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
C |
A |
11: 49,528,162 (GRCm39) |
A995D |
probably benign |
Het |
| Fpr-rs7 |
G |
A |
17: 20,334,454 (GRCm39) |
S12L |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Hpcal4 |
T |
C |
4: 123,083,035 (GRCm39) |
|
probably null |
Het |
| Intu |
A |
T |
3: 40,647,017 (GRCm39) |
D630V |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,933 (GRCm39) |
D703G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,887,060 (GRCm39) |
I122V |
probably benign |
Het |
| Mrpl11 |
A |
C |
19: 5,013,409 (GRCm39) |
K92T |
probably null |
Het |
| Mylk |
A |
G |
16: 34,791,610 (GRCm39) |
|
probably null |
Het |
| Or52ab4 |
A |
T |
7: 102,987,974 (GRCm39) |
K238* |
probably null |
Het |
| Parpbp |
A |
C |
10: 87,975,848 (GRCm39) |
Y88* |
probably null |
Het |
| Plod2 |
G |
A |
9: 92,488,655 (GRCm39) |
R627Q |
probably damaging |
Het |
| Rapsn |
G |
T |
2: 90,867,144 (GRCm39) |
A149S |
probably damaging |
Het |
| Ripk3 |
T |
G |
14: 56,023,484 (GRCm39) |
Q109P |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,361 (GRCm39) |
D401G |
probably damaging |
Het |
| Serpine2 |
G |
A |
1: 79,779,268 (GRCm39) |
T150I |
probably damaging |
Het |
| Sh2d6 |
T |
A |
6: 72,495,945 (GRCm39) |
T98S |
probably benign |
Het |
| Slc28a1 |
G |
T |
7: 80,814,427 (GRCm39) |
A513S |
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,777,207 (GRCm39) |
F795S |
probably damaging |
Het |
| Tcim |
T |
A |
8: 24,928,705 (GRCm39) |
I70F |
probably benign |
Het |
| Thbd |
G |
A |
2: 148,249,602 (GRCm39) |
Q89* |
probably null |
Het |
| Tmem115 |
C |
T |
9: 107,411,859 (GRCm39) |
T61I |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,832,259 (GRCm39) |
V650E |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,992,199 (GRCm39) |
Y595* |
probably null |
Het |
| Uroc1 |
C |
T |
6: 90,323,747 (GRCm39) |
A398V |
probably damaging |
Het |
| Vmn1r31 |
T |
C |
6: 58,449,587 (GRCm39) |
T93A |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,175,024 (GRCm39) |
E545G |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,678,516 (GRCm39) |
V1155A |
possibly damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,869 (GRCm39) |
H179R |
probably benign |
Het |
|
| Other mutations in Mtarc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Mtarc2
|
APN |
1 |
184,551,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01326:Mtarc2
|
APN |
1 |
184,566,048 (GRCm39) |
splice site |
probably benign |
|
|
IGL01636:Mtarc2
|
APN |
1 |
184,564,838 (GRCm39) |
missense |
probably benign |
0.25 |
|
LCD18:Mtarc2
|
UTSW |
1 |
184,554,985 (GRCm39) |
intron |
probably benign |
|
|
R0594:Mtarc2
|
UTSW |
1 |
184,573,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1340:Mtarc2
|
UTSW |
1 |
184,554,744 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3797:Mtarc2
|
UTSW |
1 |
184,573,505 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4899:Mtarc2
|
UTSW |
1 |
184,577,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Mtarc2
|
UTSW |
1 |
184,566,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5734:Mtarc2
|
UTSW |
1 |
184,564,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6266:Mtarc2
|
UTSW |
1 |
184,566,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Mtarc2
|
UTSW |
1 |
184,551,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6550:Mtarc2
|
UTSW |
1 |
184,551,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Mtarc2
|
UTSW |
1 |
184,573,460 (GRCm39) |
missense |
probably benign |
|
|
R7569:Mtarc2
|
UTSW |
1 |
184,573,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7610:Mtarc2
|
UTSW |
1 |
184,551,483 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8152:Mtarc2
|
UTSW |
1 |
184,573,509 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8363:Mtarc2
|
UTSW |
1 |
184,566,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9101:Mtarc2
|
UTSW |
1 |
184,554,687 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation