Incidental Mutation 'IGL01010:Mtarc2'
ID |
53386 |
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 # |
IGL01010
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
184545265-184578648 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 184551513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 308
(I308L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068725]
[ENSMUST00000161821]
|
AlphaFold |
Q922Q1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068725
AA Change: I308L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066715 Gene: ENSMUSG00000073481 AA Change: I308L
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 |
noncoding transcript
Transcript: ENSMUST00000162261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162866
|
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
C |
A |
8: 73,199,059 (GRCm39) |
S155R |
probably damaging |
Het |
Acss3 |
G |
T |
10: 106,859,710 (GRCm39) |
|
probably benign |
Het |
Ano4 |
G |
A |
10: 88,796,462 (GRCm39) |
T680I |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,375 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
A |
G |
17: 74,134,484 (GRCm39) |
D281G |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,275,212 (GRCm39) |
L196P |
probably damaging |
Het |
Gal3st1 |
T |
C |
11: 3,946,914 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
A |
16: 91,439,980 (GRCm39) |
R4* |
probably null |
Het |
Gm21738 |
T |
A |
14: 19,417,361 (GRCm38) |
T56S |
probably benign |
Het |
Gm3573 |
T |
A |
14: 42,009,523 (GRCm39) |
I141L |
probably benign |
Het |
Gpr6 |
A |
G |
10: 40,947,147 (GRCm39) |
M145T |
probably benign |
Het |
Kcns3 |
T |
C |
12: 11,142,427 (GRCm39) |
M91V |
probably benign |
Het |
Mto1 |
A |
G |
9: 78,368,925 (GRCm39) |
K529R |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,446 (GRCm39) |
V1164D |
probably damaging |
Het |
Or2ag13 |
T |
C |
7: 106,473,460 (GRCm39) |
|
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,288 (GRCm39) |
I114N |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,503,984 (GRCm39) |
|
probably benign |
Het |
Psg26 |
T |
C |
7: 18,212,255 (GRCm39) |
S367G |
possibly damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,393,592 (GRCm39) |
M513V |
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,956,606 (GRCm39) |
G722D |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,827,986 (GRCm39) |
E1005G |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,959,048 (GRCm39) |
L122Q |
possibly damaging |
Het |
Traf2 |
G |
A |
2: 25,410,450 (GRCm39) |
R400* |
probably null |
Het |
Trim33 |
C |
T |
3: 103,254,031 (GRCm39) |
Q153* |
probably null |
Het |
Zmynd15 |
T |
C |
11: 70,356,742 (GRCm39) |
Y551H |
probably damaging |
Het |
Znrd2 |
A |
G |
19: 5,781,293 (GRCm39) |
S78P |
probably damaging |
Het |
|
Other mutations in Mtarc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01326:Mtarc2
|
APN |
1 |
184,566,048 (GRCm39) |
splice site |
probably benign |
|
IGL01386:Mtarc2
|
APN |
1 |
184,551,413 (GRCm39) |
unclassified |
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 |
2013-06-28 |