Incidental Mutation 'IGL01010:Marc2'
ID53386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marc2
Ensembl Gene ENSMUSG00000073481
Gene Namemitochondrial amidoxime reducing component 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01010
Quality Score
Status
Chromosome1
Chromosomal Location184813068-184846451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 184819316 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:MOSC_N 1 82 9e-24 PFAM
Pfam:MOSC 94 190 2.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162866
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 72,445,215 S155R probably damaging Het
Acss3 G T 10: 107,023,849 probably benign Het
Ano4 G A 10: 88,960,600 T680I probably benign Het
Drosha C T 15: 12,827,289 probably benign Het
Ehd3 A G 17: 73,827,489 D281G probably damaging Het
Exoc5 A G 14: 49,037,755 L196P probably damaging Het
Gal3st1 T C 11: 3,996,914 probably benign Het
Gart G A 16: 91,643,092 R4* probably null Het
Gm21738 T A 14: 19,417,361 T56S probably benign Het
Gm3573 T A 14: 42,187,566 I141L probably benign Het
Gpr6 A G 10: 41,071,151 M145T probably benign Het
Kcns3 T C 12: 11,092,426 M91V probably benign Het
Mto1 A G 9: 78,461,643 K529R probably benign Het
Naip2 A T 13: 100,154,938 V1164D probably damaging Het
Olfr1053 A T 2: 86,314,944 I114N probably damaging Het
Olfr695 T C 7: 106,874,253 probably benign Het
Plekha1 T C 7: 130,902,254 probably benign Het
Psg26 T C 7: 18,478,330 S367G possibly damaging Het
Rps6kb1 T C 11: 86,502,766 M513V probably benign Het
Slitrk3 C T 3: 73,049,273 G722D probably benign Het
Sssca1 A G 19: 5,731,265 S78P probably damaging Het
Stag1 A G 9: 100,945,933 E1005G probably benign Het
Tgfbr2 A T 9: 116,129,980 L122Q possibly damaging Het
Traf2 G A 2: 25,520,438 R400* probably null Het
Trim33 C T 3: 103,346,715 Q153* probably null Het
Zmynd15 T C 11: 70,465,916 Y551H probably damaging Het
Other mutations in Marc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Marc2 APN 1 184833851 splice site probably benign
IGL01386:Marc2 APN 1 184819216 unclassified probably benign
IGL01636:Marc2 APN 1 184832641 missense probably benign 0.25
LCD18:Marc2 UTSW 1 184822788 intron probably benign
R0594:Marc2 UTSW 1 184841339 missense probably benign 0.00
R1340:Marc2 UTSW 1 184822547 missense probably benign 0.05
R3797:Marc2 UTSW 1 184841308 missense possibly damaging 0.79
R4899:Marc2 UTSW 1 184845624 missense probably damaging 1.00
R4960:Marc2 UTSW 1 184833919 missense probably benign 0.00
R5734:Marc2 UTSW 1 184832589 missense probably benign 0.01
R6266:Marc2 UTSW 1 184833943 missense probably damaging 1.00
R6331:Marc2 UTSW 1 184819328 missense probably damaging 0.98
R6550:Marc2 UTSW 1 184819342 missense probably damaging 1.00
R6986:Marc2 UTSW 1 184841263 missense probably benign
R7569:Marc2 UTSW 1 184841425 missense not run
Posted On2013-06-28