Incidental Mutation 'IGL01454:Marc1'
ID84728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marc1
Ensembl Gene ENSMUSG00000026621
Gene Namemitochondrial amidoxime reducing component 1
Synonyms1300013F15Rik, Mosc1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01454
Quality Score
Status
Chromosome1
Chromosomal Location184786767-184811313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 184807180 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 98 (L98P)
Ref Sequence ENSEMBL: ENSMUSP00000106620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048462] [ENSMUST00000110992] [ENSMUST00000189492]
Predicted Effect probably damaging
Transcript: ENSMUST00000048462
AA Change: L98P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621
AA Change: L98P

DomainStartEndE-ValueType
transmembrane domain 25 44 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
Pfam:MOSC_N 58 179 1e-39 PFAM
Pfam:MOSC 195 337 3e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110992
AA Change: L98P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621
AA Change: L98P

DomainStartEndE-ValueType
transmembrane domain 25 44 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
Pfam:MOSC_N 58 179 1.7e-40 PFAM
Pfam:MOSC 205 338 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189492
SMART Domains Protein: ENSMUSP00000139716
Gene: ENSMUSG00000026621

DomainStartEndE-ValueType
Pfam:MOSC_N 1 74 4.2e-15 PFAM
Pfam:MOSC 90 232 3.5e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G A 6: 87,496,076 A33V possibly damaging Het
BC004004 T C 17: 29,294,021 S140P possibly damaging Het
Cul3 T C 1: 80,304,183 D26G probably damaging Het
Dnah17 A T 11: 118,058,397 F2929I probably damaging Het
Gm21560 A G 14: 6,216,286 F186L probably benign Het
Krt32 C T 11: 100,084,081 E347K probably damaging Het
Myh8 T C 11: 67,283,596 I223T probably damaging Het
Nr4a3 T A 4: 48,067,803 D466E probably damaging Het
Plxnb1 A T 9: 109,113,354 D1757V probably damaging Het
Pnpt1 T C 11: 29,137,142 I167T probably benign Het
Polrmt T C 10: 79,743,683 E78G possibly damaging Het
Pparg A G 6: 115,439,939 D31G probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Trio T C 15: 27,832,985 I104V probably benign Het
Vgll4 A G 6: 114,863,996 V113A probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zscan20 T C 4: 128,589,541 E445G probably benign Het
Other mutations in Marc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Marc1 APN 1 184787734 missense probably damaging 1.00
E0370:Marc1 UTSW 1 184795228 splice site probably benign
PIT1430001:Marc1 UTSW 1 184807049 missense probably benign
PIT4366001:Marc1 UTSW 1 184807186 missense probably benign 0.10
R1335:Marc1 UTSW 1 184803941 missense probably benign 0.01
R1538:Marc1 UTSW 1 184802002 missense probably damaging 0.99
R2139:Marc1 UTSW 1 184795435 missense probably benign 0.17
R4591:Marc1 UTSW 1 184807168 missense probably benign 0.10
R5642:Marc1 UTSW 1 184810919 missense probably damaging 1.00
R6251:Marc1 UTSW 1 184795451 missense probably damaging 1.00
R6370:Marc1 UTSW 1 184795492 missense probably damaging 1.00
R7095:Marc1 UTSW 1 184795240 missense probably damaging 1.00
Z1177:Marc1 UTSW 1 184803937 missense possibly damaging 0.84
Posted On2013-11-11