Incidental Mutation 'E0370:Mtarc1'
ID 206400
Institutional Source Beutler Lab
Gene Symbol Mtarc1
Ensembl Gene ENSMUSG00000026621
Gene Name mitochondrial amidoxime reducing component 1
Synonyms 1300013F15Rik, Marc1, Mosc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # E0370 (G1)
Quality Score 221
Status Validated
Chromosome 1
Chromosomal Location 184518964-184543510 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 184527425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048462] [ENSMUST00000110992] [ENSMUST00000189492]
AlphaFold Q9CW42
Predicted Effect probably benign
Transcript: ENSMUST00000048462
SMART Domains Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621

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 benign
Transcript: ENSMUST00000110992
SMART Domains Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.1%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik TGCAGCGACTGGACGGCGGCA TGCA 11: 70,507,252 (GRCm39) probably null Het
Aire T A 10: 77,877,897 (GRCm39) N180I probably damaging Het
Asic3 G T 5: 24,618,985 (GRCm39) L92F probably damaging Het
Birc6 G A 17: 74,984,352 (GRCm39) D4455N probably damaging Het
Cd36 A T 5: 17,990,747 (GRCm39) C464* probably null Het
Cdx1 A C 18: 61,153,501 (GRCm39) I179S probably damaging Het
Dnah2 A T 11: 69,406,441 (GRCm39) probably null Het
Dst A T 1: 34,288,552 (GRCm39) probably benign Het
Epb41l3 A G 17: 69,581,799 (GRCm39) N580S possibly damaging Het
Hnrnpm A T 17: 33,877,896 (GRCm39) probably benign Het
Katnip A G 7: 125,449,474 (GRCm39) D846G probably benign Het
Map2 A T 1: 66,455,883 (GRCm39) probably benign Het
Mapk11 T C 15: 89,030,716 (GRCm39) D88G probably damaging Het
Mbd4 C T 6: 115,826,116 (GRCm39) E271K possibly damaging Het
Mpp4 T G 1: 59,178,917 (GRCm39) probably benign Het
Muc2 T C 7: 141,282,598 (GRCm39) Y609H probably damaging Het
Or8b3b A T 9: 38,583,857 (GRCm39) D307E probably damaging Het
Pex1 T A 5: 3,681,614 (GRCm39) probably null Het
Prdm11 T C 2: 92,810,924 (GRCm39) Y225C probably damaging Het
Psmc3 T A 2: 90,885,463 (GRCm39) probably null Het
Slc26a8 A T 17: 28,861,361 (GRCm39) D774E possibly damaging Het
Slc9a2 A T 1: 40,802,701 (GRCm39) probably null Het
Smc1b A G 15: 85,011,782 (GRCm39) Y168H probably damaging Het
Steap1 T C 5: 5,790,673 (GRCm39) R92G probably damaging Het
Tbx22 T C X: 106,728,759 (GRCm39) I430T probably benign Het
Tfap4 T A 16: 4,377,334 (GRCm39) H16L possibly damaging Het
Tnxb A G 17: 34,897,917 (GRCm39) D855G probably damaging Het
Trip13 A G 13: 74,068,558 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r121 A G X: 123,037,617 (GRCm39) V801A probably benign Het
Wiz C T 17: 32,574,092 (GRCm39) R935Q probably damaging Het
Other mutations in Mtarc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01454:Mtarc1 APN 1 184,539,377 (GRCm39) missense probably damaging 1.00
IGL01985:Mtarc1 APN 1 184,519,931 (GRCm39) missense probably damaging 1.00
PIT1430001:Mtarc1 UTSW 1 184,539,246 (GRCm39) missense probably benign
PIT4366001:Mtarc1 UTSW 1 184,539,383 (GRCm39) missense probably benign 0.10
R1335:Mtarc1 UTSW 1 184,536,138 (GRCm39) missense probably benign 0.01
R1538:Mtarc1 UTSW 1 184,534,199 (GRCm39) missense probably damaging 0.99
R2139:Mtarc1 UTSW 1 184,527,632 (GRCm39) missense probably benign 0.17
R4591:Mtarc1 UTSW 1 184,539,365 (GRCm39) missense probably benign 0.10
R5642:Mtarc1 UTSW 1 184,543,116 (GRCm39) missense probably damaging 1.00
R6251:Mtarc1 UTSW 1 184,527,648 (GRCm39) missense probably damaging 1.00
R6370:Mtarc1 UTSW 1 184,527,689 (GRCm39) missense probably damaging 1.00
R7095:Mtarc1 UTSW 1 184,527,437 (GRCm39) missense probably damaging 1.00
R9416:Mtarc1 UTSW 1 184,527,633 (GRCm39) missense probably benign 0.01
Z1177:Mtarc1 UTSW 1 184,536,134 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TATAGGCAGTATGGAACCCTGGG -3'
(R):5'- ATGGCTTGTACCCGGTAAGAC -3'

Sequencing Primer
(F):5'- TGGAACCCTGGGCATAATTATC -3'
(R):5'- GGTAAGACCCTTTCCTGTCATGG -3'
Posted On 2014-06-23