Incidental Mutation 'R6370:Marc1'
List |< first << previous [record 27 of 57] next >> last >|
ID513450
Institutional Source Beutler Lab
Gene Symbol Marc1
Ensembl Gene ENSMUSG00000026621
Gene Namemitochondrial amidoxime reducing component 1
Synonyms1300013F15Rik, Mosc1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R6370 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location184786767-184811313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 184795492 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 257 (D257G)
Ref Sequence ENSEMBL: ENSMUSP00000106620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048462] [ENSMUST00000110992] [ENSMUST00000189492]
Predicted Effect probably damaging
Transcript: ENSMUST00000048462
AA Change: D255G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621
AA Change: D255G

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: D257G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621
AA Change: D257G

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 damaging
Transcript: ENSMUST00000189492
AA Change: D150G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139716
Gene: ENSMUSG00000026621
AA Change: D150G

DomainStartEndE-ValueType
Pfam:MOSC_N 1 74 4.2e-15 PFAM
Pfam:MOSC 90 232 3.5e-28 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,827,012 V67A probably damaging Het
Atic T A 1: 71,578,660 F590I probably damaging Het
Atxn10 T C 15: 85,393,385 F351S probably damaging Het
Bcl2l13 A G 6: 120,865,622 N92S probably benign Het
Carm1 G T 9: 21,587,519 A518S probably benign Het
Ccar1 C T 10: 62,764,529 R541H probably damaging Het
Cfhr2 A T 1: 139,822,327 L96Q probably damaging Het
Chrnb4 A G 9: 55,034,859 L377S probably benign Het
Clcn3 A G 8: 60,923,024 Y639H probably damaging Het
Cngb1 C T 8: 95,264,422 M717I probably benign Het
Ctcf T C 8: 105,664,220 M153T probably benign Het
Cyp2b19 T C 7: 26,763,358 S222P probably benign Het
Dixdc1 A T 9: 50,682,223 probably null Het
Entpd2 G A 2: 25,397,417 G47S probably damaging Het
Erbb3 A G 10: 128,570,074 M1158T possibly damaging Het
Faah T C 4: 116,003,056 D333G probably damaging Het
Foxred2 T A 15: 77,943,306 T618S probably benign Het
Gm2381 G A 7: 42,820,586 A38V probably benign Het
Gpx5 A T 13: 21,288,702 probably null Het
Gtdc1 A G 2: 44,756,322 V98A probably damaging Het
Hal T C 10: 93,497,506 I312T probably damaging Het
Krtap21-1 T C 16: 89,403,631 Y41C unknown Het
Larp6 A G 9: 60,737,363 E262G probably damaging Het
Lrrn1 A G 6: 107,569,224 Y661C probably damaging Het
Lsm14a A G 7: 34,357,481 V244A probably benign Het
Mfrp T C 9: 44,106,261 C517R probably damaging Het
Ncoa3 T C 2: 166,065,905 S1145P probably benign Het
Nosip G T 7: 45,076,740 probably null Het
Olfr1186 T A 2: 88,499,368 C94* probably null Het
Olfr568 A T 7: 102,877,170 T17S probably benign Het
Olfr664 T C 7: 104,733,917 K149R probably benign Het
Phykpl T C 11: 51,586,716 S112P probably damaging Het
Pik3cb A T 9: 99,040,934 I1015K probably damaging Het
Pomt2 A G 12: 87,109,199 W818R probably damaging Het
Ptpn21 A T 12: 98,689,034 M558K possibly damaging Het
Rnf213 T A 11: 119,477,078 N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Homo
Rxrg T C 1: 167,634,437 V227A probably damaging Het
Satb1 A T 17: 51,782,797 S341T possibly damaging Het
Skint5 T G 4: 113,614,110 Q983P unknown Het
Slc6a18 G A 13: 73,668,159 T367I probably benign Het
Slc7a1 A G 5: 148,340,673 L344P probably damaging Het
Slc7a6 T A 8: 106,195,437 F399I probably benign Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Sugt1 T C 14: 79,610,334 V208A probably benign Het
Syt3 A G 7: 44,395,683 K480E probably damaging Het
Thop1 C T 10: 81,077,983 T186I probably benign Het
Trim55 G A 3: 19,691,486 E509K possibly damaging Het
Upf2 A G 2: 5,976,010 N469S unknown Het
Usp24 G T 4: 106,380,521 K1125N probably null Het
Usp5 A T 6: 124,820,428 D494E probably benign Het
Vmn2r51 T C 7: 10,098,216 K481R probably damaging Het
Vps16 C A 2: 130,443,384 A787D probably damaging Het
Washc4 C T 10: 83,571,362 H488Y possibly damaging Het
Wdfy4 C A 14: 33,068,850 A2053S probably benign Het
Zfp74 A T 7: 29,932,410 D136E probably damaging Het
Other mutations in Marc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01454:Marc1 APN 1 184807180 missense probably damaging 1.00
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
R7095:Marc1 UTSW 1 184795240 missense probably damaging 1.00
Z1177:Marc1 UTSW 1 184803937 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- CACACAAAGCATTGCACGGG -3'
(R):5'- TTCAACATAGGGCGTCATGG -3'

Sequencing Primer
(F):5'- CATTGCACGGGGAACAAAGC -3'
(R):5'- TCATGGGTGGACAAGCTTTCAAAG -3'
Posted On2018-04-27