Incidental Mutation 'IGL01461:March10'
ID278495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol March10
Ensembl Gene ENSMUSG00000078627
Gene Namemembrane-associated ring finger (C3HC4) 10
Synonyms4933417C16Rik, OTTMUSG00000002847, Rnf190
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01461
Quality Score
Status
Chromosome11
Chromosomal Location105360798-105456735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105389605 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 618 (K618R)
Ref Sequence ENSEMBL: ENSMUSP00000121919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049995] [ENSMUST00000138977]
Predicted Effect probably damaging
Transcript: ENSMUST00000049995
AA Change: K618R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: K618R

DomainStartEndE-ValueType
low complexity region 36 49 N/A INTRINSIC
low complexity region 56 71 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
RINGv 638 695 7.45e-22 SMART
low complexity region 728 737 N/A INTRINSIC
low complexity region 767 781 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138977
AA Change: K618R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: K618R

DomainStartEndE-ValueType
low complexity region 36 49 N/A INTRINSIC
low complexity region 56 71 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
RINGv 638 695 7.45e-22 SMART
low complexity region 728 737 N/A INTRINSIC
low complexity region 767 781 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153672
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Cryaa A G 17: 31,681,026 Y118C probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ing1 T G 8: 11,561,453 F22V probably benign Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kdelc1 T C 1: 44,110,934 Q365R probably damaging Het
Kel A C 6: 41,701,911 probably null Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Miga1 C T 3: 152,335,297 E78K probably damaging Het
Olfr1204 G T 2: 88,852,325 C125F probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in March10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:March10 APN 11 105402188 missense possibly damaging 0.82
IGL01473:March10 APN 11 105389605 missense probably damaging 1.00
Forward UTSW 11 105382237 missense probably damaging 1.00
PIT4142001:March10 UTSW 11 105390520 missense probably benign 0.17
R0195:March10 UTSW 11 105385525 missense probably damaging 1.00
R0520:March10 UTSW 11 105389882 missense probably benign
R0628:March10 UTSW 11 105390160 missense probably benign 0.00
R1087:March10 UTSW 11 105390662 missense probably damaging 1.00
R1440:March10 UTSW 11 105390583 missense probably damaging 1.00
R1802:March10 UTSW 11 105389915 missense probably benign 0.00
R1855:March10 UTSW 11 105390392 missense probably benign
R1860:March10 UTSW 11 105397078 missense probably damaging 0.99
R2504:March10 UTSW 11 105385572 missense probably damaging 1.00
R3788:March10 UTSW 11 105397079 missense probably damaging 1.00
R4629:March10 UTSW 11 105389838 missense probably benign 0.28
R4755:March10 UTSW 11 105364476 intron probably benign
R4776:March10 UTSW 11 105390037 missense probably benign 0.42
R5067:March10 UTSW 11 105390107 missense possibly damaging 0.51
R5192:March10 UTSW 11 105371926 missense possibly damaging 0.68
R5436:March10 UTSW 11 105402165 missense possibly damaging 0.92
R5541:March10 UTSW 11 105390131 missense probably damaging 1.00
R5888:March10 UTSW 11 105402146 missense possibly damaging 0.92
R5908:March10 UTSW 11 105390239 missense probably benign 0.00
R5914:March10 UTSW 11 105385482 missense probably damaging 1.00
R6038:March10 UTSW 11 105402051 missense probably damaging 0.96
R6178:March10 UTSW 11 105389614 missense probably damaging 1.00
R6300:March10 UTSW 11 105382237 missense probably damaging 1.00
R6612:March10 UTSW 11 105397078 missense probably damaging 0.99
R6894:March10 UTSW 11 105396961 missense possibly damaging 0.94
R6921:March10 UTSW 11 105389777 missense probably benign 0.00
R7134:March10 UTSW 11 105408676 missense probably benign
R7199:March10 UTSW 11 105390706 missense probably damaging 0.99
R7546:March10 UTSW 11 105390080 missense not run
R7792:March10 UTSW 11 105390228 missense probably benign
R8241:March10 UTSW 11 105389915 missense probably benign 0.00
Z1088:March10 UTSW 11 105390359 missense probably damaging 1.00
Posted On2015-04-16