Incidental Mutation 'IGL01618:March11'
ID 92455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol March11
Ensembl Gene ENSMUSG00000022269
Gene Name membrane-associated ring finger (C3HC4) 11
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # IGL01618
Quality Score
Status
Chromosome 15
Chromosomal Location 26309048-26409576 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26409199 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 328 (I328T)
Ref Sequence ENSEMBL: ENSMUSP00000118729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140840] [ENSMUST00000152841]
AlphaFold Q8CBH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000140840
AA Change: I328T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: I328T

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 73 83 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
RINGv 167 214 4.81e-16 SMART
transmembrane domain 244 266 N/A INTRINSIC
Blast:AAA 269 296 6e-7 BLAST
low complexity region 329 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152841
SMART Domains Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 73 83 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
RINGv 167 214 4.81e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155819
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in March11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03079:March11 APN 15 26311058 missense probably damaging 1.00
R0625:March11 UTSW 15 26311043 missense probably damaging 0.99
R1055:March11 UTSW 15 26309662 missense probably damaging 0.99
R1116:March11 UTSW 15 26409295 missense probably damaging 1.00
R1851:March11 UTSW 15 26387830 missense probably damaging 1.00
R3862:March11 UTSW 15 26387866 missense probably damaging 1.00
R3863:March11 UTSW 15 26387866 missense probably damaging 1.00
R3864:March11 UTSW 15 26387866 missense probably damaging 1.00
R4373:March11 UTSW 15 26309446 missense probably damaging 0.96
R4375:March11 UTSW 15 26309446 missense probably damaging 0.96
R4376:March11 UTSW 15 26309446 missense probably damaging 0.96
R4580:March11 UTSW 15 26311103 missense probably damaging 1.00
R6284:March11 UTSW 15 26409346 missense probably benign 0.36
R6710:March11 UTSW 15 26387863 missense probably damaging 1.00
R7490:March11 UTSW 15 26311101 missense possibly damaging 0.88
R7748:March11 UTSW 15 26387830 missense probably damaging 0.98
R7794:March11 UTSW 15 26409198 missense probably benign 0.09
R7937:March11 UTSW 15 26409237 missense probably damaging 0.99
R7942:March11 UTSW 15 26409419 makesense probably null
X0063:March11 UTSW 15 26387893 missense probably damaging 1.00
Posted On 2013-12-09