Incidental Mutation 'R1055:March11'
ID94307
Institutional Source Beutler Lab
Gene Symbol March11
Ensembl Gene ENSMUSG00000022269
Gene Namemembrane-associated ring finger (C3HC4) 11
Synonyms
MMRRC Submission 039145-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R1055 (G1)
Quality Score142
Status Validated
Chromosome15
Chromosomal Location26309048-26409576 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26309662 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 134 (D134V)
Ref Sequence ENSEMBL: ENSMUSP00000120622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126304] [ENSMUST00000140840] [ENSMUST00000152841]
Predicted Effect possibly damaging
Transcript: ENSMUST00000126304
AA Change: D134V

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000140840
AA Change: D134V

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: D134V

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 damaging
Transcript: ENSMUST00000152841
AA Change: D134V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
AA Change: D134V

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
Meta Mutation Damage Score 0.1126 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 63,973,275 V168A possibly damaging Het
A1cf C A 19: 31,932,519 T237N probably benign Het
Actl10 A T 2: 154,552,668 Q180L probably benign Het
Adcy1 T C 11: 7,109,075 L327P probably damaging Het
Adcy7 T C 8: 88,318,057 probably benign Het
Ahctf1 G A 1: 179,763,486 T1243I possibly damaging Het
Akap6 C T 12: 52,880,672 Q122* probably null Het
Apob G A 12: 7,994,963 G861D probably damaging Het
Arhgef11 A C 3: 87,717,118 T539P probably benign Het
Cd244 T A 1: 171,577,276 V232E probably damaging Het
Chia1 A C 3: 106,130,883 D365A probably damaging Het
Clpsl2 C T 17: 28,549,526 Q5* probably null Het
Clrn1 T A 3: 58,865,110 I117F probably benign Het
Csmd3 A G 15: 47,881,537 L1354P probably damaging Het
Csn2 G A 5: 87,694,737 P144S possibly damaging Het
D17Wsu92e T C 17: 27,767,936 N272S probably damaging Het
Dcdc2a T A 13: 25,102,610 M172K probably damaging Het
Dnah9 A T 11: 66,160,011 W152R probably damaging Het
Dnmt3a T A 12: 3,872,864 S82T probably benign Het
Ebf1 A G 11: 44,632,775 K146E probably damaging Het
Gfpt2 A C 11: 49,827,211 R504S probably damaging Het
Gpank1 T A 17: 35,124,308 S255T probably damaging Het
Greb1 T C 12: 16,682,251 M1570V probably damaging Het
Gtf2i A T 5: 134,263,624 I403K probably damaging Het
Hoxc11 T A 15: 102,954,835 C104S probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Khdrbs2 A T 1: 32,644,157 probably benign Het
Lix1l G T 3: 96,621,310 G200V probably damaging Het
Lrrc23 T C 6: 124,778,151 N141S probably damaging Het
Myo9a A T 9: 59,855,370 T795S probably benign Het
Nhsl1 T A 10: 18,525,475 D782E probably benign Het
Nptxr T C 15: 79,790,255 probably benign Het
Nrp1 A G 8: 128,468,598 M512V possibly damaging Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr1126 ATTGCTACTC A 2: 87,457,437 probably benign Het
Olfr1469 G A 19: 13,411,390 A274T probably benign Het
Pard3 T C 8: 127,378,280 F267S probably benign Het
Pomt2 G A 12: 87,147,480 T50M possibly damaging Het
Qsox2 A G 2: 26,214,125 Y298H probably damaging Het
Rabgap1 A G 2: 37,492,068 K450E possibly damaging Het
Rpa1 A T 11: 75,302,732 V591D probably damaging Het
Sall3 A C 18: 80,969,792 M1143R probably benign Het
Scgb1b19 G T 7: 33,287,343 A13S unknown Het
Scn1a T C 2: 66,337,996 T89A probably benign Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr42e1 T G 8: 117,663,584 N106T probably damaging Het
Shpk A T 11: 73,215,119 M266L probably benign Het
Slc34a1 G T 13: 55,403,033 R139L probably benign Het
Smbd1 C A 16: 32,806,718 D67Y probably damaging Het
Srd5a3 A G 5: 76,153,638 N238S probably benign Het
Tmprss2 T C 16: 97,576,262 N212D probably damaging Het
Uap1 G T 1: 170,156,911 probably benign Het
Ugt1a6a A G 1: 88,139,014 M181V probably benign Het
Vmn2r32 C T 7: 7,474,327 W355* probably null Het
Vmn2r86 T A 10: 130,446,357 S797C probably damaging Het
Wiz A G 17: 32,387,642 S40P probably damaging Het
Zfand6 A G 7: 84,615,973 probably benign Het
Zfp280d G A 9: 72,329,167 probably null Het
Other mutations in March11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:March11 APN 15 26409199 missense possibly damaging 0.93
IGL03079:March11 APN 15 26311058 missense probably damaging 1.00
R0625:March11 UTSW 15 26311043 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
X0063:March11 UTSW 15 26387893 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCCTCGAAGCTGAGCCA -3'
(R):5'- AGCTCTACCCTTGCGGTCCA -3'

Sequencing Primer
(F):5'- GAAGCTGAGCCACCTCTG -3'
(R):5'- TCCAGGTCCAGGACTCAC -3'
Posted On2014-01-05