Incidental Mutation 'IGL02637:Marchf5'
ID 301580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marchf5
Ensembl Gene ENSMUSG00000023307
Gene Name membrane associated ring-CH-type finger 5
Synonyms 2310008I22Rik, MARCH-V, 2700055A20Rik, E130202O05Rik, March5, 5730499H23Rik, Rnf153, MITOL, 1810015H18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02637
Quality Score
Status
Chromosome 19
Chromosomal Location 37184942-37199550 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 37198033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024078] [ENSMUST00000112391]
AlphaFold Q3KNM2
Predicted Effect probably benign
Transcript: ENSMUST00000024078
SMART Domains Protein: ENSMUSP00000024078
Gene: ENSMUSG00000023307

DomainStartEndE-ValueType
RINGv 13 69 3.53e-23 SMART
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 209 228 N/A INTRINSIC
transmembrane domain 238 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112391
SMART Domains Protein: ENSMUSP00000108010
Gene: ENSMUSG00000023307

DomainStartEndE-ValueType
RINGv 13 69 3.53e-23 SMART
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 209 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128530
SMART Domains Protein: ENSMUSP00000118920
Gene: ENSMUSG00000023307

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 118 137 N/A INTRINSIC
transmembrane domain 147 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148105
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,309,907 (GRCm39) Y435C probably damaging Het
Adgrb1 C T 15: 74,460,143 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,199 (GRCm39) probably benign Het
Camk1g G A 1: 193,030,696 (GRCm39) P338S probably benign Het
Cog3 T C 14: 75,959,636 (GRCm39) probably benign Het
Crat A G 2: 30,296,401 (GRCm39) V355A probably benign Het
Ctla2a T A 13: 61,083,899 (GRCm39) probably benign Het
Dnaaf9 C A 2: 130,656,227 (GRCm39) probably benign Het
Efhb A G 17: 53,756,580 (GRCm39) I357T probably benign Het
Fh1 T C 1: 175,437,332 (GRCm39) M256V probably benign Het
Gabrg3 A G 7: 56,384,775 (GRCm39) I262T probably damaging Het
Gata2 C T 6: 88,181,558 (GRCm39) probably benign Het
Gm6356 A G 14: 6,970,926 (GRCm38) V178A possibly damaging Het
Hacl1 T C 14: 31,362,458 (GRCm39) E63G probably damaging Het
Hid1 A T 11: 115,241,421 (GRCm39) I623N probably damaging Het
Hivep2 A G 10: 14,006,452 (GRCm39) K1017E possibly damaging Het
Ifi208 C T 1: 173,506,508 (GRCm39) T97I probably benign Het
Ighg1 T C 12: 113,293,132 (GRCm39) H186R unknown Het
Igkv8-26 T C 6: 70,170,642 (GRCm39) S78P probably damaging Het
Itih3 T C 14: 30,637,617 (GRCm39) N514S probably benign Het
Kcnj16 A T 11: 110,916,439 (GRCm39) D367V probably benign Het
Klhl23 A T 2: 69,659,258 (GRCm39) R428* probably null Het
Lgmn T C 12: 102,366,485 (GRCm39) E216G probably damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp5 C T 19: 3,680,269 (GRCm39) G405D probably benign Het
Lrrc74a C T 12: 86,788,521 (GRCm39) R53* probably null Het
Lsm12 G A 11: 102,054,948 (GRCm39) R123C probably benign Het
Mark3 C A 12: 111,559,090 (GRCm39) A44D probably damaging Het
Mndal T A 1: 173,685,003 (GRCm39) N522I possibly damaging Het
Nbeal2 G T 9: 110,455,045 (GRCm39) R2611S possibly damaging Het
Nlrp4d T C 7: 10,116,482 (GRCm39) noncoding transcript Het
Npnt T A 3: 132,590,271 (GRCm39) I507F possibly damaging Het
Or51a7 G A 7: 102,622,250 (GRCm39) probably benign Het
Pde4a T A 9: 21,112,628 (GRCm39) L91Q probably damaging Het
Pdzd2 C T 15: 12,385,720 (GRCm39) V1017M probably benign Het
Pkhd1l1 A G 15: 44,427,720 (GRCm39) N3259S probably damaging Het
Plxnb2 A T 15: 89,048,260 (GRCm39) H683Q possibly damaging Het
Reck T A 4: 43,898,009 (GRCm39) S96T probably damaging Het
Rnf135 A G 11: 80,089,704 (GRCm39) K347E probably benign Het
Ro60 A G 1: 143,646,526 (GRCm39) V73A probably damaging Het
Rxfp2 A G 5: 149,979,378 (GRCm39) D246G probably damaging Het
Sdk1 C T 5: 142,080,327 (GRCm39) T1273I probably damaging Het
Slc12a8 A T 16: 33,355,330 (GRCm39) M49L probably benign Het
Slc5a11 A T 7: 122,859,728 (GRCm39) probably null Het
Surf2 A G 2: 26,809,790 (GRCm39) K247E probably damaging Het
Sys1 G A 2: 164,303,312 (GRCm39) V9M possibly damaging Het
Tcf4 G A 18: 69,480,421 (GRCm39) D18N probably damaging Het
Tmc6 A T 11: 117,658,416 (GRCm39) V773D possibly damaging Het
Trappc13 T C 13: 104,286,570 (GRCm39) Q229R probably benign Het
Xkr5 T C 8: 18,984,099 (GRCm39) E481G probably benign Het
Xpo5 C A 17: 46,546,905 (GRCm39) D885E probably damaging Het
Other mutations in Marchf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Marchf5 APN 19 37,194,624 (GRCm39) missense probably benign 0.00
IGL01537:Marchf5 APN 19 37,188,067 (GRCm39) unclassified probably benign
IGL02142:Marchf5 APN 19 37,197,892 (GRCm39) splice site probably benign
IGL02469:Marchf5 APN 19 37,194,674 (GRCm39) missense probably damaging 1.00
volatile UTSW 19 37,194,713 (GRCm39) critical splice donor site probably null
R0635:Marchf5 UTSW 19 37,197,807 (GRCm39) missense possibly damaging 0.52
R4573:Marchf5 UTSW 19 37,197,793 (GRCm39) missense probably damaging 0.99
R5073:Marchf5 UTSW 19 37,188,207 (GRCm39) missense possibly damaging 0.95
R6198:Marchf5 UTSW 19 37,188,140 (GRCm39) missense probably damaging 1.00
R6264:Marchf5 UTSW 19 37,198,140 (GRCm39) missense probably damaging 0.99
R7232:Marchf5 UTSW 19 37,194,713 (GRCm39) critical splice donor site probably null
R7716:Marchf5 UTSW 19 37,197,822 (GRCm39) missense probably benign 0.08
R8217:Marchf5 UTSW 19 37,185,210 (GRCm39) unclassified probably benign
R9354:Marchf5 UTSW 19 37,185,264 (GRCm39) unclassified probably benign
Posted On 2015-04-16