Incidental Mutation 'R7232:Marchf5'
ID 562597
Institutional Source Beutler Lab
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
MMRRC Submission 045303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R7232 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37184942-37199550 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 37194713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024078] [ENSMUST00000112391]
AlphaFold Q3KNM2
Predicted Effect probably null
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 null
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 null
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
Meta Mutation Damage Score 0.9591 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik G A 7: 40,642,603 (GRCm39) G91S probably damaging Het
Adam21 T G 12: 81,607,330 (GRCm39) N144T probably damaging Het
Adgrg7 T C 16: 56,597,515 (GRCm39) probably null Het
Angpt4 T C 2: 151,771,460 (GRCm39) S259P possibly damaging Het
Aqr A C 2: 113,936,363 (GRCm39) L1320R probably damaging Het
Arhgef10 G A 8: 14,990,323 (GRCm39) G266D probably benign Het
Bop1 A G 15: 76,337,546 (GRCm39) V693A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdc5l A G 17: 45,738,863 (GRCm39) probably null Het
Cfap46 C A 7: 139,197,493 (GRCm39) R2126L unknown Het
Chek2 T C 5: 111,008,781 (GRCm39) V304A probably damaging Het
Cntnap4 T A 8: 113,391,731 (GRCm39) probably null Het
Ctps1 C A 4: 120,405,321 (GRCm39) G374C probably damaging Het
Defa27 A T 8: 21,805,625 (GRCm39) I22F probably damaging Het
Dnah14 T C 1: 181,584,928 (GRCm39) S3220P probably damaging Het
Dop1b T G 16: 93,557,373 (GRCm39) probably null Het
Dpysl5 G A 5: 30,949,642 (GRCm39) V471I probably benign Het
Duoxa1 T A 2: 122,135,728 (GRCm39) I124F probably damaging Het
Eif4enif1 A G 11: 3,165,678 (GRCm39) E85G possibly damaging Het
Eogt T A 6: 97,096,944 (GRCm39) I355F probably damaging Het
Epha7 T A 4: 28,951,279 (GRCm39) V800E probably damaging Het
Evi5l A G 8: 4,255,906 (GRCm39) Q633R possibly damaging Het
Fam170a T C 18: 50,414,728 (GRCm39) Y125H probably damaging Het
Fbxo15 T C 18: 84,980,747 (GRCm39) Y241H probably damaging Het
Gbe1 T C 16: 70,233,828 (GRCm39) I235T possibly damaging Het
Gfra3 C T 18: 34,844,234 (GRCm39) R102Q probably damaging Het
Gjd4 C T 18: 9,280,380 (GRCm39) G233S probably damaging Het
Gm29106 C T 1: 118,127,291 (GRCm39) P328S probably damaging Het
Hgfac G T 5: 35,204,258 (GRCm39) R507L probably damaging Het
Jakmip3 A G 7: 138,609,355 (GRCm39) K153R probably benign Het
Kcnc1 T A 7: 46,077,383 (GRCm39) V395E probably damaging Het
Krt6b T C 15: 101,586,577 (GRCm39) D304G probably damaging Het
Ldha T C 7: 46,500,323 (GRCm39) Y174H probably benign Het
Lgi4 G A 7: 30,766,776 (GRCm39) V268M possibly damaging Het
Lpar3 T G 3: 145,947,061 (GRCm39) probably null Het
Lrp3 T C 7: 34,905,477 (GRCm39) D103G probably damaging Het
Muc5b A T 7: 141,419,866 (GRCm39) H4115L possibly damaging Het
Myh13 G A 11: 67,239,672 (GRCm39) D741N probably damaging Het
Naglu A T 11: 100,967,252 (GRCm39) I401F probably damaging Het
Ncam2 T A 16: 81,309,759 (GRCm39) N416K probably damaging Het
Ncan A G 8: 70,564,738 (GRCm39) L292S probably damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l A T 19: 5,553,659 (GRCm39) S41T possibly damaging Het
Onecut2 T A 18: 64,474,633 (GRCm39) W395R probably damaging Het
Or10a2 T A 7: 106,673,062 (GRCm39) I9K probably benign Het
Pak6 T A 2: 118,524,003 (GRCm39) V386E probably damaging Het
Pias2 A G 18: 77,220,931 (GRCm39) S396G probably benign Het
Plxna2 T A 1: 194,394,568 (GRCm39) L483H probably damaging Het
Prss36 G T 7: 127,534,763 (GRCm39) R484S probably benign Het
Ptpn21 A T 12: 98,654,996 (GRCm39) V657E probably benign Het
Rassf2 T C 2: 131,838,332 (GRCm39) E318G probably damaging Het
Rp1 A C 1: 4,298,824 (GRCm39) S623A unknown Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn11a T A 9: 119,588,982 (GRCm39) E1308V probably damaging Het
Serpina3c A T 12: 104,115,771 (GRCm39) S258T possibly damaging Het
Slit3 A G 11: 35,501,516 (GRCm39) T417A possibly damaging Het
Sostdc1 C A 12: 36,367,310 (GRCm39) A162E possibly damaging Het
Sox13 A T 1: 133,312,129 (GRCm39) probably null Het
Sox8 G T 17: 25,786,514 (GRCm39) S396R probably benign Het
Sult2a3 A T 7: 13,816,685 (GRCm39) F164L possibly damaging Het
Susd2 T C 10: 75,475,685 (GRCm39) Y438C probably damaging Het
Tas2r106 T G 6: 131,655,810 (GRCm39) T14P probably damaging Het
Tcf25 T A 8: 124,127,800 (GRCm39) probably null Het
Tenm3 G A 8: 48,688,970 (GRCm39) R2206W probably damaging Het
Tep1 A G 14: 51,081,789 (GRCm39) L471P unknown Het
Ticrr A T 7: 79,343,490 (GRCm39) K1118N probably damaging Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
U2surp A G 9: 95,375,770 (GRCm39) V141A probably benign Het
Unc79 T A 12: 103,100,734 (GRCm39) S2050T possibly damaging Het
Usp13 A G 3: 32,920,020 (GRCm39) D235G probably benign Het
Vcam1 T C 3: 115,919,628 (GRCm39) T213A possibly damaging Het
Vmn2r60 T A 7: 41,786,166 (GRCm39) I323N possibly damaging Het
Vps13b A G 15: 35,877,703 (GRCm39) I2892M probably damaging Het
Wnt5a T A 14: 28,240,329 (GRCm39) S160T probably benign Het
Zar1 G A 5: 72,738,294 (GRCm39) P36L possibly damaging Het
Zfp773 A T 7: 7,135,984 (GRCm39) M204K probably benign Het
Zhx1 T C 15: 57,916,465 (GRCm39) T594A probably benign 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
IGL02637:Marchf5 APN 19 37,198,033 (GRCm39) intron probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTAAAGCCCTACCTTATGTTGAAAC -3'
(R):5'- ATGTGCATGCTATCAGGGATG -3'

Sequencing Primer
(F):5'- AGCCCTACCTTATGTTGAAACTTTTC -3'
(R):5'- GCATGCTACAGCTCATGTGTAAG -3'
Posted On 2019-06-26