Incidental Mutation 'R8217:Marchf5'
ID 656451
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 067658-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8217 (G1)
Quality Score 75.0075
Status Validated
Chromosome 19
Chromosomal Location 37184942-37199550 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 37185210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024078] [ENSMUST00000079754] [ENSMUST00000112391] [ENSMUST00000126188] [ENSMUST00000126781] [ENSMUST00000131917] [ENSMUST00000132580] [ENSMUST00000136286]
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: ENSMUST00000079754
SMART Domains Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 410 420 N/A INTRINSIC
RRM 460 532 2.01e-5 SMART
RRM 568 641 1e-2 SMART
PDB:2M13|A 642 707 1e-6 PDB
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: ENSMUST00000126188
SMART Domains Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RRM 437 509 2.01e-5 SMART
RRM 545 618 1e-2 SMART
PDB:2M13|A 619 684 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000126781
SMART Domains Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RRM 437 509 8.3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131917
SMART Domains Protein: ENSMUSP00000123080
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132580
SMART Domains Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 410 420 N/A INTRINSIC
RRM 460 532 2.01e-5 SMART
RRM 568 641 1e-2 SMART
PDB:2M13|A 642 707 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000136286
SMART Domains Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
RRM 443 515 2.01e-5 SMART
RRM 551 624 1e-2 SMART
PDB:2M13|A 625 690 1e-6 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,037,921 (GRCm39) L406P probably damaging Het
Aph1b T C 9: 66,686,554 (GRCm39) K239E possibly damaging Het
Atp13a4 C A 16: 29,222,619 (GRCm39) V1102F Het
B3gat1 G A 9: 26,668,165 (GRCm39) A265T probably damaging Het
Bod1l T C 5: 41,988,850 (GRCm39) E419G probably damaging Het
Ccdc142 T C 6: 83,080,197 (GRCm39) L380P probably damaging Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cfi A C 3: 129,648,650 (GRCm39) N178T possibly damaging Het
Col5a1 T A 2: 27,812,135 (GRCm39) D72E unknown Het
Cspg4 T A 9: 56,797,637 (GRCm39) V1367D possibly damaging Het
D5Ertd579e A C 5: 36,771,402 (GRCm39) S998A probably benign Het
Ehf T C 2: 103,109,976 (GRCm39) E77G possibly damaging Het
Erap1 T C 13: 74,820,937 (GRCm39) I662T probably benign Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Klhl8 A G 5: 104,015,466 (GRCm39) V486A possibly damaging Het
Lrrc72 A T 12: 36,258,676 (GRCm39) D60E probably damaging Het
Mtmr12 T C 15: 12,259,726 (GRCm39) I365T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nod2 A C 8: 89,390,785 (GRCm39) D364A probably benign Het
Numa1 T A 7: 101,641,876 (GRCm39) M108K possibly damaging Het
Nutm2 G T 13: 50,623,759 (GRCm39) R152L probably benign Het
Or14c43 A G 7: 86,115,390 (GRCm39) Y257C probably damaging Het
Or2t46 A T 11: 58,471,792 (GRCm39) M41L probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pak1ip1 T A 13: 41,166,126 (GRCm39) S350R probably benign Het
Pcdha3 T C 18: 37,079,974 (GRCm39) F239L probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkm C T 9: 59,586,092 (GRCm39) T524I possibly damaging Het
Plekhg2 T A 7: 28,067,717 (GRCm39) Q245L probably null Het
Pola2 T A 19: 6,013,855 (GRCm39) K26N possibly damaging Het
Prune2 G T 19: 17,097,480 (GRCm39) A995S probably benign Het
Rap2b C A 3: 61,272,551 (GRCm39) T25K possibly damaging Het
Scrib A G 15: 75,939,004 (GRCm39) S165P probably damaging Het
Sdk1 A T 5: 142,197,713 (GRCm39) H2122L possibly damaging Het
Sec24b A T 3: 129,834,599 (GRCm39) F200I possibly damaging Het
Sh3rf1 T C 8: 61,782,964 (GRCm39) V226A possibly damaging Het
Sik1 T A 17: 32,070,286 (GRCm39) H141L probably damaging Het
Slc9a5 A T 8: 106,089,956 (GRCm39) E638V probably damaging Het
Slco1a5 A G 6: 142,221,202 (GRCm39) C15R probably benign Het
Slit1 C T 19: 41,612,959 (GRCm39) D854N possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tec A T 5: 72,921,602 (GRCm39) M372K probably benign Het
Tlr2 A G 3: 83,745,373 (GRCm39) F237L probably benign Het
Trio A T 15: 27,819,055 (GRCm39) L1597Q probably damaging Het
Trpa1 A T 1: 14,957,247 (GRCm39) M723K probably damaging Het
Ttc21a T C 9: 119,783,694 (GRCm39) I592T probably benign Het
Vmn2r94 T C 17: 18,463,986 (GRCm39) E768G probably damaging Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zpld1 A G 16: 55,047,295 (GRCm39) probably null 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
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
R9354:Marchf5 UTSW 19 37,185,264 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCGACTCTTACCTCACAGAG -3'
(R):5'- AAGTCTACGACCCTGACCTC -3'

Sequencing Primer
(F):5'- TCCATGGACCGGAACCCTG -3'
(R):5'- AAACTCAGAGCCCTTTTCCCGG -3'
Posted On 2020-11-18