Incidental Mutation 'R5812:Marchf4'
ID 447539
Institutional Source Beutler Lab
Gene Symbol Marchf4
Ensembl Gene ENSMUSG00000039372
Gene Name membrane associated ring-CH-type finger 4
Synonyms March4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R5812 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 72466271-72576089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72468076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 319 (T319A)
Ref Sequence ENSEMBL: ENSMUSP00000042803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047786]
AlphaFold Q80TE3
Predicted Effect probably benign
Transcript: ENSMUST00000047786
AA Change: T319A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042803
Gene: ENSMUSG00000039372
AA Change: T319A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 52 62 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
low complexity region 102 112 N/A INTRINSIC
low complexity region 125 135 N/A INTRINSIC
RINGv 161 208 3.5e-18 SMART
transmembrane domain 235 257 N/A INTRINSIC
Blast:AAA 263 290 4e-9 BLAST
low complexity region 344 360 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,882,299 (GRCm39) S9P probably damaging Het
Aadacl2fm2 T A 3: 59,654,693 (GRCm39) Y176N probably damaging Het
Acsl5 G A 19: 55,283,268 (GRCm39) V615I probably benign Het
Ankk1 T C 9: 49,338,153 (GRCm39) K47E probably benign Het
Ankrd11 A T 8: 123,620,544 (GRCm39) probably null Het
Bcl9l T C 9: 44,417,941 (GRCm39) V593A probably benign Het
Cadps T C 14: 12,376,685 (GRCm38) I1271V probably benign Het
Ccdc125 T C 13: 100,820,812 (GRCm39) W152R probably damaging Het
Cep192 T C 18: 67,984,808 (GRCm39) V1606A possibly damaging Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cxxc5 T A 18: 35,992,109 (GRCm39) V170E probably damaging Het
Defb6 C T 8: 19,278,110 (GRCm39) R61C possibly damaging Het
Dnah10 T A 5: 124,824,810 (GRCm39) N655K probably benign Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Gli1 C T 10: 127,173,284 (GRCm39) G125S probably damaging Het
Igkv14-126 A T 6: 67,873,424 (GRCm39) I51F possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jtb T C 3: 90,141,284 (GRCm39) S87P probably benign Het
Kdm6b A T 11: 69,296,755 (GRCm39) I504N probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Nt5e T C 9: 88,251,108 (GRCm39) V459A probably damaging Het
Ogdhl A G 14: 32,054,822 (GRCm39) K257E probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2g25 A G 17: 37,970,630 (GRCm39) L198P probably damaging Het
Osmr A T 15: 6,866,540 (GRCm39) V378D probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pdzd7 G T 19: 45,025,310 (GRCm39) T395K probably damaging Het
Rasgef1c A G 11: 49,847,970 (GRCm39) D35G probably benign Het
Rbm19 T C 5: 120,279,642 (GRCm39) F770L probably damaging Het
Rit2 C A 18: 31,108,514 (GRCm39) C157F probably damaging Het
Slc22a22 A G 15: 57,119,869 (GRCm39) probably null Het
Slc8b1 T C 5: 120,651,403 (GRCm39) probably null Het
Speer2 C A 16: 69,655,783 (GRCm39) R14S possibly damaging Het
Tas2r105 C A 6: 131,663,836 (GRCm39) L197F possibly damaging Het
Tmprss11b T A 5: 86,812,957 (GRCm39) H113L possibly damaging Het
Ttbk2 G A 2: 120,653,040 (GRCm39) P64S probably damaging Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vps13c T A 9: 67,889,777 (GRCm39) probably benign Het
Zbtb39 T A 10: 127,577,429 (GRCm39) M1K probably null Het
Other mutations in Marchf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Marchf4 APN 1 72,491,690 (GRCm39) nonsense probably null
IGL02996:Marchf4 APN 1 72,468,058 (GRCm39) nonsense probably null
R0245:Marchf4 UTSW 1 72,573,940 (GRCm39) missense probably benign 0.00
R2865:Marchf4 UTSW 1 72,491,734 (GRCm39) missense probably damaging 1.00
R4386:Marchf4 UTSW 1 72,467,973 (GRCm39) missense probably benign 0.00
R4917:Marchf4 UTSW 1 72,467,938 (GRCm39) missense probably benign 0.27
R4918:Marchf4 UTSW 1 72,467,938 (GRCm39) missense probably benign 0.27
R6266:Marchf4 UTSW 1 72,491,647 (GRCm39) missense probably damaging 1.00
R7247:Marchf4 UTSW 1 72,491,637 (GRCm39) nonsense probably null
R7619:Marchf4 UTSW 1 72,574,148 (GRCm39) missense possibly damaging 0.89
R7643:Marchf4 UTSW 1 72,486,379 (GRCm39) missense probably damaging 1.00
R8176:Marchf4 UTSW 1 72,573,998 (GRCm39) missense probably damaging 0.96
R8928:Marchf4 UTSW 1 72,574,035 (GRCm39) missense probably benign 0.01
Z1176:Marchf4 UTSW 1 72,491,659 (GRCm39) missense probably damaging 1.00
Z1177:Marchf4 UTSW 1 72,468,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCTCAAGTGACTCAGGATGTG -3'
(R):5'- AGTGCCCGTGTCTGTGTAAG -3'

Sequencing Primer
(F):5'- TCAAGTGACTCAGGATGTGTAGGATG -3'
(R):5'- GCCCGTGTCTGTGTAAGTTAAG -3'
Posted On 2016-12-15