Incidental Mutation 'R4963:Marchf8'
ID 383713
Institutional Source Beutler Lab
Gene Symbol Marchf8
Ensembl Gene ENSMUSG00000025702
Gene Name membrane associated ring-CH-type finger 8
Synonyms March8, 1300017E09Rik, Mir
MMRRC Submission 042560-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4963 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 116314985-116386501 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 116363232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079012] [ENSMUST00000101032] [ENSMUST00000123405] [ENSMUST00000135901] [ENSMUST00000140884] [ENSMUST00000204657] [ENSMUST00000203193] [ENSMUST00000203116]
AlphaFold Q9DBD2
Predicted Effect probably benign
Transcript: ENSMUST00000079012
SMART Domains Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
RINGv 75 123 1.16e-23 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101032
SMART Domains Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
RINGv 75 123 1.16e-23 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123246
Predicted Effect probably benign
Transcript: ENSMUST00000123405
SMART Domains Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
low complexity region 258 270 N/A INTRINSIC
RINGv 357 405 2.4e-25 SMART
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 475 497 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130445
Predicted Effect probably benign
Transcript: ENSMUST00000135901
SMART Domains Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 43 60 N/A INTRINSIC
RINGv 71 119 1.16e-23 SMART
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 184 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140884
SMART Domains Protein: ENSMUSP00000145060
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204657
SMART Domains Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
RINGv 75 123 2.9e-26 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203193
SMART Domains Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
RINGv 36 84 2.9e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 149 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205183
Predicted Effect probably benign
Transcript: ENSMUST00000203116
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the membrane-associated really interesting new gene-CH family of proteins. These proteins are E3 ubiquitin-protein ligases that modulate antigen presentation by downregulating major histocompatibility complex class II surface expression through endocytosis. The transcript is primarily expressed by dendritic cells and macrophages. Overexpression of this gene in antigen presenting cells results in immune defective phenotypes, including resistance to autoimmune disease onset. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal CD4+ T cell compartment in the thymus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,470,582 (GRCm39) I133N probably benign Het
Abca15 T C 7: 119,960,142 (GRCm39) S642P probably damaging Het
Abcg5 G T 17: 84,967,569 (GRCm39) Y410* probably null Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ank2 G A 3: 126,825,745 (GRCm39) T418M probably benign Het
Arhgap17 T C 7: 122,907,583 (GRCm39) R260G possibly damaging Het
Atp1a3 T C 7: 24,694,051 (GRCm39) T381A probably damaging Het
Cep89 T G 7: 35,102,577 (GRCm39) S97A probably benign Het
Cyp2j11 T C 4: 96,204,619 (GRCm39) D309G probably damaging Het
Dcbld2 T C 16: 58,286,145 (GRCm39) I768T probably benign Het
Defa41 C T 8: 21,691,774 (GRCm39) S52F probably damaging Het
Dgke A G 11: 88,941,628 (GRCm39) V249A possibly damaging Het
Dnah9 T C 11: 65,975,437 (GRCm39) probably null Het
Dnajc3 C A 14: 119,215,585 (GRCm39) H502N probably benign Het
Dsp A G 13: 38,381,846 (GRCm39) T2265A probably damaging Het
Enpp6 A G 8: 47,518,496 (GRCm39) D208G probably benign Het
Evc C T 5: 37,479,393 (GRCm39) probably null Het
Fam98a A G 17: 75,845,977 (GRCm39) S285P probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gsdmc A G 15: 63,676,229 (GRCm39) probably null Het
Gtpbp4 C A 13: 9,035,253 (GRCm39) D369Y probably damaging Het
H2-M1 A G 17: 36,982,630 (GRCm39) Y77H probably benign Het
Irx2 T C 13: 72,780,729 (GRCm39) V466A possibly damaging Het
Kcnh4 C A 11: 100,643,079 (GRCm39) W396L probably damaging Het
Kif27 T C 13: 58,476,808 (GRCm39) D614G possibly damaging Het
Kirrel2 C A 7: 30,150,226 (GRCm39) probably null Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Ldb3 T G 14: 34,288,815 (GRCm39) S252R probably damaging Het
Mdn1 C A 4: 32,756,512 (GRCm39) Q4735K probably benign Het
Mfrp A T 9: 44,014,561 (GRCm39) H236L probably benign Het
Mlph A G 1: 90,867,112 (GRCm39) D378G probably damaging Het
Msi1 T A 5: 115,588,944 (GRCm39) Y320N probably damaging Het
Mtmr11 T C 3: 96,070,567 (GRCm39) probably benign Het
Mtpap T C 18: 4,375,638 (GRCm39) V6A probably benign Het
Nedd1 C A 10: 92,530,893 (GRCm39) D399Y probably damaging Het
Ninl A G 2: 150,781,829 (GRCm39) Y234H probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nle1 A G 11: 82,795,763 (GRCm39) V228A probably benign Het
Npy4r T A 14: 33,868,973 (GRCm39) D105V probably damaging Het
Or1f12 A G 13: 21,722,152 (GRCm39) Y8H probably damaging Het
Palld C T 8: 62,156,244 (GRCm39) V464M probably damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Pex1 T A 5: 3,659,924 (GRCm39) M476K probably benign Het
Pkhd1l1 G A 15: 44,367,421 (GRCm39) S773N probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prmt9 A G 8: 78,282,358 (GRCm39) D85G probably damaging Het
Ptpn12 T A 5: 21,220,706 (GRCm39) probably null Het
Rbm19 T A 5: 120,279,631 (GRCm39) M766K probably damaging Het
Rdh11 A G 12: 79,235,380 (GRCm39) V72A probably benign Het
Rxfp3 A G 15: 11,036,367 (GRCm39) V335A probably damaging Het
Sema6a T C 18: 47,431,318 (GRCm39) K127E possibly damaging Het
Slc5a1 C T 5: 33,318,126 (GRCm39) T593I probably benign Het
Slco1a1 A G 6: 141,868,825 (GRCm39) F380L probably benign Het
Smc2 T C 4: 52,450,826 (GRCm39) S215P probably damaging Het
Smyd2 A T 1: 189,614,385 (GRCm39) V381E probably damaging Het
Smyd4 C T 11: 75,273,120 (GRCm39) S60L probably benign Het
Spata18 T A 5: 73,836,336 (GRCm39) V419E probably damaging Het
Terb1 A G 8: 105,208,950 (GRCm39) L376S probably damaging Het
Timd2 T C 11: 46,573,617 (GRCm39) E129G possibly damaging Het
Topbp1 C A 9: 103,197,804 (GRCm39) T461K probably benign Het
Tpp2 G A 1: 44,031,428 (GRCm39) R1069Q probably damaging Het
Ttn A G 2: 76,584,289 (GRCm39) V22273A probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Uqcrfs1 A T 13: 30,724,746 (GRCm39) F265I probably damaging Het
Vmn2r107 A T 17: 20,595,403 (GRCm39) Q652L probably damaging Het
Vwf C T 6: 125,644,446 (GRCm39) R2434* probably null Het
Wdhd1 A G 14: 47,506,146 (GRCm39) V256A possibly damaging Het
Zfp442 A T 2: 150,250,415 (GRCm39) C439S probably damaging Het
Zfp709 A G 8: 72,643,632 (GRCm39) T354A probably benign Het
Zswim2 A T 2: 83,755,454 (GRCm39) I149N probably damaging Het
Other mutations in Marchf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Marchf8 APN 6 116,380,499 (GRCm39) missense probably damaging 1.00
strider UTSW 6 116,379,004 (GRCm39) missense probably benign
R0828:Marchf8 UTSW 6 116,382,639 (GRCm39) missense probably benign 0.36
R2869:Marchf8 UTSW 6 116,378,106 (GRCm39) intron probably benign
R2870:Marchf8 UTSW 6 116,378,106 (GRCm39) intron probably benign
R5617:Marchf8 UTSW 6 116,380,481 (GRCm39) missense possibly damaging 0.55
R6329:Marchf8 UTSW 6 116,383,277 (GRCm39) missense possibly damaging 0.78
R6361:Marchf8 UTSW 6 116,379,062 (GRCm39) missense probably null 1.00
R6615:Marchf8 UTSW 6 116,382,624 (GRCm39) missense probably damaging 1.00
R6771:Marchf8 UTSW 6 116,379,004 (GRCm39) missense probably benign
R7014:Marchf8 UTSW 6 116,380,505 (GRCm39) missense probably damaging 1.00
R7014:Marchf8 UTSW 6 116,380,504 (GRCm39) missense probably damaging 1.00
R7249:Marchf8 UTSW 6 116,383,195 (GRCm39) missense probably benign 0.17
R7558:Marchf8 UTSW 6 116,380,526 (GRCm39) missense possibly damaging 0.89
R8218:Marchf8 UTSW 6 116,315,059 (GRCm39) start gained probably benign
R8671:Marchf8 UTSW 6 116,378,815 (GRCm39) missense probably benign 0.00
R9072:Marchf8 UTSW 6 116,378,884 (GRCm39) missense probably benign 0.00
R9073:Marchf8 UTSW 6 116,378,884 (GRCm39) missense probably benign 0.00
R9570:Marchf8 UTSW 6 116,382,639 (GRCm39) missense probably benign 0.36
R9571:Marchf8 UTSW 6 116,383,237 (GRCm39) missense probably benign 0.05
R9632:Marchf8 UTSW 6 116,378,405 (GRCm39) missense possibly damaging 0.64
R9710:Marchf8 UTSW 6 116,378,405 (GRCm39) missense possibly damaging 0.64
R9733:Marchf8 UTSW 6 116,378,990 (GRCm39) missense probably damaging 1.00
Z1177:Marchf8 UTSW 6 116,315,233 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCAGCTGGAGGAAGTAGTTAGTCC -3'
(R):5'- CAATGCTAATATGGCCTGCAAG -3'

Sequencing Primer
(F):5'- GGAATGTTGCACTCAAGTCC -3'
(R):5'- ATGGCCTGCAAGATTACTGC -3'
Posted On 2016-04-27