Incidental Mutation 'R1653:Marchf3'
ID 188889
Institutional Source Beutler Lab
Gene Symbol Marchf3
Ensembl Gene ENSMUSG00000032656
Gene Name membrane associated ring-CH-type finger 3
Synonyms March3, A530081L18Rik, 6330411I15Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 56894788-57058587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56944967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 42 (M42T)
Ref Sequence ENSEMBL: ENSMUSP00000099976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035278] [ENSMUST00000102912]
AlphaFold Q8BRX9
Predicted Effect probably benign
Transcript: ENSMUST00000035278
AA Change: M42T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: M42T

DomainStartEndE-ValueType
RINGv 70 117 1.02e-19 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 182 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102912
AA Change: M42T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: M42T

DomainStartEndE-ValueType
RINGv 70 117 1.02e-19 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 182 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153044
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Marchf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:Marchf3 APN 18 56,940,753 (GRCm39) missense probably benign 0.24
R0625:Marchf3 UTSW 18 56,944,902 (GRCm39) critical splice donor site probably null
R0990:Marchf3 UTSW 18 56,940,870 (GRCm39) missense probably damaging 1.00
R1353:Marchf3 UTSW 18 56,909,177 (GRCm39) splice site probably null
R2072:Marchf3 UTSW 18 56,944,925 (GRCm39) missense possibly damaging 0.88
R4746:Marchf3 UTSW 18 56,909,144 (GRCm39) missense probably damaging 1.00
R4771:Marchf3 UTSW 18 56,916,170 (GRCm39) missense probably benign 0.19
R6956:Marchf3 UTSW 18 56,909,053 (GRCm39) missense probably benign 0.01
R7152:Marchf3 UTSW 18 56,909,053 (GRCm39) missense probably benign 0.01
R7202:Marchf3 UTSW 18 56,909,161 (GRCm39) missense probably benign 0.02
R7272:Marchf3 UTSW 18 56,895,593 (GRCm39) missense probably benign
R7813:Marchf3 UTSW 18 56,916,163 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCTACAAATTGCTTTGGCTCCG -3'
(R):5'- TGATGTTGGTGGCCCATAATTCTCC -3'

Sequencing Primer
(F):5'- cttttttttactttttttCCCAGCAC -3'
(R):5'- TTCTGATCTCTCTTAGATGGACG -3'
Posted On 2014-05-09