Incidental Mutation 'R6956:March3'
ID 541482
Institutional Source Beutler Lab
Gene Symbol March3
Ensembl Gene ENSMUSG00000032656
Gene Name membrane-associated ring finger (C3HC4) 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock # R6956 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 56761716-56925548 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56775981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 244 (V244A)
Ref Sequence ENSEMBL: ENSMUSP00000047946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035278] [ENSMUST00000102912]
AlphaFold Q8BRX9
Predicted Effect probably benign
Transcript: ENSMUST00000035278
AA Change: V244A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: V244A

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
SMART Domains Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656

DomainStartEndE-ValueType
RINGv 70 117 1.02e-19 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 182 201 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921530L21Rik T A 14: 95,882,433 W209R probably damaging Het
Aars G A 8: 111,055,130 V945M probably benign Het
Amotl2 A G 9: 102,724,768 T371A probably damaging Het
Bmpr1a A G 14: 34,441,175 I86T possibly damaging Het
C9 A T 15: 6,445,464 M35L probably benign Het
Cc2d1a G T 8: 84,135,899 P661T probably damaging Het
Dcdc2a T A 13: 25,119,366 S293R probably benign Het
Dchs2 T A 3: 83,353,926 N2500K probably benign Het
Dicer1 A G 12: 104,731,023 S92P probably damaging Het
Dnah7a T A 1: 53,577,287 I1172F probably benign Het
Dnajc6 A G 4: 101,614,273 S364G probably damaging Het
Dpp6 A T 5: 27,598,821 N255I probably damaging Het
Eif2ak4 T C 2: 118,422,267 I440T probably damaging Het
Fam155a T A 8: 9,770,744 Q92L probably benign Het
Fam184b T C 5: 45,530,757 T937A probably damaging Het
Fam229b T A 10: 39,133,847 probably null Het
Gbp11 A G 5: 105,328,375 probably null Het
Gipc2 A G 3: 152,094,248 F282L probably benign Het
Gm4858 T C 3: 93,073,972 V25A possibly damaging Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
H2-T3 T A 17: 36,189,371 Y144F probably damaging Het
Kel T G 6: 41,687,973 D7A probably damaging Het
Lrrc7 A G 3: 158,289,031 V166A probably benign Het
Mapt T C 11: 104,318,255 probably null Het
Mboat1 T C 13: 30,238,076 V396A possibly damaging Het
Mphosph9 T C 5: 124,297,558 D604G probably damaging Het
Muc16 T C 9: 18,645,026 T3324A unknown Het
Nat10 T C 2: 103,734,412 I495V probably benign Het
Olfr784 A T 10: 129,388,297 K221N probably benign Het
Pfkfb2 T C 1: 130,707,600 N75D probably damaging Het
Psmd3 T A 11: 98,695,551 L515Q probably damaging Het
Rpgrip1l A C 8: 91,286,313 probably null Het
Scube1 T C 15: 83,721,876 Y65C probably damaging Het
Slc12a4 A G 8: 105,953,852 F211L probably damaging Het
Socs7 T C 11: 97,377,023 S327P probably benign Het
Spef2 A T 15: 9,684,935 D591E probably damaging Het
Sult2a6 T A 7: 14,254,823 D4V possibly damaging Het
Tdrd9 A G 12: 112,036,354 probably benign Het
Tgm4 G T 9: 123,064,703 M155I possibly damaging Het
Togaram2 T C 17: 71,729,188 V891A probably benign Het
Usp1 A G 4: 98,931,006 E235G probably damaging Het
Usp2 T A 9: 44,092,756 V533E probably damaging Het
Vcan T A 13: 89,689,431 I2665F probably damaging Het
Vmn2r31 G A 7: 7,394,506 S251L probably benign Het
Vmn2r84 C A 10: 130,389,267 C458F probably damaging Het
Other mutations in March3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:March3 APN 18 56807681 missense probably benign 0.24
R0625:March3 UTSW 18 56811830 critical splice donor site probably null
R0990:March3 UTSW 18 56807798 missense probably damaging 1.00
R1353:March3 UTSW 18 56776105 splice site probably null
R1653:March3 UTSW 18 56811895 missense probably benign 0.00
R2072:March3 UTSW 18 56811853 missense possibly damaging 0.88
R4746:March3 UTSW 18 56776072 missense probably damaging 1.00
R4771:March3 UTSW 18 56783098 missense probably benign 0.19
R7152:March3 UTSW 18 56775981 missense probably benign 0.01
R7202:March3 UTSW 18 56776089 missense probably benign 0.02
R7272:March3 UTSW 18 56762521 missense probably benign
R7813:March3 UTSW 18 56783091 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCTCACTCAGGCAATGTGG -3'
(R):5'- GTCCCAGTCCTGTGTTTAAATG -3'

Sequencing Primer
(F):5'- GGTAACATGGCTCCAGATGTTC -3'
(R):5'- GAATTGGCTGCCAACCTCTG -3'
Posted On 2018-11-28