Incidental Mutation 'R1353:March3'
ID157122
Institutional Source Beutler Lab
Gene Symbol March3
Ensembl Gene ENSMUSG00000032656
Gene Namemembrane-associated ring finger (C3HC4) 3
Synonyms
MMRRC Submission 039418-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #R1353 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location56761716-56925548 bp(-) (GRCm38)
Type of Mutationintron (6914 bp from exon)
DNA Base Change (assembly) A to T at 56776105 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035278] [ENSMUST00000102912]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035278
AA Change: S203T

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: S203T

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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128240
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.1%
  • 20x: 86.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn2 T C 4: 66,266,335 Q175R unknown Het
Capn9 A C 8: 124,605,566 probably null Het
Car9 G T 4: 43,512,439 probably null Het
Chd7 A G 4: 8,839,556 N1364S probably damaging Het
Cmya5 A T 13: 93,041,525 V3607E probably damaging Het
Crb2 T C 2: 37,787,281 C262R probably damaging Het
Cyp2t4 A G 7: 27,156,630 N204S probably benign Het
Epha1 T C 6: 42,361,837 T676A probably damaging Het
Fancm G A 12: 65,088,170 V246M probably damaging Het
Fcrl5 T C 3: 87,448,362 S461P probably damaging Het
Gen1 A T 12: 11,243,219 L394Q probably benign Het
Gm13757 T C 2: 88,446,551 H129R probably benign Het
Hsdl2 G T 4: 59,596,971 probably null Het
Klri2 C T 6: 129,739,086 G97S probably damaging Het
Lypla2 T C 4: 135,970,467 I55V probably null Het
Malrd1 A G 2: 16,127,968 D1900G unknown Het
Map1b A G 13: 99,427,326 S2378P unknown Het
Myom2 G T 8: 15,106,424 W757L probably damaging Het
Nat10 T A 2: 103,754,073 M120L possibly damaging Het
Ncam2 T G 16: 81,200,915 M1R probably null Het
Ncoa4 G T 14: 32,170,858 G33* probably null Het
Olfr3 C A 2: 36,812,914 M59I possibly damaging Het
Olfr434 T A 6: 43,217,690 M259K probably benign Het
Olfr54 G A 11: 51,027,006 M1I probably null Het
Olfr768 C T 10: 129,093,864 V37I probably benign Het
Olfr890 A C 9: 38,143,728 I198L probably benign Het
Osbpl8 A G 10: 111,276,479 N485S probably damaging Het
Pkdrej A T 15: 85,818,918 V939E probably damaging Het
Plaa T C 4: 94,571,689 E607G possibly damaging Het
Rtel1 T A 2: 181,349,231 C285S probably benign Het
Rtl1 A C 12: 109,592,199 C1069G probably benign Het
Rtn4 C A 11: 29,707,595 A583E probably damaging Het
Runx1 T A 16: 92,689,051 R32* probably null Het
Sdcbp A G 4: 6,381,057 I67M probably damaging Het
Slc22a12 G C 19: 6,537,782 L259V possibly damaging Het
Sptlc2 A G 12: 87,341,746 S321P probably damaging Het
Tmem30c C T 16: 57,277,665 G131D probably damaging Het
Tnfaip2 A T 12: 111,444,969 Q9L probably damaging Het
Ttn T C 2: 76,746,566 Y24661C probably damaging Het
Vmn2r77 T G 7: 86,802,186 F427V probably benign Het
Zcchc4 A G 5: 52,807,077 I292V probably benign Het
Zfp354b A T 11: 50,923,413 H228Q probably damaging Het
Zfp84 T A 7: 29,776,175 N97K probably benign Het
Zfp976 T C 7: 42,616,018 D49G probably damaging Het
Zgrf1 C T 3: 127,611,803 T1550I 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
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
R6956:March3 UTSW 18 56775981 missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- TGTGGTAACATGGCTCCAGATGTTC -3'
(R):5'- ACACCCAGCACTCAGTTGCTTG -3'

Sequencing Primer
(F):5'- ACATGGCTCCAGATGTTCTTAGAC -3'
(R):5'- ACTCAGTTGCTTGCTGGAGAC -3'
Posted On2014-02-11