Incidental Mutation 'IGL02927:March7'
ID363928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol March7
Ensembl Gene ENSMUSG00000026977
Gene Namemembrane-associated ring finger (C3HC4) 7
SynonymsAxot, Gtrgeo17
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.391) question?
Stock #IGL02927
Quality Score
Status
Chromosome2
Chromosomal Location60209887-60250676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60236918 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 594 (I594T)
Ref Sequence ENSEMBL: ENSMUSP00000099809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]
Predicted Effect probably damaging
Transcript: ENSMUST00000067542
AA Change: I594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: I594T

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 286 305 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
RINGv 553 610 2.11e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102747
AA Change: I594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: I594T

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 286 305 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
RINGv 553 610 2.11e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102748
AA Change: I594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: I594T

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 286 305 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
RINGv 553 610 2.11e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134905
Predicted Effect unknown
Transcript: ENSMUST00000142485
AA Change: I55T
SMART Domains Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
AA Change: I55T

DomainStartEndE-ValueType
RINGv 15 72 2.11e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143806
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous null mice show premature neural degeneration and defective development of the corpus callosum. Both T cell proliferation and T cell-derived leukaemia inhibitory factor are increased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,036,920 Q192* probably null Het
Actl7b C A 4: 56,740,609 D250Y probably damaging Het
Akr1a1 T A 4: 116,637,983 N273I probably damaging Het
Arhgap32 T A 9: 32,261,135 I1737N possibly damaging Het
Cant1 T C 11: 118,411,062 D143G probably benign Het
Cast T A 13: 74,736,994 D295V probably damaging Het
Cdh1 A G 8: 106,668,511 N851D probably damaging Het
Cntn1 G A 15: 92,291,680 R628H probably benign Het
Cul4a A G 8: 13,124,861 D279G possibly damaging Het
Cyp2s1 T C 7: 25,808,152 K291E probably benign Het
Dhx35 A T 2: 158,820,416 I205F probably damaging Het
Dpp8 G T 9: 65,060,269 R518L probably benign Het
Fam35a T C 14: 34,267,701 Y416C probably damaging Het
Gm9 A G X: 37,210,554 I34T possibly damaging Het
Hmcn1 A T 1: 150,577,278 C5429S probably damaging Het
Iqgap2 A C 13: 95,724,676 L314R possibly damaging Het
Itgav A C 2: 83,795,540 Y810S probably damaging Het
Kcng4 G T 8: 119,626,322 P283Q probably benign Het
Lrrn3 T A 12: 41,453,344 I325F probably damaging Het
Lzts3 A G 2: 130,637,957 probably benign Het
Matn2 A T 15: 34,355,655 I269F probably damaging Het
Matn4 A G 2: 164,389,837 F591S probably damaging Het
Mknk1 C T 4: 115,857,091 R20C probably damaging Het
Mrgbp T C 2: 180,584,479 V115A probably damaging Het
Mrgprb8 C T 7: 48,388,625 Q15* probably null Het
Naa38 T C 11: 69,395,917 L9P probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr131 T A 17: 38,082,223 M252L probably benign Het
Olfr1501 G A 19: 13,838,924 T83I probably benign Het
Olfr525 T A 7: 140,322,741 L14Q probably damaging Het
Pkd1 A G 17: 24,575,189 N1950S probably damaging Het
Plagl2 A G 2: 153,232,279 L234P probably damaging Het
Psmb11 C T 14: 54,625,651 R109W probably damaging Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Rsbn1 A G 3: 103,962,352 T710A probably benign Het
Slitrk4 A G X: 64,271,327 I578T possibly damaging Het
Srgap1 T C 10: 121,855,462 Y289C probably damaging Het
Stxbp2 A G 8: 3,642,685 D579G possibly damaging Het
Tg T C 15: 66,678,093 Y235H probably damaging Het
Thbs3 A G 3: 89,220,207 N385S probably damaging Het
Trmo A G 4: 46,387,602 S80P probably damaging Het
Ubc T C 5: 125,386,137 K709E probably benign Het
Vstm4 C T 14: 32,937,788 P296S probably damaging Het
Wdr11 G A 7: 129,607,098 probably null Het
Wdr19 T C 5: 65,252,378 I1153T possibly damaging Het
Xpo6 T C 7: 126,156,729 E213G possibly damaging Het
Zxdc A C 6: 90,372,562 T311P probably damaging Het
Other mutations in March7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:March7 APN 2 60234195 missense probably benign 0.01
IGL02001:March7 APN 2 60234891 missense possibly damaging 0.95
PIT4687001:March7 UTSW 2 60232278 missense probably damaging 1.00
R0379:March7 UTSW 2 60234126 missense probably benign 0.00
R1722:March7 UTSW 2 60234182 missense probably damaging 1.00
R1755:March7 UTSW 2 60234921 missense probably benign
R1759:March7 UTSW 2 60234544 missense probably damaging 1.00
R1809:March7 UTSW 2 60232293 missense probably benign 0.16
R2018:March7 UTSW 2 60229040 nonsense probably null
R2226:March7 UTSW 2 60229846 missense probably benign 0.13
R2227:March7 UTSW 2 60229846 missense probably benign 0.13
R2471:March7 UTSW 2 60236900 missense possibly damaging 0.80
R3724:March7 UTSW 2 60229745 missense probably benign 0.10
R4349:March7 UTSW 2 60234195 missense probably benign 0.01
R4667:March7 UTSW 2 60241050 nonsense probably null
R5365:March7 UTSW 2 60233914 missense possibly damaging 0.48
R5524:March7 UTSW 2 60245303 intron probably benign
R5860:March7 UTSW 2 60236843 missense probably damaging 1.00
R5883:March7 UTSW 2 60234442 missense probably damaging 1.00
R5945:March7 UTSW 2 60240987 missense probably damaging 1.00
R5992:March7 UTSW 2 60245220 missense probably benign 0.14
R6937:March7 UTSW 2 60240966 missense probably damaging 1.00
R6944:March7 UTSW 2 60234243 missense probably benign 0.08
R6992:March7 UTSW 2 60229084 critical splice donor site probably null
Posted On2015-12-18