Incidental Mutation 'R1722:Marchf7'
ID 191523
Institutional Source Beutler Lab
Gene Symbol Marchf7
Ensembl Gene ENSMUSG00000026977
Gene Name membrane associated ring-CH-type finger 7
Synonyms March7, Gtrgeo17, Axot
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 60040086-60079555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60064526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 267 (R267S)
Ref Sequence ENSEMBL: ENSMUSP00000099809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]
AlphaFold Q9WV66
Predicted Effect probably damaging
Transcript: ENSMUST00000067542
AA Change: R267S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: R267S

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: R267S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: R267S

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: R267S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: R267S

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 probably benign
Transcript: ENSMUST00000142485
SMART Domains Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977

DomainStartEndE-ValueType
RINGv 15 72 2.11e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143806
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Other mutations in Marchf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Marchf7 APN 2 60,064,539 (GRCm39) missense probably benign 0.01
IGL02001:Marchf7 APN 2 60,065,235 (GRCm39) missense possibly damaging 0.95
IGL02927:Marchf7 APN 2 60,067,262 (GRCm39) missense probably damaging 1.00
PIT4687001:Marchf7 UTSW 2 60,062,622 (GRCm39) missense probably damaging 1.00
R0379:Marchf7 UTSW 2 60,064,470 (GRCm39) missense probably benign 0.00
R1755:Marchf7 UTSW 2 60,065,265 (GRCm39) missense probably benign
R1759:Marchf7 UTSW 2 60,064,888 (GRCm39) missense probably damaging 1.00
R1809:Marchf7 UTSW 2 60,062,637 (GRCm39) missense probably benign 0.16
R2018:Marchf7 UTSW 2 60,059,384 (GRCm39) nonsense probably null
R2226:Marchf7 UTSW 2 60,060,190 (GRCm39) missense probably benign 0.13
R2227:Marchf7 UTSW 2 60,060,190 (GRCm39) missense probably benign 0.13
R2471:Marchf7 UTSW 2 60,067,244 (GRCm39) missense possibly damaging 0.80
R3724:Marchf7 UTSW 2 60,060,089 (GRCm39) missense probably benign 0.10
R4349:Marchf7 UTSW 2 60,064,539 (GRCm39) missense probably benign 0.01
R4667:Marchf7 UTSW 2 60,071,394 (GRCm39) nonsense probably null
R5365:Marchf7 UTSW 2 60,064,258 (GRCm39) missense possibly damaging 0.48
R5524:Marchf7 UTSW 2 60,075,647 (GRCm39) intron probably benign
R5860:Marchf7 UTSW 2 60,067,187 (GRCm39) missense probably damaging 1.00
R5883:Marchf7 UTSW 2 60,064,786 (GRCm39) missense probably damaging 1.00
R5945:Marchf7 UTSW 2 60,071,331 (GRCm39) missense probably damaging 1.00
R5992:Marchf7 UTSW 2 60,075,564 (GRCm39) missense probably benign 0.14
R6937:Marchf7 UTSW 2 60,071,310 (GRCm39) missense probably damaging 1.00
R6944:Marchf7 UTSW 2 60,064,587 (GRCm39) missense probably benign 0.08
R6992:Marchf7 UTSW 2 60,059,428 (GRCm39) critical splice donor site probably null
R7337:Marchf7 UTSW 2 60,071,189 (GRCm39) splice site probably null
R7448:Marchf7 UTSW 2 60,077,858 (GRCm39) critical splice donor site probably null
R7577:Marchf7 UTSW 2 60,060,048 (GRCm39) nonsense probably null
R7712:Marchf7 UTSW 2 60,065,334 (GRCm39) nonsense probably null
R7863:Marchf7 UTSW 2 60,071,366 (GRCm39) missense probably benign 0.35
R8281:Marchf7 UTSW 2 60,064,873 (GRCm39) missense probably benign 0.02
R8469:Marchf7 UTSW 2 60,064,670 (GRCm39) missense probably benign 0.05
R8745:Marchf7 UTSW 2 60,067,153 (GRCm39) nonsense probably null
R8794:Marchf7 UTSW 2 60,074,015 (GRCm39) critical splice donor site probably null
R9711:Marchf7 UTSW 2 60,060,175 (GRCm39) missense probably damaging 1.00
R9729:Marchf7 UTSW 2 60,064,785 (GRCm39) nonsense probably null
R9773:Marchf7 UTSW 2 60,064,785 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCCTTCTGACCATCAGACAGTACC -3'
(R):5'- AGTCACCCTGTGCTTCAAGATGAAC -3'

Sequencing Primer
(F):5'- TACCAAGTTCTAGGGACTCCAGTAG -3'
(R):5'- AGGAGGTTCCATTATTCCGAGAC -3'
Posted On 2014-05-14