Incidental Mutation 'R2471:Marchf7'
ID 253066
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 040403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R2471 (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 G at 60067244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 588 (K588R)
Ref Sequence ENSEMBL: ENSMUSP00000099809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]
AlphaFold Q9WV66
Predicted Effect possibly damaging
Transcript: ENSMUST00000067542
AA Change: K588R

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: K588R

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 possibly damaging
Transcript: ENSMUST00000102747
AA Change: K588R

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: K588R

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 possibly damaging
Transcript: ENSMUST00000102748
AA Change: K588R

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: K588R

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 possibly damaging
Transcript: ENSMUST00000142485
AA Change: K49R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
AA Change: K49R

DomainStartEndE-ValueType
RINGv 15 72 2.11e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143806
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,888,147 (GRCm39) M390K probably benign Het
Bicra A G 7: 15,706,257 (GRCm39) S1395P probably benign Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Csmd1 T A 8: 16,261,776 (GRCm39) D907V probably damaging Het
Cstl1 T A 2: 148,593,041 (GRCm39) Y65* probably null Het
Dnajc1 T C 2: 18,224,627 (GRCm39) I213V possibly damaging Het
Emcn C T 3: 137,109,772 (GRCm39) T138M probably damaging Het
F3 G T 3: 121,518,689 (GRCm39) W51L probably damaging Het
Far2 A G 6: 148,040,192 (GRCm39) Y41C probably damaging Het
Flrt1 A T 19: 7,073,856 (GRCm39) D230E probably damaging Het
Gimap7 G A 6: 48,700,986 (GRCm39) V191M probably damaging Het
Gm19402 A T 10: 77,526,354 (GRCm39) probably benign Het
Ipo5 A C 14: 121,159,574 (GRCm39) K134T probably benign Het
Kcnf1 T C 12: 17,225,531 (GRCm39) E230G probably damaging Het
Mad1l1 T C 5: 140,247,307 (GRCm39) E340G probably benign Het
Map4k5 T C 12: 69,903,620 (GRCm39) I62V probably benign Het
Mctp2 T A 7: 71,810,909 (GRCm39) K52* probably null Het
Nr1h4 A T 10: 89,309,756 (GRCm39) F310L probably damaging Het
Ofcc1 G A 13: 40,250,501 (GRCm39) S605F probably damaging Het
Or2w1b A T 13: 21,300,599 (GRCm39) T246S probably damaging Het
Or5ac25 A T 16: 59,181,944 (GRCm39) S212R possibly damaging Het
Or5b97 G A 19: 12,878,679 (GRCm39) T155I probably benign Het
Pcdh20 T G 14: 88,704,672 (GRCm39) E876A probably benign Het
Plce1 C T 19: 38,768,370 (GRCm39) A2215V probably damaging Het
Ptprg T C 14: 12,210,327 (GRCm38) Y128H probably damaging Het
Sigirr A G 7: 140,672,510 (GRCm39) L204S probably damaging Het
Slc2a12 A T 10: 22,540,706 (GRCm39) Y187F probably damaging Het
Slc31a2 A T 4: 62,214,312 (GRCm39) R86W probably null Het
Smc1b T C 15: 84,976,218 (GRCm39) K830E probably damaging Het
Ssrp1 A G 2: 84,872,642 (GRCm39) N427D possibly damaging Het
Taar9 A T 10: 23,985,289 (GRCm39) F48L probably benign Het
Taok2 T C 7: 126,474,272 (GRCm39) E319G probably damaging Het
Try10 T C 6: 41,333,680 (GRCm39) S142P probably damaging Het
Tsc22d1 A G 14: 76,655,644 (GRCm39) T626A probably benign Het
Zfp101 T C 17: 33,599,950 (GRCm39) E602G possibly 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
R1722:Marchf7 UTSW 2 60,064,526 (GRCm39) missense probably damaging 1.00
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
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'- GCCGTACTCCTCAGTAGAAGTAG -3'
(R):5'- AGCTGCTAAATGGTGACTGTGTC -3'

Sequencing Primer
(F):5'- CGTACTCCTCAGTAGAAGTAGAAATG -3'
(R):5'- AAATGGTGACTGTGTCTGATTTATC -3'
Posted On 2014-12-04