Incidental Mutation 'IGL01284:Mfge8'
ID72653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfge8
Ensembl Gene ENSMUSG00000030605
Gene Namemilk fat globule-EGF factor 8 protein
SynonymsMFG-E8, Mfgm, EGF/factor VIII, lactadherin, SED1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL01284
Quality Score
Status
Chromosome7
Chromosomal Location79133768-79149060 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79136782 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 290 (S290P)
Ref Sequence ENSEMBL: ENSMUSP00000103032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032825] [ENSMUST00000107409] [ENSMUST00000205563]
Predicted Effect probably damaging
Transcript: ENSMUST00000032825
AA Change: S327P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: S327P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 27 61 2.43e-4 SMART
EGF 67 108 1.41e-5 SMART
low complexity region 123 138 N/A INTRINSIC
FA58C 147 303 1.94e-43 SMART
FA58C 307 463 1.24e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107409
AA Change: S290P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: S290P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 27 61 2.43e-4 SMART
EGF 67 108 1.41e-5 SMART
FA58C 110 266 3.68e-44 SMART
FA58C 270 426 1.24e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205494
Predicted Effect probably benign
Transcript: ENSMUST00000205563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206338
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,218,808 I17N probably damaging Het
Aak1 A T 6: 86,850,053 M1L possibly damaging Het
Agr2 A G 12: 35,995,581 D22G possibly damaging Het
Cck G T 9: 121,490,170 N82K probably benign Het
Cdh23 A T 10: 60,466,097 I402N possibly damaging Het
Cfap157 T C 2: 32,781,479 D105G possibly damaging Het
Dhx9 C A 1: 153,464,898 L665F probably damaging Het
Dlg5 T C 14: 24,146,197 E1621G probably damaging Het
Dst A G 1: 34,163,928 Y713C probably damaging Het
Fbp2 T C 13: 62,840,285 S271G probably benign Het
Gp5 G T 16: 30,309,210 S215R probably benign Het
Kpnb1 A G 11: 97,166,102 M647T probably damaging Het
Masp2 A G 4: 148,614,007 E515G probably damaging Het
Negr1 C T 3: 157,146,217 P219S probably damaging Het
Nkx2-6 T C 14: 69,171,877 S26P probably benign Het
Olfr517 C T 7: 108,868,275 R293K possibly damaging Het
Pdzd9 A C 7: 120,660,271 Y165D possibly damaging Het
Pik3ca C T 3: 32,462,584 A987V probably damaging Het
Pomp T A 5: 147,860,681 probably benign Het
Rbm33 A G 5: 28,410,709 T17A probably damaging Het
Skiv2l T C 17: 34,839,688 probably benign Het
Slc4a4 G A 5: 89,129,673 A334T probably benign Het
Tecta A G 9: 42,345,620 F1587L probably damaging Het
Tex29 C A 8: 11,844,231 Y46* probably null Het
Tgm5 A G 2: 121,052,547 S410P possibly damaging Het
Tmtc2 A G 10: 105,271,511 Y714H possibly damaging Het
Tubgcp6 C T 15: 89,110,055 R468Q probably damaging Het
Other mutations in Mfge8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Mfge8 APN 7 79136655 critical splice donor site probably null
IGL02023:Mfge8 APN 7 79145237 intron probably benign
IGL02112:Mfge8 APN 7 79143340 missense probably benign
IGL02669:Mfge8 APN 7 79145681 missense probably benign 0.36
IGL02978:Mfge8 APN 7 79141710 missense probably damaging 1.00
IGL02978:Mfge8 APN 7 79141728 missense possibly damaging 0.92
R1587:Mfge8 UTSW 7 79134765 missense probably damaging 1.00
R1657:Mfge8 UTSW 7 79141773 missense probably benign
R1716:Mfge8 UTSW 7 79142443 missense probably damaging 1.00
R4766:Mfge8 UTSW 7 79134525 missense probably damaging 1.00
R5100:Mfge8 UTSW 7 79143300 missense probably benign 0.13
R6932:Mfge8 UTSW 7 79143301 missense probably benign
R7044:Mfge8 UTSW 7 79142520 missense probably benign 0.25
Z1177:Mfge8 UTSW 7 79145737 missense probably benign 0.01
Posted On2013-10-07