Incidental Mutation 'IGL01284:Mfge8'
ID 72653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfge8
Ensembl Gene ENSMUSG00000030605
Gene Name milk fat globule EGF and factor V/VIII domain containing
Synonyms Mfgm, SED1, lactadherin, MFG-E8, EGF/factor VIII
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # IGL01284
Quality Score
Status
Chromosome 7
Chromosomal Location 78783516-78798808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78786530 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P21956
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
Aak1 A T 6: 86,827,035 (GRCm39) M1L possibly damaging Het
Agr2 A G 12: 36,045,580 (GRCm39) D22G possibly damaging Het
C9orf72 A T 4: 35,218,808 (GRCm39) I17N probably damaging Het
Cck G T 9: 121,319,236 (GRCm39) N82K probably benign Het
Cdh23 A T 10: 60,301,876 (GRCm39) I402N possibly damaging Het
Cfap157 T C 2: 32,671,491 (GRCm39) D105G possibly damaging Het
Dhx9 C A 1: 153,340,644 (GRCm39) L665F probably damaging Het
Dlg5 T C 14: 24,196,265 (GRCm39) E1621G probably damaging Het
Dst A G 1: 34,203,009 (GRCm39) Y713C probably damaging Het
Fbp2 T C 13: 62,988,099 (GRCm39) S271G probably benign Het
Gp5 G T 16: 30,128,028 (GRCm39) S215R probably benign Het
Kpnb1 A G 11: 97,056,928 (GRCm39) M647T probably damaging Het
Masp2 A G 4: 148,698,464 (GRCm39) E515G probably damaging Het
Negr1 C T 3: 156,851,854 (GRCm39) P219S probably damaging Het
Nkx2-6 T C 14: 69,409,326 (GRCm39) S26P probably benign Het
Or10a49 C T 7: 108,467,482 (GRCm39) R293K possibly damaging Het
Pdzd9 A C 7: 120,259,494 (GRCm39) Y165D possibly damaging Het
Pik3ca C T 3: 32,516,733 (GRCm39) A987V probably damaging Het
Pomp T A 5: 147,797,491 (GRCm39) probably benign Het
Rbm33 A G 5: 28,615,707 (GRCm39) T17A probably damaging Het
Skic2 T C 17: 35,058,664 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,277,532 (GRCm39) A334T probably benign Het
Tecta A G 9: 42,256,916 (GRCm39) F1587L probably damaging Het
Tex29 C A 8: 11,894,231 (GRCm39) Y46* probably null Het
Tgm5 A G 2: 120,883,028 (GRCm39) S410P possibly damaging Het
Tmtc2 A G 10: 105,107,372 (GRCm39) Y714H possibly damaging Het
Tubgcp6 C T 15: 88,994,258 (GRCm39) R468Q probably damaging Het
Other mutations in Mfge8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Mfge8 APN 7 78,786,403 (GRCm39) critical splice donor site probably null
IGL02023:Mfge8 APN 7 78,794,985 (GRCm39) intron probably benign
IGL02112:Mfge8 APN 7 78,793,088 (GRCm39) missense probably benign
IGL02669:Mfge8 APN 7 78,795,429 (GRCm39) missense probably benign 0.36
IGL02978:Mfge8 APN 7 78,791,476 (GRCm39) missense possibly damaging 0.92
IGL02978:Mfge8 APN 7 78,791,458 (GRCm39) missense probably damaging 1.00
R1587:Mfge8 UTSW 7 78,784,513 (GRCm39) missense probably damaging 1.00
R1657:Mfge8 UTSW 7 78,791,521 (GRCm39) missense probably benign
R1716:Mfge8 UTSW 7 78,792,191 (GRCm39) missense probably damaging 1.00
R4766:Mfge8 UTSW 7 78,784,273 (GRCm39) missense probably damaging 1.00
R5100:Mfge8 UTSW 7 78,793,048 (GRCm39) missense probably benign 0.13
R6932:Mfge8 UTSW 7 78,793,049 (GRCm39) missense probably benign
R7044:Mfge8 UTSW 7 78,792,268 (GRCm39) missense probably benign 0.25
R7824:Mfge8 UTSW 7 78,795,135 (GRCm39) splice site probably null
R8932:Mfge8 UTSW 7 78,786,530 (GRCm39) missense probably damaging 1.00
Z1177:Mfge8 UTSW 7 78,795,485 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07