Incidental Mutation 'IGL02978:Mfge8'
ID 406467
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 # IGL02978
Quality Score
Status
Chromosome 7
Chromosomal Location 78783516-78798808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78791476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 279 (E279G)
Ref Sequence ENSEMBL: ENSMUSP00000032825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032825] [ENSMUST00000107409] [ENSMUST00000205563]
AlphaFold P21956
PDB Structure NMR Structure of the Mouse MFG-E8 C2 Domain [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032825
AA Change: E279G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: E279G

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 possibly damaging
Transcript: ENSMUST00000107409
AA Change: E242G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: E242G

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 noncoding transcript
Transcript: ENSMUST00000205526
Predicted Effect probably benign
Transcript: ENSMUST00000205563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206844
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T A 3: 97,073,875 (GRCm39) F160I probably benign Het
Agt T C 8: 125,284,502 (GRCm39) D412G possibly damaging Het
Als2 C A 1: 59,254,324 (GRCm39) Q344H probably benign Het
Ate1 C A 7: 129,996,470 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,744 (GRCm39) H321R probably damaging Het
Cog2 C A 8: 125,277,075 (GRCm39) H694N probably benign Het
Col11a1 A G 3: 113,855,211 (GRCm39) N157S unknown Het
Cyp3a44 T A 5: 145,725,208 (GRCm39) K331I probably damaging Het
Dnaaf9 T C 2: 130,569,082 (GRCm39) D749G probably damaging Het
Gal3st4 C A 5: 138,263,931 (GRCm39) W351L probably damaging Het
H2-T22 A T 17: 36,352,517 (GRCm39) L136H probably benign Het
Ift25 A G 4: 107,132,471 (GRCm39) E86G probably damaging Het
Itpripl1 A T 2: 126,982,932 (GRCm39) F397I probably damaging Het
Lama1 C T 17: 68,093,076 (GRCm39) Q1705* probably null Het
Obox3 T C 7: 15,360,178 (GRCm39) T164A probably benign Het
Plat T C 8: 23,266,835 (GRCm39) C276R probably damaging Het
Radil G A 5: 142,480,674 (GRCm39) R594C probably benign Het
Shroom4 T A X: 6,497,244 (GRCm39) D801E probably benign Het
Thsd4 C T 9: 59,964,129 (GRCm39) probably null Het
Vmn2r77 C T 7: 86,460,555 (GRCm39) T627I probably benign Het
Vmn2r97 A T 17: 19,168,298 (GRCm39) T851S probably benign Het
Other mutations in Mfge8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Mfge8 APN 7 78,786,530 (GRCm39) missense probably damaging 1.00
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 78,791,458 (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 2016-08-02