Incidental Mutation 'IGL01751:Mfge8'
ID153143
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? Possibly non essential (E-score: 0.406) question?
Stock #IGL01751
Quality Score
Status
Chromosome7
Chromosomal Location79133768-79149060 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79136655 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032825] [ENSMUST00000107409] [ENSMUST00000205563]
Predicted Effect probably null
Transcript: ENSMUST00000032825
SMART Domains Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605

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 null
Transcript: ENSMUST00000107409
SMART Domains Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,930,588 H174L possibly damaging Het
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Ccdc7b A T 8: 129,136,568 probably benign Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr1173 A T 2: 88,274,633 C139S possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olr1 T C 6: 129,488,848 N65S possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in Mfge8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Mfge8 APN 7 79136782 missense probably damaging 1.00
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
Posted On2014-02-04