Incidental Mutation 'R7044:Mfge8'
ID 547210
Institutional Source Beutler Lab
Gene Symbol Mfge8
Ensembl Gene ENSMUSG00000030605
Gene Name milk fat globule-EGF factor 8 protein
Synonyms MFG-E8, Mfgm, EGF/factor VIII, lactadherin, SED1
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79133768-79149060 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79142520 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 219 (V219A)
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 probably benign
Transcript: ENSMUST00000032825
AA Change: V219A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: V219A

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 benign
Transcript: ENSMUST00000107409
AA Change: V182A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: V182A

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 probably benign
Transcript: ENSMUST00000205563
Meta Mutation Damage Score 0.7592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C T 1: 37,612,280 (GRCm38) D1169N possibly damaging Het
Ankrd6 T A 4: 32,815,260 (GRCm38) Q448L possibly damaging Het
Appl1 A G 14: 26,928,677 (GRCm38) S513P possibly damaging Het
Cdhr2 A T 13: 54,733,321 (GRCm38) K1066* probably null Het
Ckap5 T C 2: 91,577,601 (GRCm38) I824T probably benign Het
Ctbp2 T C 7: 133,015,102 (GRCm38) R35G possibly damaging Het
Dcdc2c T C 12: 28,470,494 (GRCm38) probably benign Het
Eya1 T A 1: 14,231,410 (GRCm38) probably null Het
Fam105a A G 15: 27,657,235 (GRCm38) probably benign Het
Fam207a T C 10: 77,514,392 (GRCm38) D35G possibly damaging Het
Fat4 G C 3: 39,010,810 (GRCm38) A4972P probably benign Het
Fat4 C T 3: 39,010,811 (GRCm38) A4972V probably benign Het
Fbxl8 T A 8: 105,267,015 (GRCm38) M1K probably null Het
Glyat T C 19: 12,650,265 (GRCm38) S75P probably benign Het
Gm3543 T A 14: 41,980,066 (GRCm38) I154F probably damaging Het
Gm4565 T A 7: 22,583,370 (GRCm38) M8L probably benign Het
Gpr179 T C 11: 97,349,790 (GRCm38) Q269R probably benign Het
Hfe2 C A 3: 96,527,474 (GRCm38) H176Q possibly damaging Het
Ikzf2 T C 1: 69,538,901 (GRCm38) H483R possibly damaging Het
Il25 G A 14: 54,933,158 (GRCm38) A63T probably benign Het
Krt27 T A 11: 99,346,814 (GRCm38) N366I probably benign Het
Nrbp1 T C 5: 31,249,946 (GRCm38) V373A probably damaging Het
Olfr1186 A G 2: 88,526,486 (GRCm38) N301S probably benign Het
Pcdh20 A G 14: 88,469,171 (GRCm38) I231T probably damaging Het
Pfkp A G 13: 6,581,567 (GRCm38) W151R probably damaging Het
Pikfyve T C 1: 65,246,854 (GRCm38) I1084T probably benign Het
Poteg T C 8: 27,449,895 (GRCm38) C27R probably damaging Het
Ptprz1 G A 6: 23,044,346 (GRCm38) V1266M probably damaging Het
Rpa1 T C 11: 75,312,802 (GRCm38) D358G probably damaging Het
Snapc4 A G 2: 26,369,953 (GRCm38) S495P probably damaging Het
Surf6 A G 2: 26,899,356 (GRCm38) I123T probably damaging Het
Sybu A T 15: 44,677,695 (GRCm38) S324T possibly damaging Het
Trim3 A T 7: 105,618,214 (GRCm38) S319R probably damaging Het
Trmt11 A G 10: 30,590,934 (GRCm38) F72L probably benign Het
Tsks C T 7: 44,943,792 (GRCm38) R61W probably damaging Het
Ube2k T C 5: 65,581,429 (GRCm38) V36A possibly damaging Het
Ube3a T C 7: 59,288,413 (GRCm38) V688A probably damaging Het
Vegfc A G 8: 54,157,045 (GRCm38) K79E possibly damaging Het
Vmn1r77 G A 7: 12,041,834 (GRCm38) R179Q probably benign Het
Vmn2r97 T A 17: 18,914,367 (GRCm38) F16I probably benign Het
Zfp451 A T 1: 33,802,167 (GRCm38) probably benign Het
Zfp600 C T 4: 146,195,322 (GRCm38) Q187* probably null Het
Other mutations in Mfge8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Mfge8 APN 7 79,136,782 (GRCm38) missense probably damaging 1.00
IGL01751:Mfge8 APN 7 79,136,655 (GRCm38) critical splice donor site probably null
IGL02023:Mfge8 APN 7 79,145,237 (GRCm38) intron probably benign
IGL02112:Mfge8 APN 7 79,143,340 (GRCm38) missense probably benign
IGL02669:Mfge8 APN 7 79,145,681 (GRCm38) missense probably benign 0.36
IGL02978:Mfge8 APN 7 79,141,728 (GRCm38) missense possibly damaging 0.92
IGL02978:Mfge8 APN 7 79,141,710 (GRCm38) missense probably damaging 1.00
R1587:Mfge8 UTSW 7 79,134,765 (GRCm38) missense probably damaging 1.00
R1657:Mfge8 UTSW 7 79,141,773 (GRCm38) missense probably benign
R1716:Mfge8 UTSW 7 79,142,443 (GRCm38) missense probably damaging 1.00
R4766:Mfge8 UTSW 7 79,134,525 (GRCm38) missense probably damaging 1.00
R5100:Mfge8 UTSW 7 79,143,300 (GRCm38) missense probably benign 0.13
R6932:Mfge8 UTSW 7 79,143,301 (GRCm38) missense probably benign
R7824:Mfge8 UTSW 7 79,145,387 (GRCm38) splice site probably null
R8932:Mfge8 UTSW 7 79,136,782 (GRCm38) missense probably damaging 1.00
Z1177:Mfge8 UTSW 7 79,145,737 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13