Incidental Mutation 'R7488:Megf10'
ID 580378
Institutional Source Beutler Lab
Gene Symbol Megf10
Ensembl Gene ENSMUSG00000024593
Gene Name multiple EGF-like-domains 10
Synonyms LOC240312, 3000002B06Rik
MMRRC Submission 045562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R7488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 57266162-57430539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57324187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 76 (Y76C)
Ref Sequence ENSEMBL: ENSMUSP00000075174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075770] [ENSMUST00000139892]
AlphaFold Q6DIB5
Predicted Effect probably damaging
Transcript: ENSMUST00000075770
AA Change: Y76C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: Y76C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 108 136 9.41e-2 SMART
EGF_Lam 152 191 3.57e-2 SMART
EGF 190 222 5.79e-2 SMART
EGF 233 265 1.78e-2 SMART
EGF_Lam 281 320 7.58e-6 SMART
EGF 319 351 7.13e-2 SMART
EGF_Lam 368 409 9.05e-4 SMART
EGF 408 440 8.78e-2 SMART
EGF 451 483 2.85e-1 SMART
EGF 494 526 2.02e-1 SMART
EGF_Lam 542 581 1.04e-3 SMART
EGF 580 612 1.91e-2 SMART
EGF 623 657 2.16e1 SMART
EGF 668 700 2.48e-1 SMART
EGF 711 743 2.81e0 SMART
EGF_Lam 759 798 4.16e-3 SMART
EGF 797 829 1.73e0 SMART
transmembrane domain 856 878 N/A INTRINSIC
low complexity region 1014 1026 N/A INTRINSIC
low complexity region 1131 1146 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139892
AA Change: Y76C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: Y76C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 108 136 9.41e-2 SMART
EGF_Lam 152 191 3.57e-2 SMART
EGF 190 222 5.79e-2 SMART
EGF 233 265 1.78e-2 SMART
EGF_Lam 281 320 7.58e-6 SMART
EGF 319 351 7.13e-2 SMART
EGF_Lam 368 409 9.05e-4 SMART
EGF 408 440 8.78e-2 SMART
EGF 451 483 2.85e-1 SMART
EGF 494 526 2.02e-1 SMART
EGF_Lam 542 581 1.04e-3 SMART
EGF 580 612 1.91e-2 SMART
EGF 623 657 2.16e1 SMART
EGF 668 700 2.48e-1 SMART
EGF 711 743 2.81e0 SMART
EGF_Lam 759 798 4.16e-3 SMART
EGF 797 829 1.73e0 SMART
transmembrane domain 856 878 N/A INTRINSIC
low complexity region 1014 1026 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,197,179 (GRCm39) F251I possibly damaging Het
Abcb11 C T 2: 69,108,146 (GRCm39) G717D probably benign Het
Abcc1 G A 16: 14,207,763 (GRCm39) W47* probably null Het
Ahnak2 A G 12: 112,748,641 (GRCm39) I402T Het
Ankfy1 G A 11: 72,650,769 (GRCm39) R984Q probably benign Het
Apaf1 A G 10: 90,890,242 (GRCm39) I598T probably benign Het
Apobec1 G T 6: 122,558,521 (GRCm39) P78Q possibly damaging Het
Asap1 A T 15: 63,991,974 (GRCm39) I737N probably benign Het
Aste1 T A 9: 105,279,904 (GRCm39) probably null Het
Bcr A C 10: 74,996,162 (GRCm39) D902A possibly damaging Het
Bicra T C 7: 15,723,367 (GRCm39) probably null Het
Ccdc27 T C 4: 154,117,424 (GRCm39) T508A probably benign Het
Ccz1 T A 5: 143,928,401 (GRCm39) N383I probably damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Cdhr2 T C 13: 54,865,728 (GRCm39) I242T probably benign Het
Cdk4 T A 10: 126,900,106 (GRCm39) M1K probably null Het
Cfap96 A G 8: 46,415,331 (GRCm39) V225A probably benign Het
Cntn5 A T 9: 9,970,570 (GRCm39) S302T probably damaging Het
Col25a1 G T 3: 130,378,350 (GRCm39) G601V probably damaging Het
Cpb1 A G 3: 20,324,488 (GRCm39) L62P possibly damaging Het
Cpne1 T C 2: 155,919,857 (GRCm39) T264A probably benign Het
Cpvl T A 6: 53,924,727 (GRCm39) N198Y probably damaging Het
Cyp2u1 A C 3: 131,091,596 (GRCm39) L308R probably damaging Het
Ddx54 G T 5: 120,762,789 (GRCm39) V637L probably benign Het
Dglucy C A 12: 100,823,310 (GRCm39) P472T possibly damaging Het
Dync2h1 A G 9: 7,124,855 (GRCm39) Y2006H probably benign Het
Eif5b T C 1: 38,089,387 (GRCm39) M1121T possibly damaging Het
Emsy A G 7: 98,264,762 (GRCm39) V545A possibly damaging Het
Ezh1 G A 11: 101,091,726 (GRCm39) L480F possibly damaging Het
Fbln2 T A 6: 91,242,845 (GRCm39) probably null Het
Gja10 T A 4: 32,602,058 (GRCm39) K109* probably null Het
Gm28042 A G 2: 119,870,438 (GRCm39) N762S probably benign Het
Gnb1l C A 16: 18,359,220 (GRCm39) P7Q possibly damaging Het
Grem2 A T 1: 174,664,685 (GRCm39) S55T probably damaging Het
Gsn A T 2: 35,186,433 (GRCm39) N393I possibly damaging Het
H6pd T A 4: 150,067,093 (GRCm39) Q439L probably benign Het
Hmcn2 G A 2: 31,310,842 (GRCm39) G3362E probably damaging Het
Ighv11-2 T C 12: 114,011,978 (GRCm39) Y79C probably damaging Het
Ikzf2 T A 1: 69,578,544 (GRCm39) N322Y probably benign Het
Il25 A G 14: 55,170,459 (GRCm39) I11V probably benign Het
Jak2 C T 19: 29,275,783 (GRCm39) T741I probably damaging Het
Kdm3b T C 18: 34,957,934 (GRCm39) S1300P probably damaging Het
Ldb3 T A 14: 34,289,402 (GRCm39) Q268L probably damaging Het
Lrrc23 T A 6: 124,756,075 (GRCm39) D6V unknown Het
Neb A T 2: 52,110,233 (GRCm39) M205K probably benign Het
Or12e8 T C 2: 87,188,597 (GRCm39) S270P probably damaging Het
Or6c2b G T 10: 128,947,605 (GRCm39) Q230K probably benign Het
Or8a1 A G 9: 37,641,983 (GRCm39) S99P probably damaging Het
Pcnx3 G A 19: 5,717,487 (GRCm39) R1541W possibly damaging Het
Pdgfd A G 9: 6,359,739 (GRCm39) Y270C probably damaging Het
Pds5b A T 5: 150,646,802 (GRCm39) D197V probably damaging Het
Pknox2 A G 9: 36,866,127 (GRCm39) M30T probably benign Het
Plekhg1 A T 10: 3,907,491 (GRCm39) S858C Het
Por A T 5: 135,762,498 (GRCm39) E400D probably benign Het
Pou2af2 C A 9: 51,201,360 (GRCm39) R232L probably damaging Het
Psip1 A G 4: 83,391,275 (GRCm39) probably null Het
Retreg1 G T 15: 25,889,628 (GRCm39) V111F Het
Rock1 G A 18: 10,122,762 (GRCm39) A353V probably damaging Het
Rpl6 C G 5: 121,346,591 (GRCm39) R231G probably benign Het
Scn7a C T 2: 66,587,574 (GRCm39) R43H probably benign Het
Scnn1g T A 7: 121,362,657 (GRCm39) N488K probably benign Het
Slc24a1 A G 9: 64,831,764 (GRCm39) V1111A probably benign Het
Snapc1 C T 12: 74,029,285 (GRCm39) S356L probably benign Het
Spata31e2 T C 1: 26,723,039 (GRCm39) T714A possibly damaging Het
Ssbp2 T A 13: 91,823,209 (GRCm39) N201K probably damaging Het
Tfdp2 A G 9: 96,179,695 (GRCm39) N43D probably damaging Het
Tmprss11d A G 5: 86,474,309 (GRCm39) I216T probably damaging Het
Tmprss4 A G 9: 45,086,853 (GRCm39) S303P probably benign Het
Tnpo2 A G 8: 85,781,663 (GRCm39) E815G probably benign Het
Trav6-1 A C 14: 52,875,972 (GRCm39) M1L possibly damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Trpv1 C T 11: 73,129,355 (GRCm39) P91S probably benign Het
Trpv2 T C 11: 62,480,576 (GRCm39) Y338H probably damaging Het
Txnip T C 3: 96,467,539 (GRCm39) M336T probably benign Het
Vmn1r61 A T 7: 5,613,767 (GRCm39) H182Q possibly damaging Het
Vmn2r105 A G 17: 20,429,045 (GRCm39) V677A probably damaging Het
Wwp1 G T 4: 19,627,660 (GRCm39) T745K probably damaging Het
Xkr5 C A 8: 18,983,608 (GRCm39) E645* probably null Het
Zfp451 C T 1: 33,818,221 (GRCm39) R303H probably benign Het
Zyg11b T C 4: 108,123,655 (GRCm39) H104R possibly damaging Het
Other mutations in Megf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Megf10 APN 18 57,373,700 (GRCm39) missense probably damaging 1.00
IGL00736:Megf10 APN 18 57,425,782 (GRCm39) missense probably benign 0.35
IGL01631:Megf10 APN 18 57,392,869 (GRCm39) missense possibly damaging 0.61
IGL02488:Megf10 APN 18 57,425,704 (GRCm39) missense probably damaging 1.00
IGL02747:Megf10 APN 18 57,423,565 (GRCm39) missense probably benign 0.43
IGL03298:Megf10 APN 18 57,416,910 (GRCm39) nonsense probably null
deep UTSW 18 57,395,203 (GRCm39) missense probably damaging 1.00
megalodon UTSW 18 57,421,048 (GRCm39) nonsense probably null
sharkie UTSW 18 57,324,257 (GRCm39) nonsense probably null
IGL03046:Megf10 UTSW 18 57,421,055 (GRCm39) missense possibly damaging 0.95
PIT4696001:Megf10 UTSW 18 57,410,760 (GRCm39) missense probably damaging 1.00
R0020:Megf10 UTSW 18 57,420,965 (GRCm39) missense possibly damaging 0.81
R0020:Megf10 UTSW 18 57,420,965 (GRCm39) missense possibly damaging 0.81
R0115:Megf10 UTSW 18 57,392,874 (GRCm39) missense possibly damaging 0.67
R0455:Megf10 UTSW 18 57,386,054 (GRCm39) missense probably benign 0.34
R0602:Megf10 UTSW 18 57,395,172 (GRCm39) missense probably damaging 0.98
R0630:Megf10 UTSW 18 57,421,067 (GRCm39) missense probably benign 0.14
R0652:Megf10 UTSW 18 57,410,796 (GRCm39) missense probably benign 0.00
R0658:Megf10 UTSW 18 57,385,968 (GRCm39) missense probably benign 0.00
R0761:Megf10 UTSW 18 57,421,048 (GRCm39) nonsense probably null
R1013:Megf10 UTSW 18 57,394,291 (GRCm39) missense probably benign 0.00
R1130:Megf10 UTSW 18 57,395,078 (GRCm39) missense probably benign 0.06
R1451:Megf10 UTSW 18 57,385,931 (GRCm39) missense probably damaging 0.97
R1699:Megf10 UTSW 18 57,410,802 (GRCm39) splice site probably null
R1729:Megf10 UTSW 18 57,373,864 (GRCm39) critical splice donor site probably null
R1784:Megf10 UTSW 18 57,373,864 (GRCm39) critical splice donor site probably null
R1870:Megf10 UTSW 18 57,324,257 (GRCm39) nonsense probably null
R1961:Megf10 UTSW 18 57,345,426 (GRCm39) missense probably damaging 0.97
R2094:Megf10 UTSW 18 57,414,785 (GRCm39) nonsense probably null
R2213:Megf10 UTSW 18 57,421,081 (GRCm39) nonsense probably null
R2853:Megf10 UTSW 18 57,427,003 (GRCm39) missense probably damaging 1.00
R3772:Megf10 UTSW 18 57,416,934 (GRCm39) missense probably benign 0.39
R3774:Megf10 UTSW 18 57,410,177 (GRCm39) missense probably damaging 1.00
R3775:Megf10 UTSW 18 57,410,177 (GRCm39) missense probably damaging 1.00
R3776:Megf10 UTSW 18 57,410,177 (GRCm39) missense probably damaging 1.00
R3858:Megf10 UTSW 18 57,408,907 (GRCm39) splice site probably benign
R3911:Megf10 UTSW 18 57,422,465 (GRCm39) missense probably damaging 0.99
R3966:Megf10 UTSW 18 57,313,646 (GRCm39) missense probably damaging 1.00
R4043:Megf10 UTSW 18 57,392,870 (GRCm39) missense probably damaging 0.98
R4131:Megf10 UTSW 18 57,313,607 (GRCm39) missense probably damaging 1.00
R4598:Megf10 UTSW 18 57,420,884 (GRCm39) missense probably damaging 1.00
R4598:Megf10 UTSW 18 57,322,675 (GRCm39) critical splice donor site probably null
R4726:Megf10 UTSW 18 57,420,864 (GRCm39) missense probably benign 0.32
R4765:Megf10 UTSW 18 57,420,866 (GRCm39) missense possibly damaging 0.56
R4874:Megf10 UTSW 18 57,426,930 (GRCm39) missense probably benign 0.00
R4928:Megf10 UTSW 18 57,373,745 (GRCm39) missense probably benign
R5412:Megf10 UTSW 18 57,324,219 (GRCm39) missense probably damaging 0.99
R5901:Megf10 UTSW 18 57,410,180 (GRCm39) missense probably benign 0.11
R6015:Megf10 UTSW 18 57,386,100 (GRCm39) missense probably benign 0.01
R6036:Megf10 UTSW 18 57,375,799 (GRCm39) missense probably damaging 1.00
R6036:Megf10 UTSW 18 57,375,799 (GRCm39) missense probably damaging 1.00
R6041:Megf10 UTSW 18 57,313,621 (GRCm39) missense probably benign
R6369:Megf10 UTSW 18 57,394,259 (GRCm39) missense probably benign 0.06
R6479:Megf10 UTSW 18 57,379,642 (GRCm39) missense possibly damaging 0.76
R6489:Megf10 UTSW 18 57,424,879 (GRCm39) missense probably benign 0.01
R7228:Megf10 UTSW 18 57,322,661 (GRCm39) missense probably damaging 1.00
R7296:Megf10 UTSW 18 57,408,825 (GRCm39) missense probably damaging 1.00
R7437:Megf10 UTSW 18 57,395,203 (GRCm39) missense probably damaging 1.00
R7461:Megf10 UTSW 18 57,385,925 (GRCm39) missense probably damaging 0.98
R7492:Megf10 UTSW 18 57,424,866 (GRCm39) missense probably benign 0.00
R7542:Megf10 UTSW 18 57,322,642 (GRCm39) missense probably benign 0.07
R7636:Megf10 UTSW 18 57,410,061 (GRCm39) missense possibly damaging 0.85
R7646:Megf10 UTSW 18 57,427,071 (GRCm39) unclassified probably benign
R7650:Megf10 UTSW 18 57,427,071 (GRCm39) unclassified probably benign
R7713:Megf10 UTSW 18 57,427,071 (GRCm39) unclassified probably benign
R7714:Megf10 UTSW 18 57,427,071 (GRCm39) unclassified probably benign
R7716:Megf10 UTSW 18 57,427,071 (GRCm39) unclassified probably benign
R7796:Megf10 UTSW 18 57,410,731 (GRCm39) missense possibly damaging 0.85
R7915:Megf10 UTSW 18 57,373,807 (GRCm39) missense probably benign 0.05
R8221:Megf10 UTSW 18 57,416,893 (GRCm39) missense probably benign 0.00
R8527:Megf10 UTSW 18 57,425,790 (GRCm39) missense probably benign 0.00
R8559:Megf10 UTSW 18 57,373,699 (GRCm39) missense probably damaging 1.00
R9117:Megf10 UTSW 18 57,392,773 (GRCm39) missense probably damaging 1.00
R9337:Megf10 UTSW 18 57,394,252 (GRCm39) nonsense probably null
R9481:Megf10 UTSW 18 57,395,090 (GRCm39) missense probably benign 0.38
R9644:Megf10 UTSW 18 57,375,773 (GRCm39) missense probably benign
RF003:Megf10 UTSW 18 57,427,099 (GRCm39) unclassified probably benign
Z1176:Megf10 UTSW 18 57,410,766 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTCTGAATTGAGGAATTCTCTCTAGC -3'
(R):5'- TTTCTGCAGGGCACAAGCAG -3'

Sequencing Primer
(F):5'- TGAGGAATTCTCTCTAGCAACTG -3'
(R):5'- GAATGTTCCAACCACCCCATCTTC -3'
Posted On 2019-10-07