Incidental Mutation 'R0652:Megf10'
ID 62342
Institutional Source Beutler Lab
Gene Symbol Megf10
Ensembl Gene ENSMUSG00000024593
Gene Name multiple EGF-like-domains 10
Synonyms LOC240312, 3000002B06Rik
MMRRC Submission 038837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R0652 (G1)
Quality Score 148
Status Not validated
Chromosome 18
Chromosomal Location 57266162-57430539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57410796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 702 (P702S)
Ref Sequence ENSEMBL: ENSMUSP00000075174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075770] [ENSMUST00000139892]
AlphaFold Q6DIB5
Predicted Effect probably benign
Transcript: ENSMUST00000075770
AA Change: P702S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: P702S

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 benign
Transcript: ENSMUST00000139892
AA Change: P702S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: P702S

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: 99.3%
  • 3x: 98.5%
  • 10x: 96.3%
  • 20x: 90.1%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,889 (GRCm39) N387D probably benign Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Ahi1 C A 10: 20,855,360 (GRCm39) H556Q probably damaging Het
Amph A G 13: 19,270,791 (GRCm39) probably null Het
Apol7a T C 15: 77,274,055 (GRCm39) probably benign Het
Apoo-ps A T 13: 107,550,910 (GRCm39) noncoding transcript Het
Arpc1b A G 5: 145,063,670 (GRCm39) D306G probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Atm A G 9: 53,397,314 (GRCm39) V1673A probably damaging Het
B3gnt3 A T 8: 72,146,466 (GRCm39) V21E probably benign Het
Bco1 A G 8: 117,832,435 (GRCm39) D77G probably damaging Het
Brinp2 A T 1: 158,074,191 (GRCm39) H643Q probably damaging Het
Bsn A G 9: 107,982,941 (GRCm39) F3604S unknown Het
Cacna1c A G 6: 118,579,190 (GRCm39) F1753L probably damaging Het
Cd74 T C 18: 60,944,957 (GRCm39) S201P probably damaging Het
Cep192 T A 18: 67,940,336 (GRCm39) L101Q probably benign Het
Cfap161 T C 7: 83,442,484 (GRCm39) I110V probably null Het
Cnksr3 T C 10: 7,070,463 (GRCm39) D257G probably damaging Het
Col14a1 A C 15: 55,208,278 (GRCm39) E121A unknown Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Ctnnd1 A G 2: 84,433,240 (GRCm39) I609T probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Dock7 T C 4: 98,943,586 (GRCm39) D552G possibly damaging Het
Dpyd A G 3: 119,220,924 (GRCm39) D965G probably damaging Het
Efcab2 T A 1: 178,308,911 (GRCm39) M138K probably damaging Het
Eml3 T C 19: 8,910,649 (GRCm39) S204P probably damaging Het
Fbxw16 T A 9: 109,265,236 (GRCm39) S432C possibly damaging Het
Fbxw20 T G 9: 109,061,400 (GRCm39) Q116H probably damaging Het
Fech A G 18: 64,591,240 (GRCm39) S395P probably damaging Het
Fgf7 A G 2: 125,877,875 (GRCm39) K81E probably benign Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Ganab A T 19: 8,892,766 (GRCm39) probably null Het
Gfra1 T C 19: 58,288,986 (GRCm39) N153S possibly damaging Het
Gja4 T A 4: 127,205,920 (GRCm39) Y281F probably benign Het
Gm5141 T C 13: 62,921,946 (GRCm39) T407A probably damaging Het
Gm5422 T C 10: 31,125,277 (GRCm39) noncoding transcript Het
Greb1 T C 12: 16,746,457 (GRCm39) Y1271C probably damaging Het
Hp1bp3 C A 4: 137,956,080 (GRCm39) N50K possibly damaging Het
Hspg2 T C 4: 137,242,033 (GRCm39) F589S probably damaging Het
Ido1 A G 8: 25,075,260 (GRCm39) F183S probably damaging Het
Iqgap1 T A 7: 80,386,143 (GRCm39) K936I probably damaging Het
Kdm4a T C 4: 118,032,886 (GRCm39) D60G probably benign Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lypd11 T A 7: 24,423,622 (GRCm39) N14I possibly damaging Het
Map1a A G 2: 121,133,264 (GRCm39) D1360G probably benign Het
Met A G 6: 17,491,709 (GRCm39) E157G probably benign Het
Mff A G 1: 82,728,285 (GRCm39) D187G possibly damaging Het
Mlph A T 1: 90,870,630 (GRCm39) I514F possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Myo15b T C 11: 115,755,468 (GRCm39) V976A probably benign Het
Myo9a A G 9: 59,779,209 (GRCm39) D1655G probably benign Het
Ncoa6 C T 2: 155,233,131 (GRCm39) G2059D probably benign Het
Ndst4 A T 3: 125,405,188 (GRCm39) H481L possibly damaging Het
Nipbl A G 15: 8,332,964 (GRCm39) S2220P probably benign Het
Nom1 C A 5: 29,640,309 (GRCm39) P212T probably damaging Het
Nsd1 A G 13: 55,395,399 (GRCm39) D1000G possibly damaging Het
Nudt9 T C 5: 104,198,467 (GRCm39) F44S possibly damaging Het
Numb C T 12: 83,842,566 (GRCm39) V537I probably damaging Het
Or10j3b T A 1: 173,043,524 (GRCm39) I102N possibly damaging Het
Or13a27 A T 7: 139,925,545 (GRCm39) M119K probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5b109 A T 19: 13,211,899 (GRCm39) Y95F possibly damaging Het
Or5h17 A G 16: 58,820,063 (GRCm39) N5S probably damaging Het
Or6c211 T A 10: 129,506,248 (GRCm39) T47S probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pcdh10 T A 3: 45,334,199 (GRCm39) V171E probably damaging Het
Pira13 T A 7: 3,825,762 (GRCm39) Y369F probably benign Het
Plxna4 T C 6: 32,162,436 (GRCm39) N1359S probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prr5l T C 2: 101,602,635 (GRCm39) T2A possibly damaging Het
Rbp3 T A 14: 33,680,605 (GRCm39) I1069N possibly damaging Het
Rnf144b A G 13: 47,373,983 (GRCm39) Y60C probably damaging Het
Sbno2 A T 10: 79,903,128 (GRCm39) V396E probably damaging Het
Sdk1 A G 5: 141,940,713 (GRCm39) T494A probably benign Het
Serac1 G T 17: 6,102,031 (GRCm39) D384E probably damaging Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Sigirr A T 7: 140,672,980 (GRCm39) V69D possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
St6gal2 T C 17: 55,805,290 (GRCm39) Y396H probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr4 T A 4: 139,128,637 (GRCm39) I599N probably damaging Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,817,830 (GRCm39) M469K probably benign Het
Wasf1 T A 10: 40,807,902 (GRCm39) probably null Het
Wdr20rt T C 12: 65,272,689 (GRCm39) S51P probably 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
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 57,322,675 (GRCm39) critical splice donor site probably null
R4598:Megf10 UTSW 18 57,420,884 (GRCm39) missense probably damaging 1.00
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
R7488:Megf10 UTSW 18 57,324,187 (GRCm39) missense probably damaging 0.99
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'- GTTCTGTGAGGTGCGTTCCAACTA -3'
(R):5'- tGAACGAGACTACATAATGAGGCAAGC -3'

Sequencing Primer
(F):5'- CCAACTATAGCTGACTGGACTTG -3'
(R):5'- ACTAGACCTCTTGATGGAACAG -3'
Posted On 2013-07-30