Incidental Mutation 'R7542:Megf10'
ID 583983
Institutional Source Beutler Lab
Gene Symbol Megf10
Ensembl Gene ENSMUSG00000024593
Gene Name multiple EGF-like-domains 10
Synonyms LOC240312, 3000002B06Rik
MMRRC Submission 045614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7542 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 57266162-57430539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57322642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 62 (D62E)
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: D62E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: D62E

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: D62E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: D62E

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: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,848 (GRCm39) T439S possibly damaging Het
Akap11 A T 14: 78,747,732 (GRCm39) S1552T Het
Akap6 A G 12: 53,116,017 (GRCm39) E1040G probably damaging Het
Alms1 A T 6: 85,606,344 (GRCm39) T2196S possibly damaging Het
Alox12e T C 11: 70,212,582 (GRCm39) Q89R possibly damaging Het
AW551984 T A 9: 39,505,927 (GRCm39) E423D possibly damaging Het
Ccpg1 T A 9: 72,919,741 (GRCm39) V452D probably damaging Het
Cdk5r1 T C 11: 80,369,190 (GRCm39) F286L probably damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Clgn A T 8: 84,122,174 (GRCm39) S32C possibly damaging Het
Csk C A 9: 57,536,283 (GRCm39) probably null Het
Dchs2 A G 3: 83,176,591 (GRCm39) T850A probably benign Het
Defb2 T C 8: 22,333,360 (GRCm39) V45A probably benign Het
Disp2 A G 2: 118,621,599 (GRCm39) Q777R probably damaging Het
Dll1 C T 17: 15,590,609 (GRCm39) C369Y probably damaging Het
Dnah7c A G 1: 46,823,658 (GRCm39) I3766V probably benign Het
Elapor1 A T 3: 108,365,543 (GRCm39) probably benign Het
Fam53a A G 5: 33,764,815 (GRCm39) M297T probably damaging Het
Fat4 A G 3: 39,035,504 (GRCm39) D3052G possibly damaging Het
Fat4 A T 3: 39,035,770 (GRCm39) I3141F possibly damaging Het
Fbxw10 T C 11: 62,741,422 (GRCm39) V180A probably benign Het
Frem2 A T 3: 53,560,000 (GRCm39) D1502E probably damaging Het
Fsip2 A T 2: 82,815,196 (GRCm39) N3643I possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Glb1l3 C A 9: 26,729,491 (GRCm39) A659S possibly damaging Het
Gm8011 A T 14: 42,288,741 (GRCm39) R175* probably null Het
Gna15 A G 10: 81,350,136 (GRCm39) S89P probably damaging Het
Grm2 A T 9: 106,528,368 (GRCm39) L172Q probably damaging Het
Iqcn A G 8: 71,161,415 (GRCm39) T203A possibly damaging Het
Kcnc3 A G 7: 44,245,138 (GRCm39) D476G possibly damaging Het
Kcnh6 A G 11: 105,905,387 (GRCm39) T216A possibly damaging Het
Kdm2a G A 19: 4,383,858 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,553,094 (GRCm39) I1332T probably damaging Het
Maea T C 5: 33,529,007 (GRCm39) C317R probably damaging Het
Manba T C 3: 135,272,354 (GRCm39) V707A probably benign Het
Mcph1 C T 8: 18,681,705 (GRCm39) R281C probably benign Het
Med25 A T 7: 44,541,215 (GRCm39) D99E probably damaging Het
Minar1 T A 9: 89,483,964 (GRCm39) T478S probably damaging Het
Myod1 A T 7: 46,026,097 (GRCm39) M1L probably benign Het
Nav3 A T 10: 109,659,394 (GRCm39) M741K possibly damaging Het
Odf2l A C 3: 144,859,197 (GRCm39) K618T probably damaging Het
Or4c107 A T 2: 88,789,119 (GRCm39) E103V probably benign Het
Pcdha2 G A 18: 37,073,142 (GRCm39) G258R probably damaging Het
Pcdha3 G A 18: 37,080,784 (GRCm39) A509T possibly damaging Het
Pde4dip A G 3: 97,673,971 (GRCm39) V315A possibly damaging Het
Prim1 T C 10: 127,853,903 (GRCm39) V107A probably damaging Het
Pxdc1 A G 13: 34,822,146 (GRCm39) probably null Het
Rab7b C T 1: 131,639,379 (GRCm39) H182Y probably benign Het
Reln C A 5: 22,160,179 (GRCm39) G2130V probably damaging Het
Retreg1 T A 15: 25,941,296 (GRCm39) M1K probably null Het
Rras G A 7: 44,669,766 (GRCm39) R94Q probably damaging Het
Rundc3a T A 11: 102,290,871 (GRCm39) L318Q probably benign Het
Scgb2b18 A T 7: 32,872,747 (GRCm39) probably null Het
Setd1b A T 5: 123,286,510 (GRCm39) M519L unknown Het
Tep1 G A 14: 51,099,948 (GRCm39) Q426* probably null Het
Tesk1 G T 4: 43,445,941 (GRCm39) M291I probably benign Het
Tgs1 A G 4: 3,595,439 (GRCm39) D536G probably benign Het
Thbs1 C T 2: 117,951,655 (GRCm39) T825M probably damaging Het
Tmem59l T C 8: 70,937,814 (GRCm39) N189D possibly damaging Het
Trim30c A T 7: 104,031,425 (GRCm39) D463E possibly damaging Het
Trpc4 A G 3: 54,223,075 (GRCm39) Y706C probably damaging Het
Ttc13 A T 8: 125,401,842 (GRCm39) probably null Het
Tulp1 T C 17: 28,582,729 (GRCm39) K140E probably benign Het
Urb2 A G 8: 124,755,327 (GRCm39) I345V probably benign Het
Vmn2r43 T C 7: 8,258,488 (GRCm39) M242V probably benign Het
Zcwpw1 T C 5: 137,817,785 (GRCm39) V509A probably benign Het
Zfp202 T C 9: 40,122,443 (GRCm39) C402R probably benign 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
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
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'- AGGCATGATTTCAATCCCTAGG -3'
(R):5'- CTTGGGATCAAAGCCCTCAAC -3'

Sequencing Primer
(F):5'- AAATCTGTGTGAGGTTGCAAATG -3'
(R):5'- ACAACTGCTCACTGGGTACATGG -3'
Posted On 2019-10-17