Incidental Mutation 'R8221:Megf10'
ID 636734
Institutional Source Beutler Lab
Gene Symbol Megf10
Ensembl Gene ENSMUSG00000024593
Gene Name multiple EGF-like-domains 10
Synonyms LOC240312, 3000002B06Rik
MMRRC Submission 067639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8221 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 57266162-57430539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57416893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 754 (D754G)
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: D754G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: D754G

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: D754G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: D754G

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
Meta Mutation Damage Score 0.1119 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (74/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,576 (GRCm39) F134S probably damaging Het
Acsl5 T C 19: 55,257,262 (GRCm39) probably null Het
Adam29 G T 8: 56,325,463 (GRCm39) N330K probably benign Het
Adgrv1 A G 13: 81,677,033 (GRCm39) S1933P probably benign Het
Afap1l2 T C 19: 56,902,824 (GRCm39) H785R probably damaging Het
Ahnak T A 19: 8,987,800 (GRCm39) L3028* probably null Het
Ajuba T C 14: 54,807,847 (GRCm39) T462A possibly damaging Het
Ankrd36 A G 11: 5,534,016 (GRCm39) N289S possibly damaging Het
Ankrd46 A T 15: 36,486,001 (GRCm39) L84Q probably damaging Het
Ankrd54 T G 15: 78,940,270 (GRCm39) D163A probably damaging Het
Arhgef28 A G 13: 98,282,064 (GRCm39) L10P probably benign Het
Atm A T 9: 53,367,288 (GRCm39) probably null Het
Azin1 G C 15: 38,492,572 (GRCm39) F312L probably damaging Het
C2cd4c A G 10: 79,448,482 (GRCm39) S222P probably damaging Het
Cdyl A G 13: 36,000,147 (GRCm39) T143A probably benign Het
Clhc1 G A 11: 29,503,751 (GRCm39) V56I possibly damaging Het
Cntn4 T C 6: 106,486,471 (GRCm39) S300P probably benign Het
Col12a1 A G 9: 79,551,224 (GRCm39) Y2131H probably damaging Het
Cyp3a41b A G 5: 145,506,190 (GRCm39) S287P probably benign Het
Dctn4 A G 18: 60,689,401 (GRCm39) D424G probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dop1b A G 16: 93,546,847 (GRCm39) T284A probably benign Het
E330034G19Rik A C 14: 24,346,135 (GRCm39) probably null Het
Ehhadh G A 16: 21,581,373 (GRCm39) P540S possibly damaging Het
Emsy T C 7: 98,297,111 (GRCm39) E24G probably damaging Het
F930015N05Rik A C 11: 64,326,418 (GRCm39) L74W unknown Het
Fat1 A G 8: 45,406,390 (GRCm39) D1047G Het
Galnt7 A G 8: 58,005,600 (GRCm39) V211A possibly damaging Het
Gdap2 T C 3: 100,109,611 (GRCm39) C543R unknown Het
Ghr A C 15: 3,362,901 (GRCm39) D190E probably benign Het
Glrx A G 13: 75,995,346 (GRCm39) M89V probably benign Het
Gm10323 A C 13: 67,000,859 (GRCm39) Y91* noncoding transcript Het
Gnb4 A T 3: 32,644,184 (GRCm39) D153E possibly damaging Het
Gnptab G T 10: 88,276,254 (GRCm39) probably null Het
Grip2 T C 6: 91,762,665 (GRCm39) D193G possibly damaging Het
Igsf3 T C 3: 101,347,038 (GRCm39) W658R probably damaging Het
Ip6k1 T A 9: 107,923,115 (GRCm39) F416I probably benign Het
Klhl1 T G 14: 96,517,546 (GRCm39) T377P possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrfip1 T C 1: 91,042,878 (GRCm39) S428P probably benign Het
Mrgprx2 T A 7: 48,132,527 (GRCm39) Y97F probably benign Het
Msantd2 T G 9: 37,400,684 (GRCm39) V22G probably damaging Het
Myl6b T C 10: 128,333,209 (GRCm39) K11R unknown Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Npas1 T C 7: 16,189,890 (GRCm39) E552G probably damaging Het
Pknox2 T C 9: 36,821,040 (GRCm39) N274S possibly damaging Het
Pmepa1 A T 2: 173,069,700 (GRCm39) L247Q probably damaging Het
Poll T C 19: 45,542,047 (GRCm39) K420E probably damaging Het
Polr2a A G 11: 69,628,344 (GRCm39) V1283A probably benign Het
Ppil4 A T 10: 7,671,444 (GRCm39) Y36F probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Psd2 C T 18: 36,113,478 (GRCm39) R317W probably damaging Het
Pspc1 T A 14: 57,015,616 (GRCm39) M1L probably benign Het
Qrsl1 A T 10: 43,758,080 (GRCm39) F338I possibly damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Sbno2 G A 10: 79,905,845 (GRCm39) P157L probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Setd3 C G 12: 108,073,612 (GRCm39) G555A possibly damaging Het
Slc12a4 A T 8: 106,678,601 (GRCm39) M245K probably benign Het
Slc1a5 T A 7: 16,515,902 (GRCm39) L26Q probably benign Het
Slc38a3 T G 9: 107,534,908 (GRCm39) M156L probably damaging Het
Slc45a2 A T 15: 11,001,233 (GRCm39) I111F probably benign Het
Slc4a3 T A 1: 75,528,810 (GRCm39) M491K probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sppl2c A T 11: 104,077,710 (GRCm39) H170L probably damaging Het
St6gal2 T A 17: 55,797,935 (GRCm39) probably null Het
Taf4b T A 18: 15,031,106 (GRCm39) L830H probably damaging Het
Tex22 A G 12: 113,038,696 (GRCm39) probably null Het
Tiam2 C T 17: 3,568,860 (GRCm39) R1669C probably damaging Het
Tmprss15 T A 16: 78,821,223 (GRCm39) N506I probably damaging Het
Topors A T 4: 40,260,686 (GRCm39) I866K unknown Het
Trip12 G T 1: 84,743,771 (GRCm39) T512K possibly damaging Het
Ubr1 T A 2: 120,791,585 (GRCm39) H133L probably damaging Het
Wwtr1 T C 3: 57,366,441 (GRCm39) D422G probably damaging Het
Zfp689 A C 7: 127,043,758 (GRCm39) C291G probably damaging Het
Zfyve9 A G 4: 108,576,877 (GRCm39) L68P possibly damaging Het
Zswim5 G T 4: 116,735,219 (GRCm39) R188L 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
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
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'- TGAAGGAGCCCAGACTTGAG -3'
(R):5'- GGCAATTAACCGTCAGTCACATG -3'

Sequencing Primer
(F):5'- TCCAAGCAGCCCTGTGATAG -3'
(R):5'- GTCACATGACTCAAGCTGCAG -3'
Posted On 2020-07-13