Incidental Mutation 'R7915:Megf10'
ID 648048
Institutional Source Beutler Lab
Gene Symbol Megf10
Ensembl Gene ENSMUSG00000024593
Gene Name multiple EGF-like-domains 10
Synonyms LOC240312, 3000002B06Rik
MMRRC Submission 045963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7915 (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 T at 57373807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 202 (T202S)
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: T202S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: T202S

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: T202S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: T202S

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: 99.1%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,484,507 (GRCm39) H1585P probably damaging Het
Acaca A T 11: 84,167,414 (GRCm39) T1063S probably benign Het
Actc1 T A 2: 113,880,967 (GRCm39) K86M probably damaging Het
Amz1 A G 5: 140,727,190 (GRCm39) N51S probably benign Het
Arhgap33 G A 7: 30,222,648 (GRCm39) P1095S probably benign Het
Bicra T C 7: 15,722,447 (GRCm39) T357A probably benign Het
C130032M10Rik A G 9: 114,345,123 (GRCm39) R120G unknown Het
Cadps A G 14: 12,705,544 (GRCm38) F284L possibly damaging Het
Ccdc83 G A 7: 89,893,290 (GRCm39) Q156* probably null Het
Cdh20 T A 1: 104,861,898 (GRCm39) M26K probably benign Het
Cdh23 A G 10: 60,143,668 (GRCm39) L2979P probably damaging Het
Cdhr17 A G 5: 17,032,012 (GRCm39) N556D probably benign Het
Crocc2 T C 1: 93,141,363 (GRCm39) L1172P probably damaging Het
Cyp2d10 C T 15: 82,288,628 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,479,621 (GRCm39) probably benign Het
Dgcr2 A G 16: 17,677,266 (GRCm39) probably null Het
Dio3 A G 12: 110,246,473 (GRCm39) M270V Het
Dll1 C A 17: 15,588,690 (GRCm39) D662Y probably damaging Het
Drd1 G T 13: 54,207,834 (GRCm39) P127T probably damaging Het
Evc2 T C 5: 37,544,206 (GRCm39) S652P probably damaging Het
Fam149a C A 8: 45,794,280 (GRCm39) M708I probably benign Het
Fam89a T C 8: 125,467,895 (GRCm39) E139G probably damaging Het
Gpr141 T C 13: 19,936,729 (GRCm39) I15M probably benign Het
Hcn4 G A 9: 58,731,218 (GRCm39) E142K unknown Het
Hivep3 T A 4: 119,954,962 (GRCm39) S1093T possibly damaging Het
Inpp5f C A 7: 128,269,433 (GRCm39) T261K probably benign Het
Ints3 A T 3: 90,340,132 (GRCm39) D42E probably benign Het
Krt90 A T 15: 101,466,838 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrig1 C A 6: 94,607,082 (GRCm39) probably null Het
Mapk14 A G 17: 28,947,928 (GRCm39) T221A probably benign Het
Neo1 A T 9: 58,838,264 (GRCm39) F507I probably benign Het
Or7a35 A G 10: 78,853,264 (GRCm39) Y36C probably damaging Het
Or8b48 A T 9: 38,492,969 (GRCm39) Y132F probably damaging Het
Or8k37 T A 2: 86,469,110 (GRCm39) *314L probably null Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pkd1 T A 17: 24,811,630 (GRCm39) Y3724* probably null Het
Plxnd1 T C 6: 115,943,879 (GRCm39) D1140G probably benign Het
Pramel22 T C 4: 143,382,315 (GRCm39) K127R possibly damaging Het
Prex1 A G 2: 166,463,112 (GRCm39) S250P probably damaging Het
Prom1 A T 5: 44,162,277 (GRCm39) M777K possibly damaging Het
Prrc2c A C 1: 162,519,977 (GRCm39) S2125A probably benign Het
Ptpn12 A G 5: 21,214,449 (GRCm39) I229T probably damaging Het
Ranbp6 A G 19: 29,790,073 (GRCm39) V93A probably benign Het
Rtn3 A G 19: 7,434,865 (GRCm39) C376R probably benign Het
Sis A C 3: 72,828,471 (GRCm39) H1201Q probably damaging Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slc3a2 G A 19: 8,685,182 (GRCm39) R535W probably damaging Het
Slc5a2 T A 7: 127,864,966 (GRCm39) L33Q probably damaging Het
Sltm G T 9: 70,494,431 (GRCm39) R927L probably damaging Het
Spaca7b T C 8: 11,728,645 (GRCm39) T9A possibly damaging Het
Stat1 A G 1: 52,190,440 (GRCm39) D565G probably benign Het
Terb1 T C 8: 105,173,848 (GRCm39) K745R possibly damaging Het
Tescl T C 7: 24,033,113 (GRCm39) I71V probably damaging Het
Tgm1 T C 14: 55,937,883 (GRCm39) D742G probably damaging Het
Tmem128 T A 5: 38,423,875 (GRCm39) W30R probably benign Het
Tox T A 4: 6,822,949 (GRCm39) M123L probably benign Het
Tsnaxip1 A G 8: 106,569,413 (GRCm39) S547G possibly damaging Het
Ttn T A 2: 76,567,539 (GRCm39) K27785* probably null Het
Tut7 T C 13: 59,932,628 (GRCm39) I1345V probably benign Het
Usp38 A C 8: 81,727,712 (GRCm39) S340R probably damaging Het
Utrn A T 10: 12,340,956 (GRCm39) H2840Q probably damaging Het
Vars2 T C 17: 35,975,731 (GRCm39) I229V probably damaging Het
Vmn1r16 A T 6: 57,300,380 (GRCm39) Y81N probably damaging Het
Vmn2r98 A T 17: 19,287,493 (GRCm39) D442V probably benign Het
Vps13d T C 4: 144,813,389 (GRCm39) I3296V Het
Wwtr1 A G 3: 57,483,020 (GRCm39) probably null 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
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'- CCTCCTAGCTTGTGATGGTGATC -3'
(R):5'- TCGAAAGTCAATCAGCAGGG -3'

Sequencing Primer
(F):5'- TGATCACTGGGGGCCTCAC -3'
(R):5'- TAGTGGCCATCTCAGCTGGTC -3'
Posted On 2020-09-15