Incidental Mutation 'R7023:Megf6'
ID 545751
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 045124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154338602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 467 (L467P)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897] [ENSMUST00000152159]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030897
AA Change: L467P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: L467P

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
EGF_CA 122 162 1.54e-6 SMART
EGF_CA 163 203 2.08e-12 SMART
EGF 207 245 5.4e-2 SMART
EGF 249 286 2.39e-3 SMART
EGF_CA 287 327 4.96e-10 SMART
EGF 336 373 1.64e-1 SMART
EGF 377 413 1.99e1 SMART
EGF_CA 414 454 7.4e-9 SMART
EGF 521 554 4.26e0 SMART
EGF_Lam 570 609 1.19e-3 SMART
EGF_like 613 652 5.29e-1 SMART
EGF 642 685 2.2e1 SMART
EGF_Lam 656 697 1.04e-3 SMART
EGF 687 730 1.59e1 SMART
EGF_like 701 742 2.27e0 SMART
EGF_Lam 746 784 1.33e-1 SMART
EGF 783 816 2.85e-1 SMART
EGF_Lam 832 871 3.88e-3 SMART
EGF_Lam 875 915 3.25e-5 SMART
EGF 914 946 4.7e-2 SMART
EGF_like 962 1001 1.69e-1 SMART
EGF 1000 1032 7.02e-1 SMART
EGF_Lam 1048 1087 3.1e-2 SMART
EGF 1077 1118 7.53e-1 SMART
EGF_like 1091 1130 5.59e-1 SMART
EGF 1129 1161 5.04e-2 SMART
EGF_Lam 1177 1216 2.94e-3 SMART
EGF 1206 1248 1.87e1 SMART
EGF_Lam 1220 1260 3.1e-2 SMART
EGF 1259 1291 1.73e0 SMART
EGF 1302 1334 6.55e-1 SMART
EGF 1345 1377 4.39e-2 SMART
EGF_Lam 1393 1432 7.64e-2 SMART
EGF_Lam 1436 1475 2.64e-5 SMART
EGF_like 1465 1506 4.2e1 SMART
EGF_Lam 1479 1518 1.19e-3 SMART
EGF 1517 1549 1.84e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152159
AA Change: L359P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: L359P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF_CA 55 95 2.08e-12 SMART
EGF 99 137 5.4e-2 SMART
EGF 141 178 2.39e-3 SMART
EGF_CA 179 219 4.96e-10 SMART
EGF 228 265 1.64e-1 SMART
EGF 269 305 1.99e1 SMART
EGF_CA 306 346 7.4e-9 SMART
EGF 413 446 4.26e0 SMART
EGF_Lam 462 501 1.19e-3 SMART
EGF_like 505 544 5.29e-1 SMART
EGF 534 577 2.2e1 SMART
EGF_Lam 548 589 1.04e-3 SMART
EGF 579 622 1.59e1 SMART
EGF_like 593 634 2.27e0 SMART
EGF_Lam 638 676 1.33e-1 SMART
EGF 675 708 2.85e-1 SMART
EGF_Lam 724 763 3.88e-3 SMART
EGF_Lam 767 807 3.25e-5 SMART
EGF 806 838 4.7e-2 SMART
EGF_Lam 854 893 2.56e-3 SMART
EGF 892 924 2.02e-1 SMART
EGF 935 967 7.13e-2 SMART
EGF 978 1010 1.73e0 SMART
EGF 1021 1053 6.55e-1 SMART
EGF 1064 1096 4.39e-2 SMART
EGF 1107 1139 4.97e-1 SMART
EGF 1159 1191 1.84e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,443 (GRCm39) H372R probably benign Het
4933405O20Rik T C 7: 50,250,001 (GRCm39) I345T probably damaging Het
4933427D14Rik A G 11: 72,069,229 (GRCm39) probably null Het
6430548M08Rik T C 8: 120,872,096 (GRCm39) V8A probably damaging Het
Adam2 A T 14: 66,280,505 (GRCm39) D501E probably benign Het
Agbl3 T C 6: 34,791,704 (GRCm39) V602A probably benign Het
Akap12 T C 10: 4,306,895 (GRCm39) M1235T probably benign Het
Arid5a G A 1: 36,356,631 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,469 (GRCm39) D1006E probably benign Het
AY074887 T C 9: 54,858,149 (GRCm39) probably benign Het
Btbd9 T A 17: 30,746,546 (GRCm39) R93S probably benign Het
Cabp2 A T 19: 4,132,658 (GRCm39) probably null Het
Cacna1e T C 1: 154,601,439 (GRCm39) D76G probably null Het
Cd177 A G 7: 24,459,187 (GRCm39) I74T probably benign Het
Chchd1 G A 14: 20,753,310 (GRCm39) probably benign Het
Col28a1 T C 6: 8,083,763 (GRCm39) R565G possibly damaging Het
Cpvl T A 6: 53,944,797 (GRCm39) I80F probably benign Het
Csgalnact1 T C 8: 68,811,081 (GRCm39) T530A probably benign Het
Cybrd1 A G 2: 70,968,922 (GRCm39) D265G probably benign Het
Cyp2c69 A T 19: 39,865,986 (GRCm39) N202K probably benign Het
D1Pas1 A G 1: 186,700,205 (GRCm39) N45D probably damaging Het
Dclre1a A G 19: 56,528,638 (GRCm39) V839A probably damaging Het
Degs1 A T 1: 182,106,630 (GRCm39) Y210N probably damaging Het
Doc2g A G 19: 4,054,778 (GRCm39) S220G probably benign Het
Epb41l2 T A 10: 25,388,875 (GRCm39) L885Q probably damaging Het
Fabp1 A T 6: 71,180,069 (GRCm39) probably null Het
Fat2 G A 11: 55,201,328 (GRCm39) S582L probably benign Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Fras1 A G 5: 96,857,943 (GRCm39) N2079S probably benign Het
Gdf6 T C 4: 9,860,210 (GRCm39) Y431H probably damaging Het
Gfra1 A T 19: 58,442,764 (GRCm39) L6Q probably damaging Het
Gm45861 T G 8: 28,071,034 (GRCm39) S1305A unknown Het
Gse1 T C 8: 120,957,387 (GRCm39) probably benign Het
Kmt2e A G 5: 23,705,485 (GRCm39) H1303R possibly damaging Het
Lck T C 4: 129,442,658 (GRCm39) D499G possibly damaging Het
Lepr A T 4: 101,646,484 (GRCm39) Y805F probably damaging Het
Lin7a A T 10: 107,218,489 (GRCm39) Y11F possibly damaging Het
Lrrc43 A G 5: 123,641,826 (GRCm39) K559E probably damaging Het
Mprip G A 11: 59,628,215 (GRCm39) G221R probably damaging Het
Myo5c T C 9: 75,208,738 (GRCm39) V1683A probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Ncf1 G T 5: 134,254,116 (GRCm39) A219E possibly damaging Het
Nckap1l T C 15: 103,384,493 (GRCm39) I616T probably benign Het
Nlrp2 A T 7: 5,331,228 (GRCm39) C389* probably null Het
Nrg3 T C 14: 38,098,333 (GRCm39) E507G probably damaging Het
Or4p19 A G 2: 88,242,759 (GRCm39) L81P probably damaging Het
P4ha2 A T 11: 54,022,072 (GRCm39) T532S probably benign Het
Pappa A T 4: 65,269,955 (GRCm39) H1623L probably benign Het
Paqr6 A G 3: 88,273,353 (GRCm39) Y115C probably damaging Het
Pcolce2 A T 9: 95,560,521 (GRCm39) Q190L probably benign Het
Poll A G 19: 45,547,277 (GRCm39) I65T probably benign Het
Prmt9 T C 8: 78,276,086 (GRCm39) probably benign Het
Prpf39 T C 12: 65,100,074 (GRCm39) V130A possibly damaging Het
Prpf6 A G 2: 181,262,433 (GRCm39) D144G probably damaging Het
Rgs6 T A 12: 83,138,878 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,879,847 (GRCm39) probably null Het
Ripor2 A G 13: 24,855,829 (GRCm39) T90A probably benign Het
Rnf150 T C 8: 83,590,706 (GRCm39) F23S probably damaging Het
Rpp40 G A 13: 36,082,889 (GRCm39) R200W possibly damaging Het
Rtp3 G A 9: 110,815,714 (GRCm39) S217L probably benign Het
Sacs A C 14: 61,446,264 (GRCm39) K2770T probably benign Het
Scn10a A T 9: 119,442,610 (GRCm39) I1545N probably damaging Het
Scn2b G T 9: 45,037,438 (GRCm39) V162L probably damaging Het
Sema6d A G 2: 124,506,831 (GRCm39) T880A probably damaging Het
Slc36a4 A G 9: 15,630,929 (GRCm39) D16G probably benign Het
Slc4a8 T A 15: 100,689,524 (GRCm39) I378K probably benign Het
Smco2 T A 6: 146,760,354 (GRCm39) L70* probably null Het
Sptb C T 12: 76,671,862 (GRCm39) V364I probably damaging Het
Susd4 A G 1: 182,592,613 (GRCm39) H3R probably damaging Het
Tbc1d16 T C 11: 119,049,617 (GRCm39) Q293R probably damaging Het
Tnfsf9 T A 17: 57,414,317 (GRCm39) M248K possibly damaging Het
Toporsl A G 4: 52,611,211 (GRCm39) N368S possibly damaging Het
Trip11 T C 12: 101,852,126 (GRCm39) E361G probably benign Het
Trrap T A 5: 144,728,964 (GRCm39) M626K possibly damaging Het
Ttn A T 2: 76,773,218 (GRCm39) S2395T probably damaging Het
Ubqln3 T C 7: 103,790,630 (GRCm39) R487G probably damaging Het
Vdac1 A G 11: 52,265,193 (GRCm39) Y22C probably damaging Het
Vmn1r59 C T 7: 5,457,477 (GRCm39) M94I probably benign Het
Vmn2r10 G T 5: 109,149,894 (GRCm39) D383E probably damaging Het
Vmn2r115 T C 17: 23,578,785 (GRCm39) Y753H probably damaging Het
Vmn2r97 G T 17: 19,134,663 (GRCm39) C27F probably damaging Het
Wasf1 T A 10: 40,812,471 (GRCm39) V420E unknown Het
Zfp94 A T 7: 24,002,821 (GRCm39) L201Q probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,007,811 (GRCm39) probably benign Het
Zmym4 C A 4: 126,762,593 (GRCm39) R1410L probably damaging Het
Other mutations in Megf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Megf6 APN 4 154,338,264 (GRCm39) missense probably damaging 1.00
IGL01410:Megf6 APN 4 154,337,020 (GRCm39) critical splice donor site probably null
IGL01512:Megf6 APN 4 154,347,040 (GRCm39) missense possibly damaging 0.64
IGL01824:Megf6 APN 4 154,336,691 (GRCm39) missense probably damaging 1.00
IGL02172:Megf6 APN 4 154,355,149 (GRCm39) missense probably damaging 1.00
IGL02727:Megf6 APN 4 154,337,606 (GRCm39) splice site probably null
IGL02966:Megf6 APN 4 154,338,234 (GRCm39) missense probably damaging 1.00
Didactic UTSW 4 154,339,044 (GRCm39) missense probably damaging 1.00
R0118:Megf6 UTSW 4 154,339,098 (GRCm39) missense probably damaging 0.99
R0220:Megf6 UTSW 4 154,342,672 (GRCm39) missense probably damaging 1.00
R0347:Megf6 UTSW 4 154,339,092 (GRCm39) missense possibly damaging 0.90
R0383:Megf6 UTSW 4 154,349,783 (GRCm39) missense probably benign 0.01
R0417:Megf6 UTSW 4 154,352,424 (GRCm39) missense probably benign 0.06
R0526:Megf6 UTSW 4 154,343,398 (GRCm39) missense probably benign
R0528:Megf6 UTSW 4 154,343,630 (GRCm39) missense probably benign 0.04
R0928:Megf6 UTSW 4 154,261,504 (GRCm39) missense probably damaging 1.00
R1311:Megf6 UTSW 4 154,348,239 (GRCm39) splice site probably null
R1458:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1470:Megf6 UTSW 4 154,336,876 (GRCm39) splice site probably benign
R1476:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1479:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1624:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1626:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R1638:Megf6 UTSW 4 154,346,967 (GRCm39) splice site probably benign
R1777:Megf6 UTSW 4 154,355,147 (GRCm39) nonsense probably null
R1831:Megf6 UTSW 4 154,355,134 (GRCm39) missense probably benign 0.00
R1944:Megf6 UTSW 4 154,340,523 (GRCm39) missense possibly damaging 0.75
R1984:Megf6 UTSW 4 154,352,124 (GRCm39) missense probably damaging 1.00
R2109:Megf6 UTSW 4 154,261,578 (GRCm39) missense probably benign 0.39
R2448:Megf6 UTSW 4 154,351,102 (GRCm39) splice site probably null
R2880:Megf6 UTSW 4 154,337,006 (GRCm39) missense probably damaging 1.00
R4032:Megf6 UTSW 4 154,261,550 (GRCm39) nonsense probably null
R4058:Megf6 UTSW 4 154,326,989 (GRCm39) splice site probably benign
R4672:Megf6 UTSW 4 154,333,909 (GRCm39) missense probably damaging 0.99
R4688:Megf6 UTSW 4 154,338,271 (GRCm39) missense probably damaging 0.99
R4752:Megf6 UTSW 4 154,336,895 (GRCm39) missense probably damaging 1.00
R4863:Megf6 UTSW 4 154,338,738 (GRCm39) critical splice donor site probably null
R4909:Megf6 UTSW 4 154,349,848 (GRCm39) missense probably damaging 1.00
R4942:Megf6 UTSW 4 154,338,277 (GRCm39) missense probably damaging 1.00
R4981:Megf6 UTSW 4 154,351,907 (GRCm39) missense possibly damaging 0.95
R4990:Megf6 UTSW 4 154,351,683 (GRCm39) missense possibly damaging 0.94
R5001:Megf6 UTSW 4 154,352,517 (GRCm39) missense probably damaging 1.00
R5189:Megf6 UTSW 4 154,336,980 (GRCm39) missense probably benign 0.31
R5210:Megf6 UTSW 4 154,354,273 (GRCm39) intron probably benign
R5220:Megf6 UTSW 4 154,338,295 (GRCm39) critical splice donor site probably null
R5250:Megf6 UTSW 4 154,340,467 (GRCm39) missense possibly damaging 0.65
R5697:Megf6 UTSW 4 154,342,686 (GRCm39) missense probably null 0.15
R5808:Megf6 UTSW 4 154,352,119 (GRCm39) missense probably benign
R5916:Megf6 UTSW 4 154,333,882 (GRCm39) critical splice acceptor site probably null
R6054:Megf6 UTSW 4 154,347,636 (GRCm39) missense probably benign 0.06
R6075:Megf6 UTSW 4 154,347,056 (GRCm39) nonsense probably null
R6515:Megf6 UTSW 4 154,343,376 (GRCm39) missense possibly damaging 0.84
R6599:Megf6 UTSW 4 154,342,544 (GRCm39) splice site probably null
R6811:Megf6 UTSW 4 154,336,618 (GRCm39) missense probably damaging 1.00
R6925:Megf6 UTSW 4 154,339,044 (GRCm39) missense probably damaging 1.00
R7117:Megf6 UTSW 4 154,343,379 (GRCm39) missense possibly damaging 0.78
R7163:Megf6 UTSW 4 154,351,898 (GRCm39) missense probably damaging 0.98
R7345:Megf6 UTSW 4 154,351,772 (GRCm39) missense probably benign
R7580:Megf6 UTSW 4 154,355,201 (GRCm39) nonsense probably null
R7649:Megf6 UTSW 4 154,349,542 (GRCm39) missense probably damaging 0.96
R7702:Megf6 UTSW 4 154,354,927 (GRCm39) missense probably benign 0.00
R8010:Megf6 UTSW 4 154,354,964 (GRCm39) missense probably benign 0.13
R8175:Megf6 UTSW 4 154,353,076 (GRCm39) nonsense probably null
R8231:Megf6 UTSW 4 154,336,975 (GRCm39) missense probably damaging 1.00
R8436:Megf6 UTSW 4 154,349,649 (GRCm39) missense probably damaging 1.00
R8460:Megf6 UTSW 4 154,350,634 (GRCm39) nonsense probably null
R8738:Megf6 UTSW 4 154,352,436 (GRCm39) missense probably benign
R8854:Megf6 UTSW 4 154,352,469 (GRCm39) missense probably damaging 1.00
R8896:Megf6 UTSW 4 154,326,860 (GRCm39) missense probably damaging 0.99
R9098:Megf6 UTSW 4 154,354,160 (GRCm39) missense probably damaging 0.99
R9147:Megf6 UTSW 4 154,339,130 (GRCm39) missense probably benign 0.18
R9148:Megf6 UTSW 4 154,339,130 (GRCm39) missense probably benign 0.18
R9161:Megf6 UTSW 4 154,352,172 (GRCm39) missense probably benign 0.44
R9355:Megf6 UTSW 4 154,338,282 (GRCm39) missense probably damaging 1.00
R9386:Megf6 UTSW 4 154,340,534 (GRCm39) missense probably damaging 1.00
R9404:Megf6 UTSW 4 154,348,225 (GRCm39) missense
R9469:Megf6 UTSW 4 154,335,369 (GRCm39) missense probably damaging 1.00
R9472:Megf6 UTSW 4 154,333,910 (GRCm39) missense probably damaging 1.00
R9777:Megf6 UTSW 4 154,343,617 (GRCm39) missense probably damaging 1.00
Z1177:Megf6 UTSW 4 154,322,283 (GRCm39) missense probably benign 0.12
Z1177:Megf6 UTSW 4 154,354,198 (GRCm39) nonsense probably null
Z1177:Megf6 UTSW 4 154,352,204 (GRCm39) nonsense probably null
Z1177:Megf6 UTSW 4 154,352,139 (GRCm39) missense probably damaging 0.99
Z1177:Megf6 UTSW 4 154,352,138 (GRCm39) missense possibly damaging 0.48
Z1177:Megf6 UTSW 4 154,335,306 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATAGGCTAGGACACAGTGTTAC -3'
(R):5'- AACATCATAGGGCAGCCTAGC -3'

Sequencing Primer
(F):5'- CTAGGACACAGTGTTACGGGGG -3'
(R):5'- GGAACTGCCATCCCCAAGG -3'
Posted On 2019-05-13