Incidental Mutation 'R0417:Megf6'
ID 40389
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 038619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0417 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154352424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1261 (E1261G)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897] [ENSMUST00000152159]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030897
AA Change: E1261G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: E1261G

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 noncoding transcript
Transcript: ENSMUST00000127088
Predicted Effect unknown
Transcript: ENSMUST00000128700
AA Change: E128G
SMART Domains Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: E128G

DomainStartEndE-ValueType
EGF_Lam 3 42 3.1e-2 SMART
EGF 32 73 7.53e-1 SMART
EGF_like 46 85 8.92e-1 SMART
EGF 84 116 7.13e-2 SMART
EGF 127 159 1.73e0 SMART
EGF 170 202 6.55e-1 SMART
EGF 213 245 4.39e-2 SMART
EGF_Lam 261 300 7.64e-2 SMART
EGF 299 331 1.51e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142110
Predicted Effect probably benign
Transcript: ENSMUST00000152159
AA Change: E980G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: E980G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,199,244 (GRCm39) K217R probably damaging Het
1810024B03Rik A G 2: 127,028,864 (GRCm39) Y112H probably damaging Het
Acot2 T C 12: 84,037,387 (GRCm39) Y234H probably benign Het
Alox12e C T 11: 70,212,691 (GRCm39) V53I probably benign Het
Ankrd50 T C 3: 38,510,510 (GRCm39) H619R probably damaging Het
Arfgef3 A T 10: 18,479,259 (GRCm39) L1452Q probably damaging Het
Arhgap42 T C 9: 9,180,034 (GRCm39) S82G possibly damaging Het
Arhgef18 T C 8: 3,438,957 (GRCm39) probably benign Het
Bicra C A 7: 15,706,247 (GRCm39) R1398L probably damaging Het
Boc T C 16: 44,340,597 (GRCm39) T118A probably benign Het
Btnl9 A G 11: 49,066,422 (GRCm39) Y381H probably damaging Het
Cbln3 T G 14: 56,121,586 (GRCm39) E20A probably benign Het
Cdc42ep5 A G 7: 4,154,482 (GRCm39) L102P probably damaging Het
Csrnp3 A G 2: 65,849,887 (GRCm39) Y171C probably benign Het
Cyp2d9 A T 15: 82,340,152 (GRCm39) I181F probably damaging Het
Cyp7b1 T A 3: 18,150,855 (GRCm39) T295S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dok1 A T 6: 83,008,550 (GRCm39) D377E probably damaging Het
Eed A T 7: 89,620,760 (GRCm39) Y87* probably null Het
Entpd3 T C 9: 120,386,487 (GRCm39) V156A probably damaging Het
Exo5 T A 4: 120,779,269 (GRCm39) T199S probably damaging Het
Extl2 T C 3: 115,818,006 (GRCm39) I106T probably benign Het
Ezh2 A G 6: 47,528,660 (GRCm39) C291R probably benign Het
Flvcr1 A T 1: 190,743,416 (GRCm39) M466K probably benign Het
Fras1 G T 5: 96,839,231 (GRCm39) M1583I probably benign Het
Fzd9 G T 5: 135,278,473 (GRCm39) R471S probably damaging Het
Galr1 A T 18: 82,423,665 (GRCm39) F204Y probably damaging Het
Gna11 A T 10: 81,366,738 (GRCm39) I324N probably damaging Het
Gucy1a2 A G 9: 3,759,484 (GRCm39) E430G possibly damaging Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Ikzf1 A C 11: 11,719,352 (GRCm39) N353T probably benign Het
Il7 T A 3: 7,641,087 (GRCm39) T110S probably damaging Het
Keg1 A G 19: 12,688,424 (GRCm39) N53D probably damaging Het
Klhl21 T C 4: 152,099,964 (GRCm39) I558T probably damaging Het
Lca5l G A 16: 95,963,853 (GRCm39) T357M probably damaging Het
Lrba T C 3: 86,622,961 (GRCm39) S2448P probably damaging Het
Map3k6 T A 4: 132,975,393 (GRCm39) Y709* probably null Het
Mettl3 C T 14: 52,534,155 (GRCm39) G473D probably damaging Het
Mga A G 2: 119,733,271 (GRCm39) I40V probably damaging Het
Mmp13 T A 9: 7,276,602 (GRCm39) D232E probably benign Het
Nampt T C 12: 32,883,100 (GRCm39) V95A probably benign Het
Nbeal1 T C 1: 60,286,893 (GRCm39) V905A probably benign Het
Nomo1 A T 7: 45,718,122 (GRCm39) E840V possibly damaging Het
Nprl2 A T 9: 107,420,497 (GRCm39) I101F probably damaging Het
Nup160 A T 2: 90,565,771 (GRCm39) I1378F possibly damaging Het
Ogdhl T C 14: 32,048,936 (GRCm39) S69P probably damaging Het
Or2y17 T A 11: 49,231,500 (GRCm39) I47N possibly damaging Het
Or4a68 C A 2: 89,270,519 (GRCm39) V35L possibly damaging Het
Or4k77 A G 2: 111,199,450 (GRCm39) S158G possibly damaging Het
Or5be3 A T 2: 86,863,789 (GRCm39) Y259N probably damaging Het
Or8b12i G A 9: 20,082,510 (GRCm39) A119V probably damaging Het
Or8c16 A G 9: 38,130,751 (GRCm39) I211V probably benign Het
Or8c8 T C 9: 38,165,160 (GRCm39) F149S probably benign Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pclo T A 5: 14,763,036 (GRCm39) H3836Q unknown Het
Prkcg A T 7: 3,352,820 (GRCm39) probably null Het
Ror1 A T 4: 100,269,197 (GRCm39) H345L possibly damaging Het
Slc36a2 C T 11: 55,072,370 (GRCm39) probably null Het
Slc40a1 G A 1: 45,950,534 (GRCm39) P306L possibly damaging Het
Slc9a8 C A 2: 167,299,264 (GRCm39) T239K probably benign Het
Snapc3 A G 4: 83,368,399 (GRCm39) I299V probably benign Het
Sp3 G A 2: 72,801,845 (GRCm39) A56V possibly damaging Het
Spag17 T A 3: 99,972,870 (GRCm39) S1361T probably benign Het
Sptbn2 A G 19: 4,787,954 (GRCm39) T978A probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Stpg2 A G 3: 138,924,082 (GRCm39) T162A probably damaging Het
Stxbp6 G A 12: 44,949,740 (GRCm39) T63M probably damaging Het
Tatdn1 A C 15: 58,793,199 (GRCm39) I69S probably benign Het
Tbata A T 10: 61,016,118 (GRCm39) D198V probably damaging Het
Tbc1d5 T C 17: 51,063,733 (GRCm39) I638V probably benign Het
Tomm70a A G 16: 56,970,266 (GRCm39) D548G probably benign Het
Ust A G 10: 8,121,700 (GRCm39) F303L probably damaging Het
Vps13d A G 4: 144,703,130 (GRCm39) S4306P probably benign Het
Zbed6 A T 1: 133,586,276 (GRCm39) S354T probably benign Het
Zfp691 A G 4: 119,027,693 (GRCm39) S180P possibly 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
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
R7023:Megf6 UTSW 4 154,338,602 (GRCm39) missense possibly damaging 0.95
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'- TTTGGCAAGGACTGTGAGCACC -3'
(R):5'- AAAGTCCCTTTCCTGGGCAGGATG -3'

Sequencing Primer
(F):5'- ACTGTCAGCAACGTGAGTC -3'
(R):5'- CTCAGTTATCTGGGACAGAGC -3'
Posted On 2013-05-23