Incidental Mutation 'R5001:Megf6'
ID 478084
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 042595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5001 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154352517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1292 (L1292H)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897] [ENSMUST00000152159]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030897
AA Change: L1292H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: L1292H

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: L159H
SMART Domains Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: L159H

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 possibly damaging
Transcript: ENSMUST00000152159
AA Change: L1011H

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: L1011H

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 G A 12: 4,248,434 (GRCm39) V499M possibly damaging Het
Aff4 T C 11: 53,295,184 (GRCm39) S795P probably damaging Het
Ank G A 15: 27,562,819 (GRCm39) V176I probably damaging Het
Ankfn1 A G 11: 89,332,268 (GRCm39) I446T possibly damaging Het
Arhgap33 C A 7: 30,232,441 (GRCm39) S32I possibly damaging Het
Ascc3 T A 10: 50,699,744 (GRCm39) Y1856N probably damaging Het
Atf3 T C 1: 190,909,472 (GRCm39) T66A probably benign Het
Atf7ip T C 6: 136,538,386 (GRCm39) C548R probably damaging Het
Bag6 A G 17: 35,364,152 (GRCm39) T841A probably damaging Het
Bbof1 A T 12: 84,473,630 (GRCm39) Q320L possibly damaging Het
Bmp2k A T 5: 97,201,001 (GRCm39) Q307L probably damaging Het
Btaf1 T A 19: 36,964,052 (GRCm39) N874K possibly damaging Het
Calr4 G A 4: 109,096,179 (GRCm39) probably null Het
Camk1d T C 2: 5,317,912 (GRCm39) I248V possibly damaging Het
Ccdc177 G A 12: 80,804,160 (GRCm39) R705C unknown Het
Cdk18 C T 1: 132,046,587 (GRCm39) probably null Het
Cers4 A G 8: 4,565,565 (GRCm39) S4G probably benign Het
Cfap54 A G 10: 92,800,396 (GRCm39) V1604A probably benign Het
Chd8 C T 14: 52,441,372 (GRCm39) G907S probably benign Het
Cilk1 T C 9: 78,038,801 (GRCm39) S17P probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Cntd1 T C 11: 101,176,557 (GRCm39) V218A possibly damaging Het
Cog7 A T 7: 121,549,109 (GRCm39) V384E probably damaging Het
Col5a2 A G 1: 45,542,058 (GRCm39) V6A unknown Het
Col7a1 T C 9: 108,794,146 (GRCm39) probably null Het
Cpsf6 T A 10: 117,203,866 (GRCm39) I29L possibly damaging Het
Cyp3a13 T C 5: 137,897,178 (GRCm39) T379A probably benign Het
Ddx46 T C 13: 55,800,732 (GRCm39) S296P probably damaging Het
Dmbt1 A G 7: 130,651,742 (GRCm39) D328G probably damaging Het
Dnah8 T G 17: 31,006,159 (GRCm39) L3692W probably damaging Het
Dnmt3l A C 10: 77,895,565 (GRCm39) S368R probably null Het
Egfr A G 11: 16,854,434 (GRCm39) K869E probably damaging Het
Ehd1 G A 19: 6,347,724 (GRCm39) M359I probably benign Het
F5 A T 1: 164,023,139 (GRCm39) T1566S probably benign Het
Flrt2 T C 12: 95,745,725 (GRCm39) I21T probably benign Het
Galnt1 T A 18: 24,404,812 (GRCm39) I383K probably benign Het
Ghdc G T 11: 100,657,660 (GRCm39) A523D probably damaging Het
Gm24022 A G 12: 113,393,399 (GRCm39) probably benign Het
Golga3 T C 5: 110,353,643 (GRCm39) S934P probably damaging Het
Gpr135 T A 12: 72,117,282 (GRCm39) T162S probably benign Het
Gucd1 G A 10: 75,353,036 (GRCm39) probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Igkv6-15 T C 6: 70,383,633 (GRCm39) Y56C probably damaging Het
Il22ra1 A T 4: 135,460,415 (GRCm39) Y57F probably damaging Het
Irak4 A G 15: 94,456,154 (GRCm39) E247G possibly damaging Het
Kank3 T C 17: 34,040,746 (GRCm39) V13A possibly damaging Het
Klhl1 A T 14: 96,374,046 (GRCm39) S667T probably damaging Het
Klhl6 T G 16: 19,765,741 (GRCm39) *620C probably null Het
Lct A G 1: 128,235,978 (GRCm39) L343P probably damaging Het
Lgr6 G T 1: 134,918,370 (GRCm39) P264T probably benign Het
Lilrb4a T A 10: 51,367,516 (GRCm39) probably null Het
Lin7a G T 10: 107,218,530 (GRCm39) G25* probably null Het
Lmnb2 G A 10: 80,753,946 (GRCm39) T36M probably damaging Het
Manba T C 3: 135,273,391 (GRCm39) F775S probably benign Het
Marchf6 A G 15: 31,465,468 (GRCm39) V812A probably damaging Het
Myo18b T G 5: 112,909,206 (GRCm39) Q1979P probably damaging Het
Myoz1 T C 14: 20,703,769 (GRCm39) M59V probably damaging Het
Naa35 T C 13: 59,773,345 (GRCm39) I100T possibly damaging Het
Nox4 A T 7: 87,010,011 (GRCm39) Y404F probably damaging Het
Ntn1 T C 11: 68,151,358 (GRCm39) Y441C probably damaging Het
Onecut3 A G 10: 80,331,154 (GRCm39) T105A unknown Het
Or10ak8 C A 4: 118,774,440 (GRCm39) V75F probably damaging Het
Or1n1 T C 2: 36,750,082 (GRCm39) T93A probably benign Het
Or4d5 G A 9: 40,012,523 (GRCm39) H88Y probably benign Het
Pabpc1l A G 2: 163,884,438 (GRCm39) S392G probably benign Het
Pan3 T A 5: 147,463,492 (GRCm39) probably null Het
Pcdha4 G A 18: 37,088,001 (GRCm39) S728N probably benign Het
Pds5a T C 5: 65,854,128 (GRCm39) D38G probably damaging Het
Pgm2l1 A G 7: 99,921,583 (GRCm39) I605V probably benign Het
Phip T C 9: 82,778,072 (GRCm39) probably null Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Ppp2r2a A T 14: 67,259,757 (GRCm39) L313* probably null Het
Ppp4c A G 7: 126,386,709 (GRCm39) F126S probably damaging Het
Ptger2 C A 14: 45,226,824 (GRCm39) R135S probably damaging Het
Rab11fip5 T A 6: 85,324,788 (GRCm39) E506D probably damaging Het
Rdh12 G A 12: 79,259,516 (GRCm39) G133R probably damaging Het
Rims2 A T 15: 39,315,824 (GRCm39) D610V probably benign Het
Saa1 T A 7: 46,390,132 (GRCm39) Y122F probably damaging Het
Septin10 A T 10: 59,012,811 (GRCm39) V269E probably damaging Het
Serpina3n T A 12: 104,374,998 (GRCm39) D23E probably benign Het
Serpinb11 A G 1: 107,304,598 (GRCm39) K188E possibly damaging Het
Slc18a3 C T 14: 32,185,736 (GRCm39) V216M possibly damaging Het
Slc19a3 G T 1: 83,000,341 (GRCm39) N225K probably benign Het
Slc4a1 T A 11: 102,242,329 (GRCm39) I797F probably benign Het
Slx9 A G 10: 77,325,850 (GRCm39) V154A probably benign Het
Spic A G 10: 88,511,761 (GRCm39) M165T possibly damaging Het
Timm44 A T 8: 4,325,886 (GRCm39) M1K probably null Het
Tmc6 A G 11: 117,661,610 (GRCm39) L572P probably benign Het
Tnc G A 4: 63,918,299 (GRCm39) T1204M probably benign Het
Tnc G A 4: 63,902,726 (GRCm39) T1517I probably damaging Het
Trip11 A T 12: 101,851,169 (GRCm39) L680* probably null Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Tulp3 A C 6: 128,302,031 (GRCm39) V330G probably damaging Het
Upf1 A G 8: 70,787,350 (GRCm39) S835P probably damaging Het
Wdr64 A G 1: 175,620,525 (GRCm39) probably null Het
Yju2b G A 8: 84,985,304 (GRCm39) P322S probably benign Het
Zbtb40 A G 4: 136,723,461 (GRCm39) L643P probably damaging Het
Zc3h18 A T 8: 123,110,259 (GRCm39) D36V 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
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'- AGTTCACCTCCAGCTTGTG -3'
(R):5'- ACAGGGTTGTGCTCAGTTATC -3'

Sequencing Primer
(F):5'- TGTGTAGCAGACCTCCACC -3'
(R):5'- TCCTCTGGGGTCACACTGATG -3'
Posted On 2017-05-23