Incidental Mutation 'R4990:Megf6'
ID 386118
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 042584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4990 (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 154351683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1132 (E1132G)
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: E1132G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: E1132G

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 probably benign
Transcript: ENSMUST00000128700
SMART Domains Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751

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
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Cacna1b A G 2: 24,568,886 (GRCm39) probably null Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G 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
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'- TGTAGACCCAGCCTAGAGAACC -3'
(R):5'- AGGTAAGCTTTCTGGGAACG -3'

Sequencing Primer
(F):5'- GCCACTGATGCTGAGAAGC -3'
(R):5'- TCTGGGAACGGAGCAGTG -3'
Posted On 2016-05-10