Incidental Mutation 'R1831:Megf6'
ID 207310
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 039858-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1831 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154355134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1483 (T1483M)
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: T1483M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: T1483M

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,627,255 (GRCm39) D77G probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Capn8 G A 1: 182,438,666 (GRCm39) probably null Het
Carmil1 A T 13: 24,348,862 (GRCm39) V15E probably benign Het
Ccdc42 T A 11: 68,481,805 (GRCm39) M133K probably benign Het
Cd5 T C 19: 10,696,933 (GRCm39) D485G probably damaging Het
Cdhr18 A G 14: 13,899,619 (GRCm38) I101T probably damaging Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cep162 T A 9: 87,088,985 (GRCm39) I966L probably damaging Het
Cklf T C 8: 104,977,687 (GRCm39) F13S probably damaging Het
Csf2rb C T 15: 78,232,453 (GRCm39) P587S probably benign Het
Cyp21a1 A T 17: 35,023,009 (GRCm39) probably benign Het
Cyp26a1 A T 19: 37,689,071 (GRCm39) L335F probably damaging Het
Dcst1 A G 3: 89,260,057 (GRCm39) F596L probably damaging Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dnah6 G A 6: 73,158,780 (GRCm39) R608C possibly damaging Het
Dnajb5 A T 4: 42,957,333 (GRCm39) T311S probably benign Het
Dthd1 A G 5: 62,984,572 (GRCm39) T426A probably benign Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Efemp1 A T 11: 28,871,442 (GRCm39) D347V possibly damaging Het
Ephb4 T A 5: 137,352,677 (GRCm39) Y87N probably damaging Het
Ern1 A T 11: 106,290,668 (GRCm39) probably null Het
Fam184a A T 10: 53,523,180 (GRCm39) D164E probably damaging Het
Fkbp10 A G 11: 100,314,045 (GRCm39) E351G probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Frem1 A G 4: 82,939,074 (GRCm39) S3P possibly damaging Het
Gpr3 C T 4: 132,938,454 (GRCm39) A73T possibly damaging Het
Gprc6a T C 10: 51,491,902 (GRCm39) T616A probably benign Het
Gtf3c2 G T 5: 31,325,713 (GRCm39) Q452K probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hacd2 T C 16: 34,922,434 (GRCm39) Y208H probably damaging Het
Hid1 C T 11: 115,239,729 (GRCm39) G734R probably damaging Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Itga11 T A 9: 62,689,300 (GRCm39) L1155Q probably damaging Het
Kmt2d A G 15: 98,753,224 (GRCm39) S157P probably damaging Het
Lamb3 A G 1: 193,017,187 (GRCm39) T793A probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ltn1 C T 16: 87,197,034 (GRCm39) S1213N possibly damaging Het
Meak7 T C 8: 120,497,992 (GRCm39) M171V probably null Het
Med1 T C 11: 98,047,437 (GRCm39) probably benign Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Ndst3 T A 3: 123,395,127 (GRCm39) H501L probably benign Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nmbr C A 10: 14,642,609 (GRCm39) T56K probably benign Het
Nxpe2 T A 9: 48,237,452 (GRCm39) M268L probably benign Het
Oasl2 A G 5: 115,039,367 (GRCm39) Y185C probably benign Het
Ogdhl T A 14: 32,059,484 (GRCm39) V377E probably damaging Het
Or11g1 T A 14: 50,651,658 (GRCm39) probably null Het
Or14j4 G A 17: 37,920,730 (GRCm39) S304L possibly damaging Het
Ovgp1 A G 3: 105,892,384 (GRCm39) R346G probably benign Het
Parp14 T A 16: 35,678,958 (GRCm39) N337Y possibly damaging Het
Pask A C 1: 93,248,491 (GRCm39) probably null Het
Pax3 G T 1: 78,108,977 (GRCm39) T227K probably damaging Het
Pik3r6 T A 11: 68,434,860 (GRCm39) M594K probably benign Het
Pms1 A G 1: 53,246,370 (GRCm39) F390L probably benign Het
Polg G A 7: 79,109,518 (GRCm39) T433I probably benign Het
Prex1 T C 2: 166,427,021 (GRCm39) Y898C probably damaging Het
Ranbp2 T A 10: 58,315,044 (GRCm39) C1921* probably null Het
Rif1 T A 2: 51,968,507 (GRCm39) L230* probably null Het
Rnf148 A G 6: 23,654,772 (GRCm39) F75L probably damaging Het
Rps18-ps6 A G 13: 97,897,053 (GRCm39) V15A probably benign Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sirt1 T C 10: 63,156,425 (GRCm39) D735G probably benign Het
Spag5 T A 11: 78,205,082 (GRCm39) N622K probably benign Het
Sspo T G 6: 48,466,720 (GRCm39) C3935W probably damaging Het
Strbp A G 2: 37,515,277 (GRCm39) S250P possibly damaging Het
Tgfbr2 T C 9: 115,919,604 (GRCm39) T541A possibly damaging Het
Thada A C 17: 84,538,542 (GRCm39) S1489A probably damaging Het
Tiam1 A T 16: 89,657,182 (GRCm39) S685T probably benign Het
Tpsb2 T A 17: 25,585,494 (GRCm39) probably null Het
Trip4 C A 9: 65,765,622 (GRCm39) G359V probably damaging Het
Tsr1 T C 11: 74,791,182 (GRCm39) F254L probably benign Het
Vmn1r120 T C 7: 20,787,556 (GRCm39) K52E probably benign Het
Vmn1r29 C A 6: 58,284,692 (GRCm39) Y137* probably null Het
Vmn2r52 T C 7: 9,893,415 (GRCm39) K575E probably damaging Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C 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
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'- TTTGCGAGTGTCAACAGGGC -3'
(R):5'- AGCTCCGATGGATGTCTATGC -3'

Sequencing Primer
(F):5'- TGTGACCCTGTCAGTGGC -3'
(R):5'- GCACAGTGCCTAGTCTGAG -3'
Posted On 2014-06-23