Incidental Mutation 'R0347:Megf6'
ID 38437
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 038554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0347 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154339092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 543 (D543G)
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: D543G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: D543G

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: D435G

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: D435G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183595
Meta Mutation Damage Score 0.1248 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,913,748 (GRCm39) E908G probably benign Het
Abcb5 T A 12: 118,928,986 (GRCm39) probably benign Het
Adhfe1 T A 1: 9,623,655 (GRCm39) F102Y probably benign Het
Aff4 A G 11: 53,290,915 (GRCm39) Y625C probably benign Het
Alox5 T C 6: 116,390,513 (GRCm39) E488G possibly damaging Het
Ankmy2 T C 12: 36,243,753 (GRCm39) C323R probably damaging Het
Ankrd28 A G 14: 31,423,979 (GRCm39) *1084R probably null Het
Apol10a A T 15: 77,372,891 (GRCm39) I176F probably damaging Het
Arhgap26 C T 18: 38,750,797 (GRCm39) T70I unknown Het
Arid2 A G 15: 96,268,833 (GRCm39) N982S probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camsap3 A G 8: 3,652,029 (GRCm39) D291G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdc20b G T 13: 113,196,361 (GRCm39) G162V probably damaging Het
Cep44 T G 8: 56,998,510 (GRCm39) E56A probably damaging Het
Cfap410 A T 10: 77,820,256 (GRCm39) I209F probably damaging Het
Cfap65 A G 1: 74,965,603 (GRCm39) L469P probably damaging Het
Cilp T A 9: 65,187,435 (GRCm39) C1177S probably benign Het
Ctnnbip1 C T 4: 149,630,211 (GRCm39) P7S probably damaging Het
Cyp11a1 T C 9: 57,923,543 (GRCm39) probably benign Het
Cyp3a11 C T 5: 145,802,735 (GRCm39) V253M possibly damaging Het
D630045J12Rik C A 6: 38,158,327 (GRCm39) V1117L probably damaging Het
Dnah7b T A 1: 46,280,104 (GRCm39) S2678T probably damaging Het
Dock1 T C 7: 134,365,596 (GRCm39) I428T probably damaging Het
Fam83f A G 15: 80,556,458 (GRCm39) D114G probably damaging Het
Flt3 T A 5: 147,294,802 (GRCm39) N423I probably damaging Het
Fnbp1l A T 3: 122,383,824 (GRCm39) F31L probably damaging Het
Glrx3 G A 7: 137,039,430 (GRCm39) E10K unknown Het
Gm12185 T C 11: 48,806,009 (GRCm39) E394G probably benign Het
Gpatch1 C T 7: 34,997,056 (GRCm39) V381M probably benign Het
Grm8 T C 6: 27,981,221 (GRCm39) S230G probably benign Het
Heyl A T 4: 123,127,733 (GRCm39) D25V probably benign Het
Junb G A 8: 85,705,107 (GRCm39) probably benign Het
Klhl29 C A 12: 5,134,354 (GRCm39) V747F probably damaging Het
Krt77 T C 15: 101,768,304 (GRCm39) H569R unknown Het
Ldhb T C 6: 142,439,859 (GRCm39) N227S probably benign Het
Mrps23 A T 11: 88,101,519 (GRCm39) Q136L probably benign Het
Myh2 C T 11: 67,076,130 (GRCm39) probably benign Het
Nadk2 T A 15: 9,084,287 (GRCm39) D133E probably benign Het
Neurod4 G A 10: 130,106,980 (GRCm39) T98I probably damaging Het
Nfatc2 G T 2: 168,378,210 (GRCm39) T465K probably damaging Het
Nipbl A G 15: 8,380,216 (GRCm39) S859P probably benign Het
Nipsnap3a T C 4: 52,997,155 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,415 (GRCm39) K439E possibly damaging Het
Or10q3 A T 19: 11,847,797 (GRCm39) L261H probably damaging Het
Or1e32 C T 11: 73,705,137 (GRCm39) G257D probably damaging Het
Or2a20 T C 6: 43,194,296 (GRCm39) F150L probably benign Het
Pds5b T A 5: 150,659,892 (GRCm39) probably benign Het
Pira13 A T 7: 3,825,873 (GRCm39) V332E probably damaging Het
Plch1 A G 3: 63,660,737 (GRCm39) M282T probably damaging Het
Plch2 C A 4: 155,071,178 (GRCm39) R1067L possibly damaging Het
Polr1has T A 17: 37,276,207 (GRCm39) M114K probably damaging Het
Pou2f2 A C 7: 24,797,126 (GRCm39) F206V probably damaging Het
Prss50 A G 9: 110,691,418 (GRCm39) I49V probably damaging Het
Rexo5 T A 7: 119,423,119 (GRCm39) probably null Het
Rgl2 C T 17: 34,151,712 (GRCm39) T252I probably damaging Het
Rp1l1 A T 14: 64,268,253 (GRCm39) K1280* probably null Het
Rpl24 T A 16: 55,790,540 (GRCm39) probably null Het
Satb1 T A 17: 52,046,934 (GRCm39) K763* probably null Het
Scart2 T A 7: 139,877,767 (GRCm39) H800Q probably damaging Het
Sema6a T A 18: 47,424,196 (GRCm39) R237S probably damaging Het
Spg11 T C 2: 121,927,850 (GRCm39) T645A probably damaging Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Tanc1 T C 2: 59,673,335 (GRCm39) V1480A probably benign Het
Tbc1d2 T C 4: 46,620,574 (GRCm39) D412G possibly damaging Het
Tecrl T C 5: 83,442,479 (GRCm39) E198G probably damaging Het
Tigd4 A G 3: 84,501,167 (GRCm39) D28G probably damaging Het
Trp53bp2 T G 1: 182,269,213 (GRCm39) L226V probably benign Het
Ttll13 T C 7: 79,910,253 (GRCm39) S799P possibly damaging Het
Vps13c A T 9: 67,817,515 (GRCm39) Q1062H possibly damaging Het
Wnt10a T G 1: 74,832,702 (GRCm39) H98Q probably damaging Het
Zbtb47 C T 9: 121,592,168 (GRCm39) P198S probably damaging Het
Zfp959 T A 17: 56,204,180 (GRCm39) Y69* probably null 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
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
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'- TCCCATTTCAAGAGCTGCCGAC -3'
(R):5'- GTGGACATACTCAGATTCTTCTCCCCA -3'

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