Incidental Mutation 'R7163:Megf6'
ID 557719
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 045330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7163 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154351898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1166 (R1166C)
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: R1166C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: R1166C

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
SMART Domains Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: R77C

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 possibly damaging
Transcript: ENSMUST00000152159
AA Change: R929C

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: R929C

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,319,372 (GRCm39) K4R possibly damaging Het
A830018L16Rik G A 1: 11,484,848 (GRCm39) G19D probably damaging Het
Abca3 A T 17: 24,583,916 (GRCm39) M102L probably benign Het
Adam19 A T 11: 46,022,544 (GRCm39) Y499F probably benign Het
Adck2 T C 6: 39,560,797 (GRCm39) V444A probably damaging Het
Adck5 T C 15: 76,478,016 (GRCm39) V214A probably damaging Het
Agrn G A 4: 156,262,966 (GRCm39) T437M probably damaging Het
Aox3 A T 1: 58,158,671 (GRCm39) I81F probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Blmh A G 11: 76,836,987 (GRCm39) Y23C unknown Het
Cacnb1 A G 11: 97,903,726 (GRCm39) V109A probably benign Het
Ccdc27 C T 4: 154,117,282 (GRCm39) R555H not run Het
Cep170 A C 1: 176,602,031 (GRCm39) S358R probably damaging Het
Cfap46 A T 7: 139,197,994 (GRCm39) probably null Het
Dclk1 G T 3: 55,163,549 (GRCm39) E214* probably null Het
Dhrs1 A G 14: 55,976,838 (GRCm39) L282P probably benign Het
Dlgap5 A G 14: 47,637,095 (GRCm39) L461P probably damaging Het
Elp2 G T 18: 24,747,503 (GRCm39) C185F probably benign Het
Fbxw7 T C 3: 84,832,892 (GRCm39) probably benign Het
Fga T C 3: 82,933,571 (GRCm39) V17A probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm43302 T A 5: 105,441,493 (GRCm39) probably null Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hcn1 A T 13: 118,062,083 (GRCm39) I450L unknown Het
Hydin T A 8: 111,329,968 (GRCm39) C4901S probably benign Het
Ino80 A T 2: 119,223,356 (GRCm39) I1186N probably damaging Het
Ints7 T A 1: 191,349,949 (GRCm39) I781N possibly damaging Het
Irf2 T A 8: 47,290,712 (GRCm39) V178E possibly damaging Het
Iws1 T A 18: 32,226,277 (GRCm39) S722T possibly damaging Het
Jak1 G A 4: 101,032,385 (GRCm39) S407F probably damaging Het
Kdm3a G T 6: 71,609,061 (GRCm39) D55E probably damaging Het
Kdm5d T C Y: 899,940 (GRCm39) S169P probably damaging Het
Kif15 A G 9: 122,846,722 (GRCm39) N1348S probably damaging Het
Kpna7 G A 5: 144,939,206 (GRCm39) P187L unknown Het
Krt35 A T 11: 99,986,984 (GRCm39) F10Y probably damaging Het
Lemd1 G T 1: 132,184,475 (GRCm39) V131F probably benign Het
Mcf2l G A 8: 12,965,439 (GRCm39) R4H probably benign Het
Mmp11 T C 10: 75,762,410 (GRCm39) I308V possibly damaging Het
Mrgpra4 A G 7: 47,631,238 (GRCm39) V121A probably benign Het
Myl2 T A 5: 122,239,885 (GRCm39) I26N probably damaging Het
Myo15a A G 11: 60,389,195 (GRCm39) M862V Het
Nckap5l T C 15: 99,331,354 (GRCm39) H64R probably damaging Het
Nipsnap2 A C 5: 129,821,774 (GRCm39) E90A probably benign Het
Nup210 G T 6: 91,050,313 (GRCm39) N385K probably damaging Het
Or2h2 T C 17: 37,396,937 (GRCm39) N40S probably damaging Het
Or2t48 C A 11: 58,419,994 (GRCm39) E273* probably null Het
Or5m11b T A 2: 85,805,932 (GRCm39) L115Q probably damaging Het
Or8c19-ps1 T C 9: 38,220,345 (GRCm39) F85L probably damaging Het
Or9e1 T C 11: 58,732,012 (GRCm39) V24A probably benign Het
Pcmt1 A T 10: 7,513,922 (GRCm39) M249K probably benign Het
Pde3a T C 6: 141,433,270 (GRCm39) L767P probably damaging Het
Pde8a T C 7: 80,956,456 (GRCm39) V285A possibly damaging Het
Pla2g4a T A 1: 149,716,416 (GRCm39) K690* probably null Het
Plxna4 T C 6: 32,473,691 (GRCm39) H442R probably benign Het
Polr1b A G 2: 128,967,931 (GRCm39) D1108G probably benign Het
Prkn G A 17: 12,280,434 (GRCm39) C430Y probably damaging Het
Sec23ip T C 7: 128,364,257 (GRCm39) probably null Het
Slc24a3 A G 2: 145,086,911 (GRCm39) D57G probably benign Het
Sprtn T G 8: 125,625,044 (GRCm39) F50V probably damaging Het
Srr A G 11: 74,803,828 (GRCm39) F43S probably damaging Het
Szt2 A G 4: 118,262,727 (GRCm39) F17L possibly damaging Het
Taar1 G T 10: 23,796,918 (GRCm39) M205I probably benign Het
Tas2r143 A G 6: 42,377,202 (GRCm39) I11V probably benign Het
Tlx1 T C 19: 45,139,655 (GRCm39) S101P probably damaging Het
Tmeff2 T C 1: 50,977,503 (GRCm39) probably null Het
Vhl A G 6: 113,606,451 (GRCm39) D156G possibly damaging Het
Washc4 T A 10: 83,426,897 (GRCm39) D1068E probably damaging Het
Zfp513 A G 5: 31,358,076 (GRCm39) V101A probably benign Het
Zfp82 T C 7: 29,761,669 (GRCm39) R71G probably benign 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
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
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'- TGGAGCTATAATTCCCAACCTTCTG -3'
(R):5'- TGGCCTAACCCTCAGGAATC -3'

Sequencing Primer
(F):5'- ACCTGTCACCATGTCACGG -3'
(R):5'- AGGAATCCCCCAGTTGTCC -3'
Posted On 2019-06-26