Incidental Mutation 'R0383:Megf6'
ID 31070
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 038589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0383 (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 154349783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 961 (A961V)
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: A961V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: A961V

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
AA Change: A853V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: A853V

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: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G T 11: 80,254,767 (GRCm39) Y351* probably null Het
Aadac G T 3: 59,943,368 (GRCm39) R91L possibly damaging Het
Adgrg1 T A 8: 95,738,370 (GRCm39) F621Y probably damaging Het
Ankmy1 G T 1: 92,812,775 (GRCm39) D511E probably benign Het
Anks4b A T 7: 119,782,097 (GRCm39) D376V probably damaging Het
Aox1 G T 1: 58,100,400 (GRCm39) C399F probably benign Het
Arfgef1 C T 1: 10,269,067 (GRCm39) probably null Het
Arhgef4 G A 1: 34,849,614 (GRCm39) V546M probably damaging Het
Cab39 T A 1: 85,765,020 (GRCm39) V98E probably damaging Het
Cacna1b T C 2: 24,651,856 (GRCm39) N108D probably damaging Het
Car15 C A 16: 17,654,617 (GRCm39) E134* probably null Het
Ccdc80 T G 16: 44,915,732 (GRCm39) Y163D probably damaging Het
Cdcp3 A G 7: 130,841,268 (GRCm39) M537V probably benign Het
Col22a1 C T 15: 71,740,853 (GRCm39) G513D unknown Het
Col8a1 T C 16: 57,452,805 (GRCm39) D66G probably damaging Het
Crot C A 5: 9,018,734 (GRCm39) S544I probably damaging Het
Cubn G T 2: 13,435,770 (GRCm39) P1062Q probably damaging Het
Dcc A T 18: 71,553,334 (GRCm39) V774E probably damaging Het
Dlgap5 T A 14: 47,647,818 (GRCm39) M240L probably benign Het
Dlx4 A G 11: 95,036,261 (GRCm39) V16A probably benign Het
Dnah17 G T 11: 117,958,373 (GRCm39) H2703Q probably benign Het
Duox2 A G 2: 122,122,291 (GRCm39) probably null Het
Fn1 C T 1: 71,636,844 (GRCm39) V168I probably damaging Het
Fpr-rs4 A T 17: 18,242,359 (GRCm39) D122V probably damaging Het
Gas2l2 A T 11: 83,313,923 (GRCm39) I463N probably benign Het
Ggta1 G T 2: 35,292,416 (GRCm39) P297Q probably damaging Het
Gpatch3 C A 4: 133,305,457 (GRCm39) R231S probably damaging Het
Gpc1 T C 1: 92,782,705 (GRCm39) Y151H probably damaging Het
Gpr141b A G 13: 19,913,317 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,245,973 (GRCm39) W119R probably damaging Het
H2-M10.2 T C 17: 36,595,253 (GRCm39) I304V probably benign Het
Helq T C 5: 100,927,031 (GRCm39) K685R probably benign Het
Hps5 C T 7: 46,418,712 (GRCm39) probably null Het
Iars1 T C 13: 49,885,818 (GRCm39) C1186R probably damaging Het
Ift43 T C 12: 86,208,795 (GRCm39) V158A possibly damaging Het
Ift70b A G 2: 75,768,586 (GRCm39) Y56H probably damaging Het
Iqca1 A T 1: 90,070,429 (GRCm39) I141N probably damaging Het
Kat6b A G 14: 21,719,149 (GRCm39) N1276S probably benign Het
Kif19a A T 11: 114,656,340 (GRCm39) M1L possibly damaging Het
Kif1b T G 4: 149,286,969 (GRCm39) H1241P probably damaging Het
Kif26a T C 12: 112,144,510 (GRCm39) V1588A possibly damaging Het
Klb T A 5: 65,529,842 (GRCm39) probably null Het
Krtap26-1 A T 16: 88,444,131 (GRCm39) Y163* probably null Het
Lefty1 G T 1: 180,765,199 (GRCm39) E256* probably null Het
Lox T C 18: 52,662,271 (GRCm39) N44S possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mctp1 A G 13: 76,949,663 (GRCm39) Y565C probably damaging Het
Mindy4 A G 6: 55,253,619 (GRCm39) K496R probably benign Het
Nalcn A T 14: 123,744,971 (GRCm39) H352Q probably benign Het
Ncoa5 T C 2: 164,851,310 (GRCm39) I188V possibly damaging Het
Notum G T 11: 120,545,282 (GRCm39) H426N probably benign Het
Or52r1 T A 7: 102,536,458 (GRCm39) I301F possibly damaging Het
Orm2 A T 4: 63,282,233 (GRCm39) D137V probably damaging Het
Pabpc2 G A 18: 39,908,448 (GRCm39) G571D probably damaging Het
Pabpc4 A G 4: 123,191,735 (GRCm39) N599S probably damaging Het
Pak1ip1 T C 13: 41,166,080 (GRCm39) V335A probably benign Het
Pcdhb11 A C 18: 37,556,446 (GRCm39) D592A probably damaging Het
Pmch C A 10: 87,927,120 (GRCm39) T41K possibly damaging Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Pter G T 2: 13,005,753 (GRCm39) G309* probably null Het
Ptprg T C 14: 12,219,024 (GRCm38) V406A possibly damaging Het
Ranbp3l A T 15: 9,063,184 (GRCm39) E467V possibly damaging Het
Rif1 T A 2: 51,975,153 (GRCm39) M354K probably damaging Het
Ripk4 C T 16: 97,549,312 (GRCm39) C248Y probably damaging Het
Slc6a15 T C 10: 103,253,914 (GRCm39) W617R probably damaging Het
Smyd5 C T 6: 85,417,155 (GRCm39) Q178* probably null Het
St18 T A 1: 6,873,248 (GRCm39) F328I probably damaging Het
Supt20 T A 3: 54,610,570 (GRCm39) L124* probably null Het
Tarbp1 T A 8: 127,174,223 (GRCm39) H861L probably benign Het
Tars1 A G 15: 11,390,411 (GRCm39) M356T probably benign Het
Tbc1d10a A G 11: 4,162,819 (GRCm39) T221A probably damaging Het
Tead3 A G 17: 28,553,672 (GRCm39) probably null Het
Tprg1 A G 16: 25,240,985 (GRCm39) T254A probably damaging Het
Trank1 C A 9: 111,220,545 (GRCm39) N2427K probably benign Het
Tufm T C 7: 126,089,036 (GRCm39) S380P probably damaging Het
Tyrobp C T 7: 30,114,042 (GRCm39) R68C probably damaging Het
Ubl4b T C 3: 107,462,143 (GRCm39) E39G possibly damaging Het
Uggt2 A T 14: 119,286,863 (GRCm39) F661I probably damaging Het
Upf3b A G X: 36,368,120 (GRCm39) I144T probably benign Het
Usp54 A T 14: 20,611,320 (GRCm39) D1165E probably benign Het
Vmn2r81 C T 10: 79,129,281 (GRCm39) T724I possibly damaging Het
Vsig1 A G X: 139,837,062 (GRCm39) I247M possibly damaging Het
Zfp110 C A 7: 12,583,187 (GRCm39) L612I probably benign Het
Zfp318 C A 17: 46,724,222 (GRCm39) T2075K probably damaging Het
Zfp37 A G 4: 62,110,122 (GRCm39) M1T probably null Het
Zfp605 T A 5: 110,276,720 (GRCm39) C613S probably damaging Het
Zfp729a G A 13: 67,769,792 (GRCm39) P146S possibly damaging Het
Zfp85 T C 13: 67,896,791 (GRCm39) N427S 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
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'- TGCAAGACTGGCCTTTGTGTCTC -3'
(R):5'- ACCTCATGAACAAAGCTGTGTCCTC -3'

Sequencing Primer
(F):5'- ACCTGTGACCATGTCAGTG -3'
(R):5'- ACAAAGCTGTGTCCTCAGTCG -3'
Posted On 2013-04-24