Incidental Mutation 'R1479:Megf6'
ID 164190
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 039532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1479 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 154261578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 68 (V68L)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030897
AA Change: V68L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: V68L

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
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik T A 9: 50,652,601 (GRCm39) T58S possibly damaging Het
Alox12e A G 11: 70,211,608 (GRCm39) V252A probably benign Het
Anks6 T C 4: 47,044,874 (GRCm39) D344G probably damaging Het
Atg14 A T 14: 47,784,696 (GRCm39) probably null Het
Bcr G T 10: 74,896,957 (GRCm39) E34* probably null Het
Birc6 C T 17: 74,941,848 (GRCm39) T2728M probably damaging Het
Bmp2k T A 5: 97,201,059 (GRCm39) N326K probably benign Het
Brme1 C A 8: 84,889,026 (GRCm39) T123K possibly damaging Het
Ccdc188 A C 16: 18,037,154 (GRCm39) T242P possibly damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdin1 T A 2: 115,469,494 (GRCm39) N74K probably benign Het
Chsy3 A T 18: 59,541,985 (GRCm39) E374D probably benign Het
Clca4b A T 3: 144,621,229 (GRCm39) V615E probably damaging Het
Clcnka C A 4: 141,116,758 (GRCm39) A498S possibly damaging Het
Csmd3 A G 15: 47,721,282 (GRCm39) C1450R probably damaging Het
Cul7 C A 17: 46,962,673 (GRCm39) D101E probably damaging Het
Cyp27b1 G A 10: 126,887,580 (GRCm39) probably null Het
Cyp2d22 A G 15: 82,256,137 (GRCm39) S404P probably damaging Het
Dclk3 G A 9: 111,297,614 (GRCm39) S386N probably benign Het
Dnah10 G A 5: 124,854,953 (GRCm39) D1953N possibly damaging Het
Dst T A 1: 34,303,596 (GRCm39) probably null Het
Egfem1 A G 3: 29,711,314 (GRCm39) N241D probably damaging Het
Entpd7 T C 19: 43,710,279 (GRCm39) F312S probably damaging Het
Esp34 T A 17: 38,865,219 (GRCm39) probably benign Het
Foxd2 T A 4: 114,765,115 (GRCm39) T302S unknown Het
Fzd6 A T 15: 38,894,394 (GRCm39) N187Y probably damaging Het
Gbp9 C T 5: 105,241,930 (GRCm39) probably benign Het
Gna14 T C 19: 16,511,133 (GRCm39) S61P possibly damaging Het
Grap A T 11: 61,551,124 (GRCm39) Y52F probably benign Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Hax1 C A 3: 89,903,164 (GRCm39) E212D probably damaging Het
Hecw1 A C 13: 14,491,077 (GRCm39) S638R probably benign Het
Hira A T 16: 18,715,219 (GRCm39) K39M probably damaging Het
Hoxa2 T A 6: 52,140,320 (GRCm39) D222V probably damaging Het
Hycc2 T A 1: 58,591,427 (GRCm39) R91* probably null Het
Jph2 C T 2: 163,181,191 (GRCm39) V658M possibly damaging Het
Kansl1 A T 11: 104,233,242 (GRCm39) S762T probably damaging Het
Kat6b T A 14: 21,669,024 (GRCm39) C267S probably benign Het
Klk6 A G 7: 43,481,058 (GRCm39) N250S probably benign Het
Lbp T C 2: 158,161,634 (GRCm39) L232S probably damaging Het
Lcn9 A T 2: 25,713,715 (GRCm39) probably benign Het
Lcp2 A G 11: 34,025,068 (GRCm39) H213R probably benign Het
Lrrc9 A T 12: 72,507,599 (GRCm39) K367* probably null Het
Lyst A G 13: 13,809,067 (GRCm39) I246V probably benign Het
Mst1r T C 9: 107,790,544 (GRCm39) probably benign Het
Myo18a A G 11: 77,733,020 (GRCm39) E909G probably benign Het
Nipbl A T 15: 8,379,773 (GRCm39) D1006E probably benign Het
Or4k5 C A 14: 50,386,245 (GRCm39) V29F probably benign Het
Or5d37 A G 2: 87,923,630 (GRCm39) F217L probably benign Het
Or8d1b A T 9: 38,887,058 (GRCm39) I29F probably benign Het
Otog A G 7: 45,945,402 (GRCm39) I2220V possibly damaging Het
Pcx T A 19: 4,652,052 (GRCm39) I99N probably damaging Het
Pi4ka C T 16: 17,191,264 (GRCm39) G211D probably benign Het
Pp2d1 T C 17: 53,814,883 (GRCm39) S614G probably benign Het
Prdx6 G A 1: 161,071,833 (GRCm39) A111V probably damaging Het
Prorp T A 12: 55,426,172 (GRCm39) D138E probably damaging Het
Prss51 G A 14: 64,333,619 (GRCm39) probably null Het
Psmd6 C T 14: 14,116,819 (GRCm38) probably benign Het
Pten T A 19: 32,797,250 (GRCm39) L345Q probably damaging Het
Qrich2 T G 11: 116,332,311 (GRCm39) H2295P probably benign Het
Rgs11 T C 17: 26,427,257 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,018 (GRCm39) E408G probably damaging Het
Septin4 G T 11: 87,458,244 (GRCm39) R206L probably damaging Het
Slc38a7 T C 8: 96,575,122 (GRCm39) T53A probably benign Het
Spata31g1 A C 4: 42,972,543 (GRCm39) K625N possibly damaging Het
Sptbn1 A G 11: 30,063,909 (GRCm39) C1957R probably damaging Het
Sumf1 T C 6: 108,153,019 (GRCm39) Y123C probably damaging Het
Tnrc6b T A 15: 80,771,233 (GRCm39) probably null Het
Ttc21a C A 9: 119,786,013 (GRCm39) D670E probably benign Het
Ttn A G 2: 76,574,855 (GRCm39) V25346A probably damaging Het
Ubr4 A G 4: 139,153,151 (GRCm39) T2070A possibly damaging Het
Vmn2r57 C A 7: 41,077,254 (GRCm39) W304L possibly damaging Het
Vps13a T C 19: 16,727,478 (GRCm39) probably benign Het
Zfp647 A G 15: 76,795,403 (GRCm39) V419A possibly 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
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'- TTATTAGGGACAGCCCCATGCAGC -3'
(R):5'- TGAAAGGCCATGCCCTCAGTAAAG -3'

Sequencing Primer
(F):5'- CTTGTCCTGGAGTCCCAAGTG -3'
(R):5'- CATGCCCTCAGTAAAGGGAATG -3'
Posted On 2014-03-28