Incidental Mutation 'R8896:Megf6'
ID 678016
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 068698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8896 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154326860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 163 (D163E)
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: D163E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: D163E

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 probably damaging
Transcript: ENSMUST00000152159
AA Change: D55E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: D55E

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T G 1: 58,291,233 (GRCm39) S784A probably benign Het
Ap3d1 T A 10: 80,552,425 (GRCm39) H581L probably benign Het
Atp11a T C 8: 12,899,781 (GRCm39) Y915H probably damaging Het
Atp4b T C 8: 13,437,514 (GRCm39) D213G probably benign Het
Bcl11a A G 11: 24,113,640 (GRCm39) S328G probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cadps2 T A 6: 23,410,876 (GRCm39) Y685F probably damaging Het
Ccdc88b C T 19: 6,831,203 (GRCm39) A580T probably benign Het
Cdc42bpa GACAACA GACA 1: 179,958,373 (GRCm39) probably benign Het
Cep152 A T 2: 125,408,155 (GRCm39) V1396D possibly damaging Het
Ces1c T C 8: 93,833,254 (GRCm39) I404V probably benign Het
Cr2 A T 1: 194,851,581 (GRCm39) M137K possibly damaging Het
Cyp2d40 T C 15: 82,644,454 (GRCm39) Y257C unknown Het
Dennd1c T A 17: 57,381,512 (GRCm39) D116V probably damaging Het
Dph2 G A 4: 117,747,575 (GRCm39) R270* probably null Het
Dpp8 A C 9: 64,985,318 (GRCm39) H792P possibly damaging Het
Dusp29 T C 14: 21,736,763 (GRCm39) D113G probably benign Het
Efs T C 14: 55,157,756 (GRCm39) E185G possibly damaging Het
Eml3 A G 19: 8,914,056 (GRCm39) E480G probably damaging Het
Fam193a A G 5: 34,583,828 (GRCm39) T336A probably benign Het
Fermt1 C T 2: 132,783,852 (GRCm39) probably benign Het
Galnt4 T A 10: 98,945,955 (GRCm39) V560D probably damaging Het
Gbp2b C A 3: 142,309,327 (GRCm39) T146K probably damaging Het
Gbp5 C T 3: 142,211,308 (GRCm39) T346I probably damaging Het
Glrx G T 13: 75,995,317 (GRCm39) C79F probably damaging Het
Glt8d2 T A 10: 82,490,616 (GRCm39) T225S probably damaging Het
Grm3 A G 5: 9,562,483 (GRCm39) F456L possibly damaging Het
Gse1 T G 8: 121,303,185 (GRCm39) S1109A unknown Het
Gstp3 A T 19: 4,108,573 (GRCm39) L63Q probably damaging Het
Hapln3 G A 7: 78,767,239 (GRCm39) R267W probably benign Het
Herc4 T A 10: 63,147,286 (GRCm39) I801N possibly damaging Het
Ido1 G T 8: 25,077,880 (GRCm39) D153E probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnj9 T A 1: 172,153,360 (GRCm39) S255C probably damaging Het
Kpna3 T C 14: 61,629,294 (GRCm39) N39D probably benign Het
Krt39 A T 11: 99,409,095 (GRCm39) S269T probably damaging Het
Lfng G A 5: 140,598,978 (GRCm39) V296I probably benign Het
Lrit3 T A 3: 129,585,132 (GRCm39) I209F probably damaging Het
Map4k5 T A 12: 69,870,275 (GRCm39) D523V possibly damaging Het
Mdn1 C T 4: 32,678,328 (GRCm39) P652L probably benign Het
Med30 G A 15: 52,584,516 (GRCm39) V145I possibly damaging Het
Meltf T A 16: 31,709,522 (GRCm39) probably benign Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mppe1 T C 18: 67,370,472 (GRCm39) D75G probably damaging Het
Muc4 C T 16: 32,754,673 (GRCm38) P1516S probably benign Het
Myo3b C A 2: 70,069,160 (GRCm39) F494L probably damaging Het
Nedd4l A G 18: 65,298,688 (GRCm39) T226A probably benign Het
Nod1 A G 6: 54,921,277 (GRCm39) V347A probably benign Het
Nup210 A T 6: 91,019,235 (GRCm39) probably null Het
Nup210l A G 3: 90,025,932 (GRCm39) R185G probably damaging Het
Oma1 T C 4: 103,210,829 (GRCm39) L445S probably damaging Het
Or13p10 A T 4: 118,523,502 (GRCm39) M263L probably benign Het
Or5ac20 A T 16: 59,104,452 (GRCm39) M136K probably damaging Het
Or8g36 A G 9: 39,422,770 (GRCm39) L82P probably damaging Het
Oxsm A T 14: 16,242,677 (GRCm38) F31I probably benign Het
Pdcd5 A T 7: 35,346,795 (GRCm39) M1K probably null Het
Pkd1l2 T C 8: 117,740,615 (GRCm39) T2161A possibly damaging Het
Pla2g3 A T 11: 3,442,151 (GRCm39) S404C probably null Het
Plec A G 15: 76,078,560 (GRCm39) V60A unknown Het
Prpsap2 A G 11: 61,643,736 (GRCm39) S66P possibly damaging Het
Rarb A G 14: 16,436,804 (GRCm38) L239P probably damaging Het
Ryr3 A T 2: 112,583,395 (GRCm39) Y2845* probably null Het
Spta1 T C 1: 174,045,548 (GRCm39) C1569R probably damaging Het
Stard13 G A 5: 150,986,115 (GRCm39) S465L probably damaging Het
Tmub1 A T 5: 24,651,680 (GRCm39) S80T probably benign Het
Trpv5 A G 6: 41,647,847 (GRCm39) F322S probably damaging Het
Vmn2r5 G A 3: 64,411,203 (GRCm39) A455V probably benign Het
Washc4 T A 10: 83,405,882 (GRCm39) N459K probably damaging Het
Wdr11 C T 7: 129,207,437 (GRCm39) R300* probably null Het
Zer1 A G 2: 29,993,430 (GRCm39) F559L probably damaging Het
Zfat A T 15: 68,052,519 (GRCm39) V425D probably damaging Het
Zfp738 G A 13: 67,817,910 (GRCm39) L694F Het
Zfp839 C T 12: 110,835,277 (GRCm39) A844V 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
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
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'- TGGCTCATGCTGAAATTTCCTC -3'
(R):5'- TGCAGACATGGGTACATTCTGG -3'

Sequencing Primer
(F):5'- ATGCTGAAATTTCCTCTGGTAGC -3'
(R):5'- ACATGGGTACATTCTGGAGAGTG -3'
Posted On 2021-08-02