Incidental Mutation 'R9098:Megf6'
ID 691467
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 068913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9098 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 154354160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 1355 (G1355R)
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: G1355R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: G1355R

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: G222R

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
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: G1074R

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,633,211 (GRCm39) D168V probably damaging Het
Abcb4 A T 5: 9,008,441 (GRCm39) D1203V probably damaging Het
Acat2 G A 17: 13,178,979 (GRCm39) probably benign Het
Adam3 C T 8: 25,179,484 (GRCm39) C611Y probably damaging Het
Adgrb1 A G 15: 74,415,189 (GRCm39) D638G probably damaging Het
Adra1b T C 11: 43,667,218 (GRCm39) N340D probably damaging Het
Ankrd31 A G 13: 96,916,879 (GRCm39) H131R probably damaging Het
Aoc2 T C 11: 101,217,164 (GRCm39) S416P possibly damaging Het
Armc8 G A 9: 99,387,362 (GRCm39) R419* probably null Het
Atp6v1h T G 1: 5,163,638 (GRCm39) V90G probably damaging Het
Avl9 T C 6: 56,707,628 (GRCm39) V191A probably benign Het
Bsn G A 9: 107,990,173 (GRCm39) P1860S possibly damaging Het
Btd A G 14: 31,384,233 (GRCm39) K73R probably benign Het
Cd22 T C 7: 30,567,391 (GRCm39) K731R probably benign Het
Chmp7 C A 14: 69,956,911 (GRCm39) L332F probably damaging Het
Cirop T G 14: 54,932,686 (GRCm39) S393R probably damaging Het
Cldn11 A G 3: 31,217,276 (GRCm39) E148G probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnbd1 A T 4: 18,886,061 (GRCm39) Y319* probably null Het
Cnnm4 A G 1: 36,511,170 (GRCm39) T133A probably benign Het
Cpeb4 A T 11: 31,822,679 (GRCm39) E131V probably benign Het
Ctns A G 11: 73,078,561 (GRCm39) probably null Het
Dhx36 C A 3: 62,414,142 (GRCm39) Q73H probably benign Het
Dhx36 C A 3: 62,414,141 (GRCm39) E74* probably null Het
Dnah5 A G 15: 28,420,107 (GRCm39) T3802A Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Flnc C T 6: 29,455,518 (GRCm39) Q2056* probably null Het
Fmo9 T C 1: 166,492,199 (GRCm39) D408G possibly damaging Het
Gipr C T 7: 18,897,495 (GRCm39) S117N unknown Het
Gm14412 T A 2: 177,006,356 (GRCm39) H513L probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gucy1a2 A T 9: 3,634,489 (GRCm39) I178L probably benign Het
Htr1b A T 9: 81,514,481 (GRCm39) L42Q Het
Htr2b T C 1: 86,027,481 (GRCm39) T342A probably damaging Het
Jkampl T C 6: 73,446,517 (GRCm39) T11A probably benign Het
Jph2 C T 2: 163,181,473 (GRCm39) V564M probably damaging Het
Kcnmb1 A G 11: 33,914,806 (GRCm39) T36A probably damaging Het
Krit1 A C 5: 3,863,135 (GRCm39) K310N probably benign Het
Lama1 C T 17: 68,111,508 (GRCm39) T2253M Het
Lpar6 C T 14: 73,476,233 (GRCm39) L65F probably damaging Het
Mmp3 T A 9: 7,446,936 (GRCm39) Y39N probably damaging Het
Mrtfb A G 16: 13,221,053 (GRCm39) H743R probably benign Het
Ms4a18 C A 19: 10,990,741 (GRCm39) V118F Het
Mthfr G A 4: 148,126,082 (GRCm39) S51N probably benign Het
Muc16 T A 9: 18,554,975 (GRCm39) T3773S unknown Het
Mus81 T A 19: 5,534,032 (GRCm39) K400* probably null Het
Naaladl2 A T 3: 24,487,344 (GRCm39) D192E probably benign Het
Naip5 T C 13: 100,366,127 (GRCm39) D329G possibly damaging Het
Nek11 T A 9: 105,170,856 (GRCm39) H393L probably benign Het
Nmt2 T A 2: 3,306,315 (GRCm39) probably benign Het
Nmur2 T C 11: 55,920,408 (GRCm39) D279G possibly damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,379 (GRCm39) D119G probably damaging Het
Or1o2 T C 17: 37,542,961 (GRCm39) Y100C probably benign Het
Or5ak22 T C 2: 85,229,995 (GRCm39) N294S probably damaging Het
Palm A G 10: 79,654,988 (GRCm39) T249A probably benign Het
Pramel22 A T 4: 143,381,097 (GRCm39) Y309N probably benign Het
Rhobtb3 A G 13: 76,087,702 (GRCm39) I95T probably damaging Het
Rnpep A T 1: 135,206,559 (GRCm39) F178L possibly damaging Het
Rsl1d1 A G 16: 11,019,227 (GRCm39) S105P probably damaging Het
Rxra C T 2: 27,638,756 (GRCm39) T253I possibly damaging Het
Schip1 A G 3: 67,972,318 (GRCm39) D15G Het
Sis T A 3: 72,844,578 (GRCm39) I719F possibly damaging Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Srcap T C 7: 127,151,816 (GRCm39) V2125A probably damaging Het
Stx7 C T 10: 24,058,724 (GRCm39) Q199* probably null Het
Syt6 T C 3: 103,492,895 (GRCm39) I134T probably damaging Het
Tlr12 A G 4: 128,510,870 (GRCm39) M460T probably benign Het
Tnni3k T C 3: 154,647,314 (GRCm39) T398A possibly damaging Het
Tspan4 T C 7: 141,071,816 (GRCm39) S188P probably benign Het
Ubap2l A G 3: 89,909,756 (GRCm39) S1025P unknown Het
Ubl7 A G 9: 57,829,035 (GRCm39) D219G probably benign Het
Vmn2r115 C A 17: 23,564,803 (GRCm39) T230K probably benign Het
Vmn2r95 T A 17: 18,660,167 (GRCm39) M193K possibly damaging Het
Zfp639 A G 3: 32,573,885 (GRCm39) E170G probably damaging Het
Zfy1 A G Y: 725,987 (GRCm39) S593P possibly damaging Het
Zscan4-ps1 T A 7: 10,799,495 (GRCm39) T465S 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
R8896:Megf6 UTSW 4 154,326,860 (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'- GTGGTCCCTGTTATCAGACCTG -3'
(R):5'- GGATTCTTAGTTGCTCCCTGAC -3'

Sequencing Primer
(F):5'- CTGCCCAGAATTCTGAGGGATTC -3'
(R):5'- AGTTGCTCCCTGACTCACCAC -3'
Posted On 2021-12-30