Incidental Mutation 'R8175:Megf6'
ID 634278
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission 067600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 154353076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1307 (C1307*)
Ref Sequence ENSEMBL: ENSMUSP00000030897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030897] [ENSMUST00000152159]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030897
AA Change: C1307*
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: C1307*

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 null
Transcript: ENSMUST00000128700
AA Change: C174*
SMART Domains Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: C174*

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 probably null
Transcript: ENSMUST00000152159
AA Change: C1026*
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: C1026*

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
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,815,952 (GRCm39) V635M probably damaging Het
Aim2 A T 1: 173,282,920 (GRCm39) M1L possibly damaging Het
Ank3 T C 10: 69,729,339 (GRCm39) V700A unknown Het
Arhgap10 T C 8: 78,037,471 (GRCm39) T586A probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 G A 1: 34,849,455 (GRCm39) V349I probably benign Het
Atp1a1 A G 3: 101,492,170 (GRCm39) F569L possibly damaging Het
Btbd10 T A 7: 112,921,999 (GRCm39) probably null Het
Capza2 G A 6: 17,665,381 (GRCm39) D270N probably benign Het
Cobll1 T C 2: 64,929,575 (GRCm39) N584D probably benign Het
Coro1c T A 5: 113,988,876 (GRCm39) I156F probably benign Het
Cpsf3 T C 12: 21,350,178 (GRCm39) I299T probably benign Het
Cse1l T A 2: 166,785,128 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,772,814 (GRCm39) E527G probably damaging Het
Dcbld2 T C 16: 58,253,710 (GRCm39) L149S possibly damaging Het
Ecpas C T 4: 58,872,756 (GRCm39) V182M probably damaging Het
Egflam C A 15: 7,241,633 (GRCm39) W925L probably damaging Het
Ehmt2 A G 17: 35,130,396 (GRCm39) N1071D probably damaging Het
Eif3g A T 9: 20,809,026 (GRCm39) S93T probably damaging Het
Eipr1 A G 12: 28,913,106 (GRCm39) E269G Het
Eng C A 2: 32,568,934 (GRCm39) T487K possibly damaging Het
Epb41l3 T C 17: 69,517,361 (GRCm39) Y130H probably damaging Het
F5 A T 1: 164,019,834 (GRCm39) R770* probably null Het
Fam227a A G 15: 79,524,861 (GRCm39) F201S probably damaging Het
Fam50b G A 13: 34,930,847 (GRCm39) E108K probably benign Het
Fcgbpl1 T A 7: 27,863,873 (GRCm39) C2548* probably null Het
Fn1 A G 1: 71,638,824 (GRCm39) I1971T probably damaging Het
Fsip2 T A 2: 82,815,088 (GRCm39) F3607Y probably benign Het
Fsip2 A T 2: 82,818,021 (GRCm39) I4585L probably benign Het
Gas1 T C 13: 60,323,932 (GRCm39) N275S Het
Hus1b A G 13: 31,131,215 (GRCm39) V148A probably benign Het
Ighmbp2 A G 19: 3,316,365 (GRCm39) L575P possibly damaging Het
Igsf21 A T 4: 139,755,542 (GRCm39) F371Y probably damaging Het
Itprid2 A G 2: 79,488,496 (GRCm39) R860G probably damaging Het
Jade1 G T 3: 41,567,723 (GRCm39) R597L probably benign Het
Krt4 A G 15: 101,828,984 (GRCm39) probably null Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lifr A G 15: 7,216,496 (GRCm39) T824A probably damaging Het
Ndufb10 A T 17: 24,943,166 (GRCm39) V48E possibly damaging Het
Nelfa T C 5: 34,079,357 (GRCm39) K72R possibly damaging Het
Obscn C T 11: 58,886,786 (GRCm39) V7767I unknown Het
Pptc7 T A 5: 122,457,882 (GRCm39) C284S probably benign Het
Pxdc1 A G 13: 34,812,798 (GRCm39) S218P probably damaging Het
Rabep1 T A 11: 70,775,755 (GRCm39) W110R probably damaging Het
Ren1 T C 1: 133,282,007 (GRCm39) Y79H possibly damaging Het
Ripor3 T C 2: 167,825,679 (GRCm39) S760G probably benign Het
Setd1a A G 7: 127,395,415 (GRCm39) E1327G unknown Het
Setd5 T C 6: 113,091,874 (GRCm39) W232R probably damaging Het
Slf1 A T 13: 77,260,790 (GRCm39) H171Q probably damaging Het
Smoc1 A G 12: 81,214,440 (GRCm39) D285G probably damaging Het
Taf10 T C 7: 105,393,134 (GRCm39) Y97C probably damaging Het
Tgfbr2 G A 9: 115,939,023 (GRCm39) S293L possibly damaging Het
Tmem181a A G 17: 6,346,075 (GRCm39) I190V probably benign Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Ube4b T C 4: 149,435,973 (GRCm39) N716D probably benign Het
Unc5d T A 8: 29,334,855 (GRCm39) K157N probably damaging Het
Usp19 G A 9: 108,377,377 (GRCm39) R1255H probably damaging Het
Vmn2r12 T A 5: 109,238,349 (GRCm39) I464F probably damaging Het
Zbtb20 A T 16: 43,397,443 (GRCm39) probably benign Het
Zfp790 T G 7: 29,529,205 (GRCm39) L630R 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
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
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'- TGTGTCCCTGTAGAGATGGC -3'
(R):5'- CCCTCCCAAGATGAGTTCAC -3'

Sequencing Primer
(F):5'- CCAGCAGAGCCTATTCATGAGG -3'
(R):5'- CTCCCAAGATGAGTTCACTTTAGCAG -3'
Posted On 2020-07-13