Incidental Mutation 'R9161:Megf6'
ID 695685
Institutional Source Beutler Lab
Gene Symbol Megf6
Ensembl Gene ENSMUSG00000057751
Gene Name multiple EGF-like-domains 6
Synonyms 2600001P17Rik, Egfl3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9161 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154255187-154360170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154352172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1226 (T1226A)
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: T1226A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: T1226A

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 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 probably benign
Transcript: ENSMUST00000152159
SMART Domains Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,272,270 (GRCm39) N1496I probably damaging Het
Arglu1 T C 8: 8,733,941 (GRCm39) E125G possibly damaging Het
Atad2 A T 15: 57,989,185 (GRCm39) I225N possibly damaging Het
Atrn T C 2: 130,777,470 (GRCm39) F173S probably damaging Het
BC024063 T A 10: 81,945,044 (GRCm39) H221Q probably benign Het
Bnip5 T A 17: 29,128,387 (GRCm39) K175N probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh24 A T 14: 54,876,097 (GRCm39) Y182N probably damaging Het
Cdkl4 A G 17: 80,851,120 (GRCm39) L194P probably damaging Het
Cep152 T A 2: 125,408,574 (GRCm39) R1327* probably null Het
Ckap5 A T 2: 91,445,653 (GRCm39) M1797L probably benign Het
Clasp1 A T 1: 118,474,651 (GRCm39) N895I probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cotl1 G T 8: 120,549,456 (GRCm39) D85E probably benign Het
Cryba4 A C 5: 112,396,039 (GRCm39) probably null Het
Dync1h1 A G 12: 110,625,023 (GRCm39) K3817E probably benign Het
Ehd3 A T 17: 74,134,480 (GRCm39) R280* probably null Het
Erp29 T C 5: 121,583,146 (GRCm39) E260G possibly damaging Het
Fam135b T A 15: 71,334,417 (GRCm39) R926W possibly damaging Het
Fbn1 T C 2: 125,192,270 (GRCm39) N1413S probably damaging Het
Fbxw8 A G 5: 118,251,727 (GRCm39) V262A probably damaging Het
Gabrb1 A G 5: 72,187,199 (GRCm39) D164G probably damaging Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Get1 A T 16: 95,953,139 (GRCm39) R77W probably damaging Het
Gon4l A G 3: 88,808,955 (GRCm39) N1733S probably damaging Het
Hmcn2 A G 2: 31,242,758 (GRCm39) T562A probably benign Het
Inha A G 1: 75,484,144 (GRCm39) I85V probably damaging Het
Kif28 A C 1: 179,526,244 (GRCm39) V897G probably benign Het
Map1s G A 8: 71,366,250 (GRCm39) R385H probably damaging Het
Map2 T C 1: 66,477,503 (GRCm39) V1750A possibly damaging Het
Mbd1 C T 18: 74,407,792 (GRCm39) P273L probably benign Het
Muc5ac T A 7: 141,353,026 (GRCm39) C791S possibly damaging Het
Nlrc5 A C 8: 95,213,274 (GRCm39) H883P probably damaging Het
Nrip3 C T 7: 109,365,777 (GRCm39) R91H probably damaging Het
Or10w1 G A 19: 13,632,038 (GRCm39) V82M probably damaging Het
Or12j3 C T 7: 139,952,989 (GRCm39) C178Y probably damaging Het
Or51a10 C A 7: 103,699,725 (GRCm39) probably benign Het
Or8g21 A T 9: 38,905,816 (GRCm39) I305K possibly damaging Het
Or8k16 A G 2: 85,520,231 (GRCm39) T153A probably benign Het
Pdgfrb T G 18: 61,197,053 (GRCm39) L163R probably damaging Het
Pik3ip1 G T 11: 3,281,945 (GRCm39) R34L possibly damaging Het
Pip4k2b A G 11: 97,615,245 (GRCm39) F205S possibly damaging Het
Pttg1ip A C 10: 77,425,487 (GRCm39) N60T probably benign Het
Rab3ip C T 10: 116,750,066 (GRCm39) E356K probably damaging Het
Rai1 A G 11: 60,076,682 (GRCm39) N249D probably benign Het
Rd3l T C 12: 111,946,753 (GRCm39) K8E probably damaging Het
Rnf32 A G 5: 29,408,058 (GRCm39) K96E probably damaging Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Slc4a1ap A G 5: 31,685,474 (GRCm39) K251E Het
Spink5 T A 18: 44,147,986 (GRCm39) N875K probably damaging Het
Taf6 G T 5: 138,178,160 (GRCm39) A447D probably benign Het
Tbxas1 A T 6: 38,999,989 (GRCm39) I259F probably damaging Het
Tcap G T 11: 98,275,256 (GRCm39) R130L probably damaging Het
Tyms T C 5: 30,266,040 (GRCm39) E293G Het
Vmn1r20 C A 6: 57,408,759 (GRCm39) F28L probably benign Het
Vmn2r120 A T 17: 57,831,864 (GRCm39) D308E Het
Vmn2r69 T A 7: 85,056,177 (GRCm39) I654F possibly damaging Het
Zfp990 G T 4: 145,261,509 (GRCm39) V52L 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
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
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'- CACCATGTCTCTGGAGAGTG -3'
(R):5'- TACACAAGCTGGAGGTGAAC -3'

Sequencing Primer
(F):5'- CATGTCTCTGGAGAGTGCCACTG -3'
(R):5'- GGTGAACTCAAACATGCAGC -3'
Posted On 2022-01-20