Incidental Mutation 'R9378:Megf8'
ID 709778
Institutional Source Beutler Lab
Gene Symbol Megf8
Ensembl Gene ENSMUSG00000045039
Gene Name multiple EGF-like-domains 8
Synonyms m687Ddg, b2b1702Clo, Egfl4, b2b288Clo
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R9378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25016589-25065342 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 25039840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128119]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000128119
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CUB 33 140 1.24e-15 SMART
EGF 141 170 4.26e0 SMART
EGF 173 203 2.43e1 SMART
Pfam:Kelch_4 227 277 1.3e-11 PFAM
Pfam:Kelch_3 240 287 1.6e-7 PFAM
low complexity region 320 341 N/A INTRINSIC
low complexity region 517 531 N/A INTRINSIC
low complexity region 728 738 N/A INTRINSIC
PSI 847 899 1.37e0 SMART
low complexity region 932 938 N/A INTRINSIC
PSI 949 991 2.11e-2 SMART
PSI 1005 1073 7.82e-1 SMART
EGF_CA 1074 1115 2.62e-9 SMART
EGF 1117 1160 5.4e-2 SMART
EGF_like 1163 1208 4e-1 SMART
EGF_Lam 1211 1259 1.03e-7 SMART
Blast:CUB 1263 1401 1e-30 BLAST
EGF_like 1406 1445 3.29e1 SMART
Pfam:Kelch_4 1509 1564 6.5e-12 PFAM
Pfam:Kelch_3 1520 1574 1.2e-10 PFAM
PSI 1868 1923 2.75e-1 SMART
PSI 2004 2062 1.6e0 SMART
PSI 2064 2121 1.68e-5 SMART
EGF 2125 2164 1.08e-1 SMART
EGF 2166 2194 4.26e0 SMART
EGF 2204 2244 2.2e1 SMART
EGF_like 2248 2321 6.37e-1 SMART
low complexity region 2493 2504 N/A INTRINSIC
low complexity region 2530 2541 N/A INTRINSIC
transmembrane domain 2592 2614 N/A INTRINSIC
low complexity region 2649 2668 N/A INTRINSIC
low complexity region 2674 2702 N/A INTRINSIC
low complexity region 2759 2774 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,735 (GRCm39) K1047E possibly damaging Het
Aadacl2fm1 A G 3: 59,839,110 (GRCm39) T11A possibly damaging Het
Abca14 A T 7: 119,807,191 (GRCm39) Y79F possibly damaging Het
Abca2 T A 2: 25,329,094 (GRCm39) M978K probably benign Het
Adamts3 A T 5: 89,848,269 (GRCm39) C684* probably null Het
Adnp2 T C 18: 80,172,637 (GRCm39) T591A probably benign Het
Aff4 A T 11: 53,263,306 (GRCm39) T109S probably damaging Het
Agmo A G 12: 37,293,720 (GRCm39) I48V probably benign Het
Appl1 G A 14: 26,649,784 (GRCm39) R581* probably null Het
Armc9 A T 1: 86,189,766 (GRCm39) M714L probably benign Het
Atp6v0d2 T A 4: 19,922,377 (GRCm39) T41S probably benign Het
Bin1 A T 18: 32,552,921 (GRCm39) Q182L probably damaging Het
Bmp10 A G 6: 87,410,684 (GRCm39) D159G probably benign Het
Bsn G A 9: 107,984,854 (GRCm39) P295S possibly damaging Het
Cbx6 A G 15: 79,712,606 (GRCm39) S274P probably damaging Het
Cdc20b A G 13: 113,192,631 (GRCm39) K108R probably benign Het
Ces1d T A 8: 93,912,724 (GRCm39) N238I probably damaging Het
Col7a1 C T 9: 108,787,708 (GRCm39) Q663* probably null Het
Cpsf3 T C 12: 21,358,039 (GRCm39) I517T possibly damaging Het
Cyp2a5 C A 7: 26,539,879 (GRCm39) T309N probably damaging Het
Cyp2d40 A G 15: 82,645,802 (GRCm39) F68L possibly damaging Het
Cyp7b1 A T 3: 18,150,837 (GRCm39) W301R probably damaging Het
Dnah6 T A 6: 73,189,513 (GRCm39) N45I probably benign Het
Dnah7a A T 1: 53,621,776 (GRCm39) H1116Q probably benign Het
Dntt A G 19: 41,027,356 (GRCm39) N141S probably benign Het
Fbxl13 T C 5: 21,790,201 (GRCm39) N281D probably damaging Het
Frem2 A T 3: 53,559,410 (GRCm39) L1699H probably damaging Het
Gabrr3 T C 16: 59,282,037 (GRCm39) V464A possibly damaging Het
Gdap1 T A 1: 17,227,353 (GRCm39) I160N probably damaging Het
Hnrnpll C A 17: 80,369,291 (GRCm39) R44L unknown Het
Hsp90ab1 T C 17: 45,881,680 (GRCm39) E187G probably damaging Het
Ighm T A 12: 113,386,210 (GRCm39) T47S Het
Itgb7 A C 15: 102,135,831 (GRCm39) probably null Het
Kif16b A T 2: 142,461,738 (GRCm39) C1293* probably null Het
Klf11 C T 12: 24,705,043 (GRCm39) R166C probably benign Het
Lca5l T A 16: 95,977,212 (GRCm39) Q198L probably damaging Het
Lnx2 A T 5: 146,961,180 (GRCm39) M584K probably benign Het
Lpp A T 16: 24,540,737 (GRCm39) M1L probably benign Het
Lrig3 A G 10: 125,832,953 (GRCm39) T276A probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Myh1 A C 11: 67,093,259 (GRCm39) T117P probably damaging Het
Neb C A 2: 52,134,113 (GRCm39) R3290L possibly damaging Het
Neb A C 2: 52,137,304 (GRCm39) V220G Het
Nktr A T 9: 121,577,264 (GRCm39) K444I probably damaging Het
Nol11 A T 11: 107,064,505 (GRCm39) M483K probably benign Het
Npy1r C A 8: 67,156,861 (GRCm39) P94T probably damaging Het
Nsmaf T C 4: 6,440,940 (GRCm39) T37A probably benign Het
Or10ad1b A G 15: 98,124,920 (GRCm39) L204P possibly damaging Het
Or2y3 G A 17: 38,393,056 (GRCm39) A271V possibly damaging Het
Or4c119 T C 2: 88,987,399 (GRCm39) N40S probably damaging Het
Or51v8 A T 7: 103,319,389 (GRCm39) M283K probably damaging Het
Or5w14 C A 2: 87,541,423 (GRCm39) V276F possibly damaging Het
Or8a1b A G 9: 37,623,473 (GRCm39) I34T probably damaging Het
Or8b37 G A 9: 37,958,775 (GRCm39) V86M possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pcdha3 A G 18: 37,080,284 (GRCm39) D342G probably damaging Het
Pclo G A 5: 14,815,877 (GRCm39) V1266I Het
Pcnx4 T C 12: 72,602,664 (GRCm39) Y309H probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pdzrn3 T G 6: 101,127,772 (GRCm39) K965Q probably damaging Het
Phldb1 G A 9: 44,615,425 (GRCm39) A225V probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plat A G 8: 23,265,599 (GRCm39) Y214C probably damaging Het
Plppr1 T A 4: 49,325,627 (GRCm39) C274* probably null Het
Poglut1 A G 16: 38,347,133 (GRCm39) F345L possibly damaging Het
Ppara A T 15: 85,661,837 (GRCm39) E26V possibly damaging Het
Ppcdc A T 9: 57,327,571 (GRCm39) W79R probably damaging Het
Prdm1 C T 10: 44,316,150 (GRCm39) C662Y probably damaging Het
Sgms2 G A 3: 131,136,011 (GRCm39) probably benign Het
Slc31a1 T A 4: 62,306,843 (GRCm39) M133K probably damaging Het
Smg1 G A 7: 117,777,998 (GRCm39) Q1309* probably null Het
Sos1 T C 17: 80,761,239 (GRCm39) I152M probably damaging Het
Stk4 A T 2: 163,952,136 (GRCm39) probably benign Het
Syne1 T G 10: 5,200,954 (GRCm39) N3538T probably damaging Het
Tbc1d16 A G 11: 119,099,666 (GRCm39) F236S probably damaging Het
Tgs1 T A 4: 3,595,475 (GRCm39) M548K probably benign Het
Twf1 G A 15: 94,483,336 (GRCm39) T124I probably damaging Het
Tyro3 G A 2: 119,642,648 (GRCm39) G611R probably damaging Het
Unc13b T A 4: 43,173,282 (GRCm39) I1370K unknown Het
Usp40 A G 1: 87,885,032 (GRCm39) W939R probably damaging Het
Vamp8 A T 6: 72,362,554 (GRCm39) V82E probably damaging Het
Vmn2r17 A G 5: 109,575,732 (GRCm39) H201R possibly damaging Het
Whrn T C 4: 63,350,079 (GRCm39) H546R probably benign Het
Yeats2 T C 16: 20,033,228 (GRCm39) V1036A probably benign Het
Zfp352 T G 4: 90,112,575 (GRCm39) N238K probably benign Het
Zfp36l3 TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG TCCAGG X: 52,776,521 (GRCm39) probably benign Het
Zfp462 T A 4: 55,011,510 (GRCm39) S1159T probably benign Het
Zscan4-ps1 A T 7: 10,800,192 (GRCm39) H232Q probably benign Het
Other mutations in Megf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Megf8 APN 7 25,043,109 (GRCm39) missense possibly damaging 0.87
IGL00696:Megf8 APN 7 25,041,817 (GRCm39) missense probably benign
IGL01021:Megf8 APN 7 25,037,799 (GRCm39) missense probably benign 0.39
IGL01290:Megf8 APN 7 25,049,083 (GRCm39) nonsense probably null
IGL01392:Megf8 APN 7 25,063,174 (GRCm39) missense probably benign 0.03
IGL01410:Megf8 APN 7 25,059,296 (GRCm39) missense probably benign 0.01
IGL01634:Megf8 APN 7 25,058,206 (GRCm39) splice site probably benign
IGL01648:Megf8 APN 7 25,026,997 (GRCm39) missense probably damaging 1.00
IGL01930:Megf8 APN 7 25,034,286 (GRCm39) missense probably damaging 1.00
IGL01954:Megf8 APN 7 25,048,439 (GRCm39) missense possibly damaging 0.94
IGL02150:Megf8 APN 7 25,045,842 (GRCm39) splice site probably null
IGL02192:Megf8 APN 7 25,053,285 (GRCm39) missense probably damaging 1.00
IGL02250:Megf8 APN 7 25,042,000 (GRCm39) missense probably benign 0.02
IGL02301:Megf8 APN 7 25,037,325 (GRCm39) missense probably damaging 0.96
IGL02317:Megf8 APN 7 25,063,213 (GRCm39) missense probably damaging 1.00
IGL02324:Megf8 APN 7 25,039,873 (GRCm39) missense probably benign 0.10
IGL02503:Megf8 APN 7 25,062,988 (GRCm39) missense possibly damaging 0.70
IGL02583:Megf8 APN 7 25,055,218 (GRCm39) missense probably benign
IGL02636:Megf8 APN 7 25,057,857 (GRCm39) missense probably damaging 0.99
IGL02704:Megf8 APN 7 25,059,207 (GRCm39) missense probably damaging 0.97
IGL02898:Megf8 APN 7 25,045,933 (GRCm39) missense possibly damaging 0.79
IGL03082:Megf8 APN 7 25,029,661 (GRCm39) missense probably benign
IGL03182:Megf8 APN 7 25,046,773 (GRCm39) missense possibly damaging 0.92
megatherium UTSW 7 25,041,850 (GRCm39) critical splice donor site probably null
PIT4810001:Megf8 UTSW 7 25,041,710 (GRCm39) missense probably damaging 1.00
R0076:Megf8 UTSW 7 25,053,383 (GRCm39) critical splice donor site probably null
R0217:Megf8 UTSW 7 25,063,504 (GRCm39) missense probably damaging 0.99
R0514:Megf8 UTSW 7 25,063,728 (GRCm39) missense possibly damaging 0.86
R0561:Megf8 UTSW 7 25,028,257 (GRCm39) missense probably benign 0.21
R0563:Megf8 UTSW 7 25,041,820 (GRCm39) missense probably damaging 1.00
R0601:Megf8 UTSW 7 25,027,965 (GRCm39) missense probably benign 0.03
R0879:Megf8 UTSW 7 25,037,896 (GRCm39) missense possibly damaging 0.58
R1323:Megf8 UTSW 7 25,059,527 (GRCm39) splice site probably null
R1323:Megf8 UTSW 7 25,059,527 (GRCm39) splice site probably null
R1430:Megf8 UTSW 7 25,063,768 (GRCm39) missense possibly damaging 0.86
R1445:Megf8 UTSW 7 25,042,081 (GRCm39) missense probably damaging 0.97
R1533:Megf8 UTSW 7 25,034,280 (GRCm39) missense possibly damaging 0.70
R1606:Megf8 UTSW 7 25,058,120 (GRCm39) missense probably damaging 1.00
R1635:Megf8 UTSW 7 25,046,172 (GRCm39) missense possibly damaging 0.77
R1654:Megf8 UTSW 7 25,037,911 (GRCm39) missense possibly damaging 0.56
R1661:Megf8 UTSW 7 25,063,272 (GRCm39) missense probably damaging 1.00
R1880:Megf8 UTSW 7 25,034,285 (GRCm39) missense possibly damaging 0.68
R1962:Megf8 UTSW 7 25,062,976 (GRCm39) missense probably damaging 1.00
R2077:Megf8 UTSW 7 25,053,163 (GRCm39) missense probably benign 0.15
R2127:Megf8 UTSW 7 25,064,007 (GRCm39) missense possibly damaging 0.73
R2129:Megf8 UTSW 7 25,030,140 (GRCm39) missense probably damaging 0.98
R2199:Megf8 UTSW 7 25,039,039 (GRCm39) missense possibly damaging 0.87
R2201:Megf8 UTSW 7 25,040,170 (GRCm39) missense probably damaging 1.00
R2205:Megf8 UTSW 7 25,041,173 (GRCm39) missense probably benign 0.13
R2207:Megf8 UTSW 7 25,049,222 (GRCm39) missense probably damaging 0.97
R2361:Megf8 UTSW 7 25,048,379 (GRCm39) missense possibly damaging 0.94
R2680:Megf8 UTSW 7 25,016,981 (GRCm39) missense probably benign 0.01
R3084:Megf8 UTSW 7 25,048,444 (GRCm39) missense probably damaging 1.00
R3085:Megf8 UTSW 7 25,048,444 (GRCm39) missense probably damaging 1.00
R3086:Megf8 UTSW 7 25,048,444 (GRCm39) missense probably damaging 1.00
R3433:Megf8 UTSW 7 25,059,549 (GRCm39) missense probably benign 0.00
R3939:Megf8 UTSW 7 25,058,627 (GRCm39) missense probably benign 0.07
R4022:Megf8 UTSW 7 25,037,200 (GRCm39) missense probably damaging 1.00
R4214:Megf8 UTSW 7 25,054,793 (GRCm39) missense probably benign 0.03
R4357:Megf8 UTSW 7 25,055,174 (GRCm39) missense probably benign 0.02
R4521:Megf8 UTSW 7 25,042,126 (GRCm39) missense probably benign 0.19
R4620:Megf8 UTSW 7 25,054,523 (GRCm39) missense possibly damaging 0.92
R4700:Megf8 UTSW 7 25,062,940 (GRCm39) missense probably damaging 1.00
R4916:Megf8 UTSW 7 25,039,089 (GRCm39) missense probably benign 0.24
R4940:Megf8 UTSW 7 25,060,131 (GRCm39) missense probably damaging 1.00
R5048:Megf8 UTSW 7 25,030,517 (GRCm39) missense possibly damaging 0.71
R5258:Megf8 UTSW 7 25,047,751 (GRCm39) missense possibly damaging 0.88
R5271:Megf8 UTSW 7 25,041,131 (GRCm39) missense probably damaging 1.00
R5390:Megf8 UTSW 7 25,039,714 (GRCm39) missense possibly damaging 0.92
R5391:Megf8 UTSW 7 25,039,714 (GRCm39) missense possibly damaging 0.92
R5708:Megf8 UTSW 7 25,034,022 (GRCm39) missense probably benign 0.03
R5752:Megf8 UTSW 7 25,054,539 (GRCm39) missense probably damaging 0.97
R5930:Megf8 UTSW 7 25,025,866 (GRCm39) nonsense probably null
R6037:Megf8 UTSW 7 25,063,831 (GRCm39) missense probably damaging 1.00
R6037:Megf8 UTSW 7 25,063,831 (GRCm39) missense probably damaging 1.00
R6153:Megf8 UTSW 7 25,046,796 (GRCm39) missense possibly damaging 0.93
R6210:Megf8 UTSW 7 25,043,145 (GRCm39) missense possibly damaging 0.90
R6457:Megf8 UTSW 7 25,049,120 (GRCm39) missense probably damaging 0.99
R6659:Megf8 UTSW 7 25,058,159 (GRCm39) missense probably benign 0.38
R6867:Megf8 UTSW 7 25,030,460 (GRCm39) missense probably benign 0.42
R6896:Megf8 UTSW 7 25,029,357 (GRCm39) missense probably benign 0.00
R6899:Megf8 UTSW 7 25,060,138 (GRCm39) missense probably damaging 1.00
R6905:Megf8 UTSW 7 25,037,357 (GRCm39) missense probably benign 0.02
R7099:Megf8 UTSW 7 25,045,945 (GRCm39) missense probably damaging 0.99
R7172:Megf8 UTSW 7 25,043,092 (GRCm39) missense probably damaging 0.99
R7378:Megf8 UTSW 7 25,048,367 (GRCm39) missense probably damaging 1.00
R7427:Megf8 UTSW 7 25,037,796 (GRCm39) missense probably benign 0.44
R7492:Megf8 UTSW 7 25,053,273 (GRCm39) missense probably benign 0.24
R7699:Megf8 UTSW 7 25,029,353 (GRCm39) missense possibly damaging 0.91
R7700:Megf8 UTSW 7 25,029,353 (GRCm39) missense possibly damaging 0.91
R7756:Megf8 UTSW 7 25,041,850 (GRCm39) critical splice donor site probably null
R7758:Megf8 UTSW 7 25,041,850 (GRCm39) critical splice donor site probably null
R7786:Megf8 UTSW 7 25,017,120 (GRCm39) critical splice donor site probably null
R7797:Megf8 UTSW 7 25,034,022 (GRCm39) missense probably damaging 0.99
R7881:Megf8 UTSW 7 25,040,060 (GRCm39) missense possibly damaging 0.72
R8165:Megf8 UTSW 7 25,053,298 (GRCm39) missense probably damaging 1.00
R8258:Megf8 UTSW 7 25,057,848 (GRCm39) missense probably benign 0.03
R8259:Megf8 UTSW 7 25,057,848 (GRCm39) missense probably benign 0.03
R8328:Megf8 UTSW 7 25,046,917 (GRCm39) missense probably benign 0.05
R8362:Megf8 UTSW 7 25,039,943 (GRCm39) missense probably benign 0.04
R8680:Megf8 UTSW 7 25,059,166 (GRCm39) critical splice acceptor site probably null
R9080:Megf8 UTSW 7 25,041,131 (GRCm39) missense probably damaging 1.00
R9297:Megf8 UTSW 7 25,030,511 (GRCm39) missense probably damaging 0.99
R9314:Megf8 UTSW 7 25,029,297 (GRCm39) missense probably damaging 0.98
R9530:Megf8 UTSW 7 25,030,124 (GRCm39) missense probably benign 0.30
R9557:Megf8 UTSW 7 25,058,511 (GRCm39) missense possibly damaging 0.86
R9592:Megf8 UTSW 7 25,028,228 (GRCm39) missense probably benign 0.29
R9612:Megf8 UTSW 7 25,054,488 (GRCm39) missense probably benign 0.40
R9629:Megf8 UTSW 7 25,043,194 (GRCm39) missense possibly damaging 0.76
R9643:Megf8 UTSW 7 25,046,907 (GRCm39) missense probably damaging 1.00
R9666:Megf8 UTSW 7 25,030,166 (GRCm39) missense possibly damaging 0.65
R9745:Megf8 UTSW 7 25,058,133 (GRCm39) missense possibly damaging 0.62
Z1088:Megf8 UTSW 7 25,039,094 (GRCm39) missense possibly damaging 0.87
Z1177:Megf8 UTSW 7 25,046,794 (GRCm39) missense probably damaging 0.99
Z1177:Megf8 UTSW 7 25,045,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTGAGTGGCATCAGAGC -3'
(R):5'- CAGAGTGATAAGTGCTGGGGTC -3'

Sequencing Primer
(F):5'- GAGTGGCATCAGAGCACCAAC -3'
(R):5'- GCACCCCCTAGCCAGGAAC -3'
Posted On 2022-04-18