Incidental Mutation 'R2129:Megf8'
ID 227834
Institutional Source Beutler Lab
Gene Symbol Megf8
Ensembl Gene ENSMUSG00000045039
Gene Name multiple EGF-like-domains 8
Synonyms m687Ddg, b2b1702Clo, Egfl4, b2b288Clo
MMRRC Submission 040132-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R2129 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25016589-25065342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25030140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 425 (L425P)
Ref Sequence ENSEMBL: ENSMUSP00000122192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128119]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000128119
AA Change: L425P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: L425P

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
Meta Mutation Damage Score 0.5673 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (91/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abhd14a A T 9: 106,318,064 (GRCm39) L125Q probably null Het
Abhd17b T A 19: 21,658,413 (GRCm39) probably null Het
Abo G A 2: 26,736,586 (GRCm39) T61I probably benign Het
Adamts15 T C 9: 30,815,799 (GRCm39) T686A probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Anxa2 A T 9: 69,383,410 (GRCm39) Y75F possibly damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Bri3bp T A 5: 125,528,735 (GRCm39) L48* probably null Het
Car7 T A 8: 105,275,605 (GRCm39) C185S possibly damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chst10 A G 1: 38,904,776 (GRCm39) Y203H probably benign Het
Clca3a1 T C 3: 144,722,526 (GRCm39) D282G probably damaging Het
Coq3 T G 4: 21,900,342 (GRCm39) S190A probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Cygb A G 11: 116,540,668 (GRCm39) L106P probably damaging Het
Dab2 G T 15: 6,365,864 (GRCm39) E87* probably null Het
Dcst1 T A 3: 89,264,852 (GRCm39) I299F probably damaging Het
Dennd4a T G 9: 64,813,256 (GRCm39) probably null Het
Depdc7 A G 2: 104,558,518 (GRCm39) S168P probably benign Het
Dicer1 G A 12: 104,688,290 (GRCm39) T429I probably damaging Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Dock2 T C 11: 34,618,242 (GRCm39) M125V probably damaging Het
Dync2h1 A G 9: 7,175,289 (GRCm39) S107P possibly damaging Het
Emb T C 13: 117,404,082 (GRCm39) V278A probably damaging Het
Firrm T C 1: 163,794,026 (GRCm39) Y518C probably damaging Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Galm T C 17: 80,490,647 (GRCm39) I268T probably benign Het
Gm5581 A C 6: 131,145,247 (GRCm39) noncoding transcript Het
Gpr6 G A 10: 40,947,168 (GRCm39) S138L possibly damaging Het
Hesx1 C A 14: 26,722,802 (GRCm39) H42Q possibly damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Kctd19 T C 8: 106,111,804 (GRCm39) T31A probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krtap19-3 T C 16: 88,674,863 (GRCm39) probably benign Het
Lin28a T A 4: 133,745,465 (GRCm39) I43F probably benign Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 A G 4: 123,262,608 (GRCm39) probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Mybpc1 T G 10: 88,387,314 (GRCm39) T466P probably damaging Het
Myo10 T C 15: 25,781,885 (GRCm39) Y1127H probably benign Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Myo9b T C 8: 71,786,343 (GRCm39) Y670H probably damaging Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Neurod2 G T 11: 98,218,414 (GRCm39) A250E possibly damaging Het
Nherf1 A T 11: 115,067,270 (GRCm39) I174F probably damaging Het
Nipsnap1 C A 11: 4,838,932 (GRCm39) N119K probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Or10ab4 T A 7: 107,655,111 (GRCm39) N307K probably benign Het
Or11h23 A G 14: 50,948,093 (GRCm39) Y102C probably damaging Het
Or2t48 T C 11: 58,420,437 (GRCm39) D125G probably damaging Het
Pald1 A G 10: 61,184,085 (GRCm39) probably null Het
Palld T C 8: 62,330,395 (GRCm39) S161G probably benign Het
Paqr9 T A 9: 95,443,122 (GRCm39) F371I probably benign Het
Pear1 A T 3: 87,665,666 (GRCm39) C120* probably null Het
Pla2g4e A T 2: 120,013,292 (GRCm39) F343I probably damaging Het
Plxdc2 A T 2: 16,516,902 (GRCm39) Y61F probably benign Het
Polh G A 17: 46,499,014 (GRCm39) Q234* probably null Het
Prkce T A 17: 86,803,463 (GRCm39) M454K possibly damaging Het
Proser1 C A 3: 53,385,366 (GRCm39) T416K probably benign Het
Prr14l G T 5: 32,989,172 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rp1l1 T A 14: 64,266,415 (GRCm39) V667D possibly damaging Het
Rpp40 A T 13: 36,082,604 (GRCm39) C256* probably null Het
Rps6ka5 A G 12: 100,644,797 (GRCm39) L51P probably damaging Het
Rtp2 C T 16: 23,746,457 (GRCm39) C78Y probably damaging Het
Ryr3 A G 2: 112,508,715 (GRCm39) probably benign Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc6a21 T G 7: 44,932,197 (GRCm39) probably null Het
Smo A G 6: 29,757,313 (GRCm39) Y476C probably damaging Het
Tacr3 A T 3: 134,560,621 (GRCm39) T187S probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tasp1 T C 2: 139,890,164 (GRCm39) K71E possibly damaging Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Tmem41a T C 16: 21,764,911 (GRCm39) probably null Het
Tmem63a A G 1: 180,793,105 (GRCm39) N459D probably benign Het
Ube2k A G 5: 65,752,269 (GRCm39) T151A probably damaging Het
Ubr1 T C 2: 120,773,034 (GRCm39) E402G probably benign Het
Ulk4 T A 9: 120,981,248 (GRCm39) I897F probably benign Het
Usp30 A G 5: 114,249,224 (GRCm39) E176G probably damaging Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Wdr17 C T 8: 55,085,416 (GRCm39) V1236M probably damaging Het
Zbtb32 T C 7: 30,290,918 (GRCm39) K126E possibly damaging Het
Zeb1 A T 18: 5,767,681 (GRCm39) S731C possibly damaging 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
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
R9378:Megf8 UTSW 7 25,039,840 (GRCm39) critical splice acceptor site probably null
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'- GCTCTTGCCAGATTATGCAAGATG -3'
(R):5'- TGTCCAGGCTCAGTTTCAGC -3'

Sequencing Primer
(F):5'- GATTATGCAAGATGCCAGACCCTG -3'
(R):5'- AGGCTCAGTTTCAGCTCAGG -3'
Posted On 2014-09-17