Incidental Mutation 'R4940:Megf8'
ID 383000
Institutional Source Beutler Lab
Gene Symbol Megf8
Ensembl Gene ENSMUSG00000045039
Gene Name multiple EGF-like-domains 8
Synonyms m687Ddg, b2b1702Clo, Egfl4, b2b288Clo
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R4940 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25016589-25065342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25060131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 2341 (C2341S)
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: C2341S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: C2341S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153077
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,828,782 (GRCm39) T240A probably benign Het
Abca15 T C 7: 119,931,917 (GRCm39) Y57H probably benign Het
Adgrf4 A G 17: 42,977,420 (GRCm39) I641T possibly damaging Het
Ankrd11 A G 8: 123,616,560 (GRCm39) Y2410H probably damaging Het
Apbb2 C A 5: 66,609,604 (GRCm39) L14F probably null Het
Arhgdia T C 11: 120,470,061 (GRCm39) D204G probably damaging Het
Armh4 A T 14: 50,010,939 (GRCm39) M256K probably benign Het
Catsperd A T 17: 56,969,736 (GRCm39) Y610F possibly damaging Het
Cblb T A 16: 51,853,466 (GRCm39) D27E probably damaging Het
Ccdc180 A T 4: 45,917,453 (GRCm39) I893F probably damaging Het
Ccdc180 A G 4: 45,917,508 (GRCm39) H911R probably damaging Het
Cdh23 T A 10: 60,143,714 (GRCm39) I2966F probably damaging Het
Cfap299 A G 5: 98,885,495 (GRCm39) H134R possibly damaging Het
Chat G A 14: 32,141,062 (GRCm39) P445L probably damaging Het
Chdh G T 14: 29,754,809 (GRCm39) R273L possibly damaging Het
Clic3 T C 2: 25,347,929 (GRCm39) V72A probably benign Het
Cyp2d12 T A 15: 82,442,251 (GRCm39) D244E probably benign Het
Ddr1 T A 17: 36,001,022 (GRCm39) D241V probably damaging Het
Dock7 T A 4: 98,908,314 (GRCm39) K605N probably damaging Het
Dsg2 T A 18: 20,712,487 (GRCm39) F164I probably damaging Het
Dstyk T A 1: 132,380,844 (GRCm39) N446K probably damaging Het
Epb42 A T 2: 120,864,932 (GRCm39) L53Q probably damaging Het
Extl2 G C 3: 115,820,841 (GRCm39) K229N probably benign Het
Frmd4b T A 6: 97,275,051 (GRCm39) S617C probably damaging Het
Fscb C T 12: 64,520,588 (GRCm39) V293I probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm4978 A C 9: 69,358,154 (GRCm39) probably benign Het
Gm6729 A G 10: 86,376,252 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,932 (GRCm39) N293T probably benign Het
Herpud1 T C 8: 95,117,470 (GRCm39) I142T probably benign Het
Irak2 G A 6: 113,670,691 (GRCm39) V536I probably benign Het
Kcnu1 A T 8: 26,387,890 (GRCm39) probably null Het
Kdm4a A G 4: 118,018,951 (GRCm39) S422P probably benign Het
Lair1 T A 7: 4,031,948 (GRCm39) D53V probably benign Het
Lhx1 G T 11: 84,410,735 (GRCm39) Y196* probably null Het
Lrrc37a G A 11: 103,388,438 (GRCm39) T2329I unknown Het
Mag T C 7: 30,608,625 (GRCm39) D163G probably damaging Het
Magi3 A G 3: 103,958,708 (GRCm39) V459A probably damaging Het
Med13 A G 11: 86,178,944 (GRCm39) Y1451H probably damaging Het
Mppe1 A G 18: 67,361,095 (GRCm39) C221R probably damaging Het
Mtus1 T A 8: 41,494,515 (GRCm39) H39L possibly damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nutm2 T C 13: 50,628,909 (GRCm39) C658R possibly damaging Het
Olfm1 T C 2: 28,112,602 (GRCm39) V239A possibly damaging Het
Pcnx1 C T 12: 81,964,567 (GRCm39) H245Y possibly damaging Het
Pgm3 A G 9: 86,441,529 (GRCm39) L356S probably damaging Het
Pik3r4 C G 9: 105,546,193 (GRCm39) H207D probably benign Het
Pkd1l1 T C 11: 8,794,585 (GRCm39) T1859A probably benign Het
Pon3 A T 6: 5,221,625 (GRCm39) V335E possibly damaging Het
Ppp4r3b A G 11: 29,161,740 (GRCm39) T705A probably benign Het
Prmt7 T C 8: 106,963,910 (GRCm39) V268A probably benign Het
Psd C T 19: 46,310,856 (GRCm39) G398R probably damaging Het
Pygl A G 12: 70,253,155 (GRCm39) V188A probably damaging Het
Rnf13 T A 3: 57,703,627 (GRCm39) N110K probably damaging Het
Rnf170 C T 8: 26,615,939 (GRCm39) Q77* probably null Het
Rrp8 A T 7: 105,383,284 (GRCm39) Y327* probably null Het
Ruvbl2 T C 7: 45,074,150 (GRCm39) D228G probably damaging Het
Scgn T A 13: 24,173,807 (GRCm39) T35S probably benign Het
Scyl3 C T 1: 163,762,316 (GRCm39) P74S probably damaging Het
Sec61b T G 4: 47,483,074 (GRCm39) S123A probably benign Het
Sertad2 T C 11: 20,597,899 (GRCm39) S32P possibly damaging Het
Slc23a3 T C 1: 75,110,447 (GRCm39) probably null Het
Sult2a2 T G 7: 13,472,223 (GRCm39) V140G probably benign Het
Tbc1d4 A T 14: 101,744,667 (GRCm39) S320T probably benign Het
Trabd2b T C 4: 114,266,141 (GRCm39) Y52H probably damaging Het
Traf2 T C 2: 25,420,300 (GRCm39) E183G probably null Het
Trip10 G T 17: 57,570,017 (GRCm39) V561F possibly damaging Het
Ttc7 G T 17: 87,614,386 (GRCm39) V184F probably benign Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unk A G 11: 115,944,491 (GRCm39) E414G possibly damaging Het
Usp42 T C 5: 143,705,517 (GRCm39) N365D probably damaging Het
Zbtb26 A T 2: 37,326,781 (GRCm39) I85K probably damaging Het
Zfhx2 A T 14: 55,303,891 (GRCm39) H1364Q 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
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
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'- TGTGCCTGCCCTTCTGAAAC -3'
(R):5'- ATGTACAAGATGACCTCCATTCC -3'

Sequencing Primer
(F):5'- TGGAAGTCAGAGCATAGC -3'
(R):5'- GATGACCTCCATTCCAAACCAGG -3'
Posted On 2016-04-27