Incidental Mutation 'R6659:Megf8'
ID 526762
Institutional Source Beutler Lab
Gene Symbol Megf8
Ensembl Gene ENSMUSG00000045039
Gene Name multiple EGF-like-domains 8
Synonyms m687Ddg, b2b1702Clo, Egfl4, b2b288Clo
MMRRC Submission 044779-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6659 (G1)
Quality Score 213.009
Status Not validated
Chromosome 7
Chromosomal Location 25016589-25065342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25058159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 2144 (H2144Q)
Ref Sequence ENSEMBL: ENSMUSP00000122192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128119]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000128119
AA Change: H2144Q

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: H2144Q

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,133 (GRCm39) D212G probably damaging Het
Add1 C T 5: 34,770,639 (GRCm39) A250V possibly damaging Het
Atxn2 A G 5: 121,916,027 (GRCm39) N411S probably benign Het
AW551984 T C 9: 39,500,395 (GRCm39) T788A probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddx46 A G 13: 55,817,537 (GRCm39) T721A probably damaging Het
Eif2b1 G A 5: 124,717,171 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,905,243 (GRCm39) K1241E probably damaging Het
Engase T A 11: 118,372,142 (GRCm39) Y145N probably benign Het
Fbrs C A 7: 127,087,091 (GRCm39) A674D probably damaging Het
Gm4884 G A 7: 40,694,046 (GRCm39) G672R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iars2 T A 1: 185,020,273 (GRCm39) I954F possibly damaging Het
Itgad A T 7: 127,785,120 (GRCm39) I310F probably damaging Het
Kcnmb3 A G 3: 32,526,594 (GRCm39) V199A possibly damaging Het
Kctd12 G T 14: 103,219,622 (GRCm39) D85E probably damaging Het
Lama1 G A 17: 68,125,630 (GRCm39) R2929H probably damaging Het
Lgmn T A 12: 102,368,951 (GRCm39) Y176F probably benign Het
Lipo3 A G 19: 33,533,828 (GRCm39) F335L possibly damaging Het
Map2k3 T C 11: 60,833,150 (GRCm39) S46P probably benign Het
Neb A T 2: 52,124,365 (GRCm39) W3694R probably damaging Het
Nek10 A G 14: 14,861,684 (GRCm38) E580G probably benign Het
Obscn G A 11: 58,929,835 (GRCm39) P5930S probably damaging Het
Palld A G 8: 61,986,477 (GRCm39) F621L probably benign Het
Pkn2 A T 3: 142,509,348 (GRCm39) I732N probably damaging Het
Plpbp T A 8: 27,542,307 (GRCm39) I214N possibly damaging Het
Ppp1r37 A G 7: 19,266,048 (GRCm39) S573P probably benign Het
Prg4 C A 1: 150,336,432 (GRCm39) C97F probably damaging Het
Prmt2 T C 10: 76,053,208 (GRCm39) D269G possibly damaging Het
Ptbp3 T A 4: 59,517,640 (GRCm39) L80F probably damaging Het
Reep1 T A 6: 71,750,179 (GRCm39) F64I probably damaging Het
Srcap C A 7: 127,141,563 (GRCm39) P1720Q probably damaging Het
Ssr1 A T 13: 38,171,666 (GRCm39) F124I probably damaging Het
Tbx18 A G 9: 87,589,864 (GRCm39) L358P probably damaging Het
Tfpt T C 7: 3,623,835 (GRCm39) K71E probably benign Het
Tmem132a C A 19: 10,837,685 (GRCm39) G542C probably damaging Het
Tmem135 C A 7: 88,956,371 (GRCm39) L81F probably benign Het
Tmem135 A T 7: 88,956,372 (GRCm39) L81* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Washc5 A G 15: 59,212,739 (GRCm39) probably null Het
Zfp24 T C 18: 24,150,391 (GRCm39) E173G possibly damaging Het
Zgrf1 T C 3: 127,410,155 (GRCm39) I1814T probably 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
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
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'- GGGATAGTCATGAAGAGATCTCCTG -3'
(R):5'- TCTTTCAGTAGGCTGCTGGC -3'

Sequencing Primer
(F):5'- AGATCTCCTGGGTAAAGGCCTG -3'
(R):5'- ACTATGCTCCTCCAGAGACTC -3'
Posted On 2018-07-23