Incidental Mutation 'R9314:Megf8'
ID 705773
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 # R9314 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25016589-25065342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25029297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 280 (H280Q)
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: H280Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: H280Q

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,547,593 (GRCm39) N260K possibly damaging Het
Anapc1 G A 2: 128,464,420 (GRCm39) S1692L possibly damaging Het
Brca2 A G 5: 150,474,359 (GRCm39) R2421G probably damaging Het
Cad A G 5: 31,234,988 (GRCm39) Y2143C probably damaging Het
Calr3 T A 8: 73,178,535 (GRCm39) D356V possibly damaging Het
Cd207 T A 6: 83,652,699 (GRCm39) T144S probably damaging Het
Cntln T C 4: 84,924,719 (GRCm39) L608P probably damaging Het
Dnah8 A T 17: 30,990,857 (GRCm39) Y3300F probably benign Het
Emb T C 13: 117,408,604 (GRCm39) I315T probably damaging Het
Esr1 T A 10: 4,916,181 (GRCm39) V456E possibly damaging Het
Evpl A T 11: 116,118,503 (GRCm39) H701Q probably benign Het
F5 C T 1: 164,029,146 (GRCm39) T1715I probably benign Het
Fut10 T A 8: 31,691,504 (GRCm39) H116Q probably damaging Het
Gm40460 ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,447 (GRCm39) probably benign Het
Gm5591 T C 7: 38,221,884 (GRCm39) T62A probably benign Het
Hectd4 T C 5: 121,437,708 (GRCm39) probably null Het
Ifit1bl1 G C 19: 34,576,693 (GRCm39) Q3E probably benign Het
Ighg3 A T 12: 113,323,946 (GRCm39) D147E Het
Ighv8-13 A G 12: 115,728,996 (GRCm39) V87A possibly damaging Het
Kdelr1 A G 7: 45,531,050 (GRCm39) T160A probably benign Het
Kdm2a A G 19: 4,372,510 (GRCm39) L945P probably damaging Het
Krt36 C T 11: 99,994,227 (GRCm39) W283* probably null Het
Lamp3 T C 16: 19,492,192 (GRCm39) M351V probably benign Het
Lox C G 18: 52,653,911 (GRCm39) R395P probably damaging Het
Lrrtm3 T C 10: 63,925,499 (GRCm39) probably benign Het
Madcam1 C A 10: 79,501,481 (GRCm39) T182K probably damaging Het
Mrgprb5 A G 7: 47,818,174 (GRCm39) I187T probably benign Het
Muc1 T C 3: 89,138,825 (GRCm39) V478A probably damaging Het
Mug1 T G 6: 121,834,296 (GRCm39) V359G probably damaging Het
Myh4 A G 11: 67,151,141 (GRCm39) H1932R probably benign Het
Naaladl1 A C 19: 6,162,401 (GRCm39) N448H probably damaging Het
Or52b1 A T 7: 104,979,081 (GRCm39) I106N probably damaging Het
Or5a1 C T 19: 12,097,144 (GRCm39) E311K probably benign Het
Pkd1l1 A T 11: 8,829,153 (GRCm39) Y1480N Het
Poll T C 19: 45,547,091 (GRCm39) E127G probably benign Het
Ppl T C 16: 4,922,367 (GRCm39) N305S possibly damaging Het
Prss53 A G 7: 127,490,039 (GRCm39) V17A probably benign Het
Ptprj A G 2: 90,301,631 (GRCm39) V74A possibly damaging Het
Rapgef4 A T 2: 72,064,983 (GRCm39) H804L possibly damaging Het
Rassf8 A G 6: 145,762,296 (GRCm39) T356A probably damaging Het
Rptor T C 11: 119,786,772 (GRCm39) S1246P probably benign Het
Setdb2 A T 14: 59,650,240 (GRCm39) I458N probably benign Het
Sgtb A G 13: 104,254,933 (GRCm39) K68E possibly damaging Het
Slc19a3 T G 1: 83,000,094 (GRCm39) I308L possibly damaging Het
Slc22a5 T C 11: 53,762,487 (GRCm39) D320G possibly damaging Het
Slc34a2 T C 5: 53,218,143 (GRCm39) S141P possibly damaging Het
Slc37a2 T C 9: 37,150,482 (GRCm39) T158A possibly damaging Het
Slc7a1 T C 5: 148,269,327 (GRCm39) I598V probably benign Het
Sphk2 T C 7: 45,361,158 (GRCm39) D282G probably damaging Het
Spty2d1 G T 7: 46,648,486 (GRCm39) P148T probably damaging Het
Supt3 A G 17: 45,352,250 (GRCm39) T310A probably benign Het
Supt5 T A 7: 28,019,799 (GRCm39) D457V probably damaging Het
Svep1 C T 4: 58,070,347 (GRCm39) G2480R probably damaging Het
Tbcd T C 11: 121,487,297 (GRCm39) V803A probably benign Het
Tex2 A T 11: 106,435,075 (GRCm39) C784S unknown Het
Thrb A G 14: 17,963,208 (GRCm38) H57R probably benign Het
Tmc4 T C 7: 3,679,723 (GRCm39) T34A possibly damaging Het
Tmprss2 T C 16: 97,400,459 (GRCm39) N4S probably benign Het
Trank1 A G 9: 111,195,049 (GRCm39) I1024M probably damaging Het
Trnau1ap C A 4: 132,056,697 (GRCm39) probably benign Het
Ttn A G 2: 76,566,710 (GRCm39) V28061A probably damaging Het
Txnl4b C A 8: 110,299,331 (GRCm39) P97Q probably benign Het
Ube4a T C 9: 44,854,023 (GRCm39) T573A probably benign Het
Vit A T 17: 78,927,044 (GRCm39) T330S probably benign Het
Wdr3 T C 3: 100,050,288 (GRCm39) I750V probably benign Het
Zfp59 C T 7: 27,554,029 (GRCm39) L494F 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
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
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'- GTCTCACGTCTGTCCGTCTG -3'
(R):5'- CCACCAGAGCAGCTGCAT -3'

Sequencing Primer
(F):5'- GCAGGGTCTCACATAGCTTAATCTG -3'
(R):5'- AGAGCAGCTGCATGGCCTG -3'
Posted On 2022-03-25