Incidental Mutation 'R0020:Megf9'
ID 8389
Institutional Source Beutler Lab
Gene Symbol Megf9
Ensembl Gene ENSMUSG00000039270
Gene Name multiple EGF-like-domains 9
Synonyms Egfl5, 4933405H16Rik
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R0020 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 70350164-70453165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70406386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 260 (V260A)
Ref Sequence ENSEMBL: ENSMUSP00000102982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037881] [ENSMUST00000107359]
AlphaFold Q8BH27
Predicted Effect probably benign
Transcript: ENSMUST00000037881
AA Change: V260A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040801
Gene: ENSMUSG00000039270
AA Change: V260A

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
low complexity region 183 199 N/A INTRINSIC
EGF_Lam 202 252 3.97e-9 SMART
TNFR 236 271 3.38e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107359
AA Change: V260A

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102982
Gene: ENSMUSG00000039270
AA Change: V260A

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
low complexity region 183 199 N/A INTRINSIC
EGF_Lam 202 249 2.8e-9 SMART
TNFR 236 272 1.26e-1 SMART
EGF_Lam 252 296 2.13e-9 SMART
EGF_Lam 299 344 1.42e-10 SMART
EGF_Lam 347 395 6.3e-3 SMART
EGF_Lam 398 447 3.05e-10 SMART
transmembrane domain 513 535 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 76.6%
  • 10x: 60.3%
  • 20x: 42.3%
Validation Efficiency 92% (100/109)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Akap11 A T 14: 78,755,617 (GRCm39) I74K probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Ccser1 C A 6: 61,290,788 (GRCm39) T490K possibly damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnga4 G T 7: 105,054,884 (GRCm39) R53L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcho1 C T 8: 72,169,514 (GRCm39) G131R probably benign Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Kcna10 A T 3: 107,102,736 (GRCm39) I456F probably damaging Het
Loxl2 T C 14: 69,898,242 (GRCm39) V232A probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Nampt A T 12: 32,891,012 (GRCm39) S278C probably damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Pamr1 C T 2: 102,472,423 (GRCm39) T574I probably benign Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pkhd1l1 A G 15: 44,420,268 (GRCm39) Y3002C probably damaging Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prdm4 T C 10: 85,743,487 (GRCm39) N256S probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Sptbn5 T A 2: 119,896,112 (GRCm39) I779F probably damaging Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp629 C G 7: 127,210,341 (GRCm39) E489D probably benign Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Megf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Megf9 APN 4 70,367,028 (GRCm39) missense probably null 1.00
IGL01697:Megf9 APN 4 70,351,709 (GRCm39) missense possibly damaging 0.65
IGL03291:Megf9 APN 4 70,406,387 (GRCm39) missense probably benign 0.05
R0325:Megf9 UTSW 4 70,374,178 (GRCm39) missense probably damaging 1.00
R0542:Megf9 UTSW 4 70,353,585 (GRCm39) missense probably benign
R1144:Megf9 UTSW 4 70,452,861 (GRCm39) missense probably benign 0.10
R1843:Megf9 UTSW 4 70,453,022 (GRCm39) missense probably damaging 1.00
R2085:Megf9 UTSW 4 70,367,004 (GRCm39) missense probably damaging 1.00
R2168:Megf9 UTSW 4 70,351,679 (GRCm39) missense probably damaging 0.99
R4656:Megf9 UTSW 4 70,367,004 (GRCm39) missense probably damaging 1.00
R4718:Megf9 UTSW 4 70,367,015 (GRCm39) missense possibly damaging 0.49
R4832:Megf9 UTSW 4 70,452,665 (GRCm39) missense probably damaging 0.99
R6573:Megf9 UTSW 4 70,406,409 (GRCm39) nonsense probably null
R6978:Megf9 UTSW 4 70,351,766 (GRCm39) missense probably benign 0.12
R7243:Megf9 UTSW 4 70,353,708 (GRCm39) missense probably benign 0.03
R7481:Megf9 UTSW 4 70,351,679 (GRCm39) missense probably damaging 0.99
R8063:Megf9 UTSW 4 70,406,495 (GRCm39) missense probably damaging 1.00
R8460:Megf9 UTSW 4 70,374,208 (GRCm39) missense probably damaging 1.00
R8746:Megf9 UTSW 4 70,353,511 (GRCm39) missense probably damaging 1.00
R8983:Megf9 UTSW 4 70,353,634 (GRCm39) missense probably benign 0.29
R9318:Megf9 UTSW 4 70,353,691 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-27