Incidental Mutation 'IGL00781:Fbln7'
ID13473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln7
Ensembl Gene ENSMUSG00000027386
Gene Namefibulin 7
Synonyms1600015H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL00781
Quality Score
Status
Chromosome2
Chromosomal Location128862981-128897034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 128893851 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 253 (R253Q)
Ref Sequence ENSEMBL: ENSMUSP00000105953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028864] [ENSMUST00000110324]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028864
AA Change: R253Q

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: R253Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
CCP 81 134 7.5e-15 SMART
EGF_CA 136 172 1.46e-7 SMART
low complexity region 177 189 N/A INTRINSIC
EGF_CA 225 270 2.08e-12 SMART
EGF 274 320 1.95e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110324
AA Change: R253Q

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: R253Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
CCP 81 134 7.5e-15 SMART
EGF_CA 136 172 1.46e-7 SMART
low complexity region 177 189 N/A INTRINSIC
EGF_CA 225 270 2.08e-12 SMART
EGF 274 320 1.95e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,966,026 S489P probably benign Het
Adam8 A T 7: 139,987,245 N431K probably damaging Het
Add1 A G 5: 34,613,358 H271R probably damaging Het
Adgrv1 G A 13: 81,578,230 L559F probably benign Het
Cdk17 A G 10: 93,232,416 Y312C probably damaging Het
Cemip A G 7: 83,947,280 I1092T possibly damaging Het
Col20a1 G T 2: 181,003,479 V885F possibly damaging Het
Dcc A G 18: 71,809,195 S284P probably benign Het
Ercc4 T C 16: 13,125,369 V284A possibly damaging Het
Fam184b A T 5: 45,555,192 probably null Het
Gfm2 T C 13: 97,149,339 F112S probably damaging Het
Gxylt1 C T 15: 93,254,392 R222H probably damaging Het
Madd T C 2: 91,146,928 I1385V probably benign Het
Pkn3 C A 2: 30,083,390 probably benign Het
Sppl2a T A 2: 126,919,720 N288I probably benign Het
St14 A G 9: 31,103,779 S308P probably damaging Het
Syne2 C A 12: 76,024,062 P4430T probably benign Het
Taf6l C T 19: 8,773,661 G43D probably damaging Het
Trim11 T C 11: 58,990,697 L472P probably benign Het
Usp2 C T 9: 44,089,165 R284* probably null Het
Other mutations in Fbln7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Fbln7 APN 2 128889791 missense probably benign 0.23
IGL02383:Fbln7 APN 2 128895557 missense probably benign 0.00
IGL03273:Fbln7 APN 2 128895470 missense probably benign 0.00
R0463:Fbln7 UTSW 2 128877511 missense probably benign 0.06
R0541:Fbln7 UTSW 2 128877534 splice site probably benign
R1036:Fbln7 UTSW 2 128893895 missense possibly damaging 0.84
R1381:Fbln7 UTSW 2 128877379 missense probably damaging 1.00
R1466:Fbln7 UTSW 2 128877429 missense probably benign 0.00
R1466:Fbln7 UTSW 2 128877429 missense probably benign 0.00
R1584:Fbln7 UTSW 2 128877429 missense probably benign 0.00
R1769:Fbln7 UTSW 2 128893762 splice site probably benign
R1855:Fbln7 UTSW 2 128893835 missense possibly damaging 0.65
R2065:Fbln7 UTSW 2 128877466 missense probably damaging 0.99
R2066:Fbln7 UTSW 2 128877466 missense probably damaging 0.99
R2067:Fbln7 UTSW 2 128877466 missense probably damaging 0.99
R4666:Fbln7 UTSW 2 128894910 splice site probably null
R4679:Fbln7 UTSW 2 128894886 missense probably damaging 1.00
R4694:Fbln7 UTSW 2 128880425 splice site probably null
R5933:Fbln7 UTSW 2 128877498 missense probably benign
R6211:Fbln7 UTSW 2 128895340 missense probably damaging 1.00
R6606:Fbln7 UTSW 2 128877376 missense possibly damaging 0.71
Posted On2012-12-06