Incidental Mutation 'IGL03273:Fbln7'
ID415333
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? Non essential (E-score: 0.000) question?
Stock #IGL03273
Quality Score
Status
Chromosome2
Chromosomal Location128862981-128897034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128895470 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 402 (T402S)
Ref Sequence ENSEMBL: ENSMUSP00000105953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028864] [ENSMUST00000110324]
Predicted Effect probably benign
Transcript: ENSMUST00000028864
AA Change: T402S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: T402S

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 probably benign
Transcript: ENSMUST00000110324
AA Change: T402S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: T402S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524N10Rik A T X: 154,339,701 F114L probably benign Het
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam32 T A 8: 24,921,340 I102F probably damaging Het
Aldoart1 T C 4: 72,852,109 K154R probably benign Het
BC052040 A G 2: 115,631,991 Y68C probably damaging Het
Cep63 T C 9: 102,602,467 K349E probably benign Het
Col28a1 A G 6: 8,103,484 probably benign Het
Dennd4c A G 4: 86,777,796 N130S probably damaging Het
Dnah5 T G 15: 28,458,649 F4477L probably damaging Het
Frem2 A C 3: 53,537,509 Y2400* probably null Het
Gm11937 C T 11: 99,609,801 probably benign Het
Guca1a T C 17: 47,395,173 D127G probably benign Het
Hrh3 T A 2: 180,100,648 T396S possibly damaging Het
Map1a A G 2: 121,300,238 N512D probably damaging Het
Mysm1 A C 4: 94,965,718 S215A probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nup93 T A 8: 94,306,277 D556E probably benign Het
Ofcc1 T A 13: 40,180,525 K363N probably damaging Het
Psme4 T A 11: 30,848,130 S1374R probably damaging Het
Slitrk2 T C X: 66,653,996 I31T probably benign Het
Stk40 A G 4: 126,123,806 N42S possibly damaging Het
Tarbp1 A G 8: 126,453,835 L600P probably damaging Het
Tjp1 T C 7: 65,299,799 S1692G probably damaging Het
Tmem63c G T 12: 87,081,802 V534L probably damaging Het
Vmn2r77 A G 7: 86,811,286 K607E probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T probably benign Het
Other mutations in Fbln7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Fbln7 APN 2 128893851 missense possibly damaging 0.93
IGL02161:Fbln7 APN 2 128889791 missense probably benign 0.23
IGL02383:Fbln7 APN 2 128895557 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
R7519:Fbln7 UTSW 2 128893865 missense probably benign 0.00
Posted On2016-08-02