Incidental Mutation 'IGL02693:Fbln1'
ID 303816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Name fibulin 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # IGL02693
Quality Score
Status
Chromosome 15
Chromosomal Location 85090150-85170495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85113775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 170 (E170K)
Ref Sequence ENSEMBL: ENSMUSP00000105058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]
AlphaFold Q08879
Predicted Effect probably benign
Transcript: ENSMUST00000057410
AA Change: E170K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: E170K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
ANATO 36 69 3.67e-9 SMART
ANATO 77 110 1.61e-5 SMART
ANATO 112 144 2.23e-8 SMART
EGF 181 217 2.32e-1 SMART
EGF_CA 218 263 5.08e-7 SMART
EGF_CA 264 309 5.44e-7 SMART
EGF_CA 310 357 9.62e-8 SMART
EGF_CA 358 400 1.11e-12 SMART
EGF_CA 401 442 4.77e-12 SMART
EGF_CA 443 482 1.98e-9 SMART
EGF_CA 483 526 4.7e-11 SMART
EGF 530 580 1.25e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109432
AA Change: E170K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: E170K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
ANATO 36 69 3.67e-9 SMART
ANATO 77 110 1.61e-5 SMART
ANATO 112 144 2.23e-8 SMART
EGF 181 217 2.32e-1 SMART
EGF_CA 218 263 5.08e-7 SMART
EGF_CA 264 309 5.44e-7 SMART
EGF_CA 310 357 9.62e-8 SMART
EGF_CA 358 400 1.11e-12 SMART
EGF_CA 401 442 4.77e-12 SMART
EGF_CA 443 482 1.98e-9 SMART
EGF_CA 483 526 4.7e-11 SMART
EGF_CA 527 571 7.18e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,666,506 (GRCm39) D271G probably damaging Het
Agl A T 3: 116,540,077 (GRCm39) V1478E possibly damaging Het
Ckap5 C T 2: 91,400,556 (GRCm39) P636L probably damaging Het
Cnot1 A G 8: 96,500,113 (GRCm39) V127A probably damaging Het
Cs A G 10: 128,185,678 (GRCm39) probably benign Het
Gm5866 A T 5: 52,740,558 (GRCm39) noncoding transcript Het
Lpin3 T C 2: 160,746,975 (GRCm39) V794A probably damaging Het
Ly86 T G 13: 37,559,005 (GRCm39) I68S probably damaging Het
Mrps34 A G 17: 25,114,172 (GRCm39) I11V probably benign Het
Nsmce4a A G 7: 130,144,538 (GRCm39) S122P probably damaging Het
Olfm1 A G 2: 28,102,662 (GRCm39) E112G probably damaging Het
Or5w20 T G 2: 87,726,877 (GRCm39) C111W probably damaging Het
Parp9 A G 16: 35,777,340 (GRCm39) E428G probably benign Het
Phkb T G 8: 86,668,863 (GRCm39) F297V probably damaging Het
Pianp T G 6: 124,978,598 (GRCm39) F268V possibly damaging Het
Polr1a T C 6: 71,940,830 (GRCm39) probably benign Het
Prune2 G A 19: 17,101,855 (GRCm39) G2453E probably benign Het
Ptpn4 T C 1: 119,643,699 (GRCm39) N350D probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfc4 A G 16: 22,932,960 (GRCm39) S326P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc35f1 A T 10: 52,809,224 (GRCm39) L70F probably damaging Het
Slc5a7 T C 17: 54,583,947 (GRCm39) T448A probably benign Het
Spata31h1 T C 10: 82,121,092 (GRCm39) I3973V probably benign Het
Spmip9 C A 6: 70,890,488 (GRCm39) R101S possibly damaging Het
Stoml1 T A 9: 58,164,359 (GRCm39) I149N probably damaging Het
Sytl1 A T 4: 132,985,057 (GRCm39) C180S probably benign Het
Traf6 T C 2: 101,518,850 (GRCm39) L113P possibly damaging Het
Trappc9 A G 15: 72,835,542 (GRCm39) probably benign Het
Tubg2 T C 11: 101,051,725 (GRCm39) Y317H probably damaging Het
Zfp334 T C 2: 165,222,433 (GRCm39) T537A possibly damaging Het
Other mutations in Fbln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Fbln1 APN 15 85,111,238 (GRCm39) missense probably benign 0.00
IGL01017:Fbln1 APN 15 85,128,390 (GRCm39) missense possibly damaging 0.94
IGL02514:Fbln1 APN 15 85,128,463 (GRCm39) nonsense probably null
IGL02734:Fbln1 APN 15 85,111,182 (GRCm39) missense probably damaging 1.00
IGL02964:Fbln1 APN 15 85,115,663 (GRCm39) missense probably damaging 1.00
IGL03176:Fbln1 APN 15 85,128,507 (GRCm39) missense possibly damaging 0.69
IGL03274:Fbln1 APN 15 85,116,879 (GRCm39) critical splice donor site probably null
R0090:Fbln1 UTSW 15 85,108,489 (GRCm39) missense possibly damaging 0.94
R0148:Fbln1 UTSW 15 85,115,027 (GRCm39) missense probably damaging 0.97
R0393:Fbln1 UTSW 15 85,111,277 (GRCm39) missense probably damaging 0.99
R0564:Fbln1 UTSW 15 85,111,308 (GRCm39) missense probably benign 0.07
R1276:Fbln1 UTSW 15 85,113,791 (GRCm39) missense probably damaging 1.00
R1592:Fbln1 UTSW 15 85,115,665 (GRCm39) missense probably benign 0.00
R1687:Fbln1 UTSW 15 85,111,307 (GRCm39) missense probably benign 0.02
R2312:Fbln1 UTSW 15 85,147,549 (GRCm39) missense probably benign 0.28
R2363:Fbln1 UTSW 15 85,111,341 (GRCm39) critical splice donor site probably null
R3082:Fbln1 UTSW 15 85,149,454 (GRCm39) missense probably benign 0.25
R3083:Fbln1 UTSW 15 85,149,454 (GRCm39) missense probably benign 0.25
R3751:Fbln1 UTSW 15 85,111,279 (GRCm39) nonsense probably null
R3752:Fbln1 UTSW 15 85,111,279 (GRCm39) nonsense probably null
R3753:Fbln1 UTSW 15 85,111,279 (GRCm39) nonsense probably null
R4028:Fbln1 UTSW 15 85,111,317 (GRCm39) missense probably benign 0.05
R4406:Fbln1 UTSW 15 85,115,757 (GRCm39) critical splice donor site probably null
R4407:Fbln1 UTSW 15 85,115,757 (GRCm39) critical splice donor site probably null
R4408:Fbln1 UTSW 15 85,115,757 (GRCm39) critical splice donor site probably null
R4612:Fbln1 UTSW 15 85,122,760 (GRCm39) missense probably benign 0.00
R4811:Fbln1 UTSW 15 85,111,167 (GRCm39) critical splice acceptor site probably null
R5022:Fbln1 UTSW 15 85,121,827 (GRCm39) missense probably damaging 0.99
R5121:Fbln1 UTSW 15 85,121,872 (GRCm39) missense probably damaging 1.00
R7231:Fbln1 UTSW 15 85,090,353 (GRCm39) missense unknown
R7285:Fbln1 UTSW 15 85,121,829 (GRCm39) missense probably benign 0.01
R7492:Fbln1 UTSW 15 85,111,262 (GRCm39) missense probably damaging 1.00
R7742:Fbln1 UTSW 15 85,124,917 (GRCm39) missense probably damaging 1.00
R8100:Fbln1 UTSW 15 85,169,357 (GRCm39) missense probably damaging 1.00
R8379:Fbln1 UTSW 15 85,116,773 (GRCm39) missense probably damaging 1.00
R9018:Fbln1 UTSW 15 85,126,215 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16