Incidental Mutation 'IGL01017:Fbln1'
ID54003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Namefibulin 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.874) question?
Stock #IGL01017
Quality Score
Status
Chromosome15
Chromosomal Location85205949-85286535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85244189 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 529 (D529G)
Ref Sequence ENSEMBL: ENSMUSP00000105058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057410
AA Change: D529G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: D529G

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 possibly damaging
Transcript: ENSMUST00000109432
AA Change: D529G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: D529G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,459,359 A29T probably damaging Het
Ankrd11 T C 8: 122,894,728 K795R probably damaging Het
Atg3 T C 16: 45,183,811 probably null Het
Ccdc169 T C 3: 55,171,318 V200A possibly damaging Het
Cdr2l C A 11: 115,392,738 Q141K probably damaging Het
Cts3 T A 13: 61,568,174 I93F probably damaging Het
Eif2ak2 A G 17: 78,863,858 L372S probably damaging Het
Elovl5 T C 9: 77,981,571 I240T possibly damaging Het
Farp1 C T 14: 121,272,774 A728V possibly damaging Het
Flnb G T 14: 7,917,390 probably benign Het
Gm14401 A T 2: 177,086,832 H237L probably damaging Het
Gm4951 T A 18: 60,245,436 D14E possibly damaging Het
Hivep3 T A 4: 120,099,246 H1586Q probably damaging Het
Igkv12-98 T A 6: 68,571,109 L74* probably null Het
Ktn1 T C 14: 47,708,878 S917P probably benign Het
Lama3 T C 18: 12,441,143 probably null Het
Lamb1 A G 12: 31,301,064 D723G possibly damaging Het
Lrrc39 A T 3: 116,570,851 R130S probably benign Het
Mcm3 A C 1: 20,804,815 probably null Het
Muc19 T G 15: 91,880,707 noncoding transcript Het
Necap2 A G 4: 141,067,568 F266S probably damaging Het
Nfil3 C T 13: 52,968,019 G283D probably damaging Het
Nlrp4e A T 7: 23,321,667 K526N possibly damaging Het
Olfr1178 T A 2: 88,391,901 V218E possibly damaging Het
Olfr53 A G 7: 140,652,476 T166A probably benign Het
Pelp1 G A 11: 70,396,894 R401W probably damaging Het
Phldb3 G T 7: 24,628,870 C613F probably damaging Het
Ppp1ca T C 19: 4,193,111 Y93H probably damaging Het
Ppp1r3b A G 8: 35,384,322 E105G probably benign Het
Prb1 G T 6: 132,207,231 Q480K unknown Het
Ryr1 A T 7: 29,082,543 I2007N probably damaging Het
Scgb1b27 A G 7: 34,021,803 T39A probably damaging Het
Serpinb3b T C 1: 107,154,457 D359G probably benign Het
Sgo2b G T 8: 63,926,523 R1092S probably benign Het
Sh3pxd2b C A 11: 32,403,993 S187* probably null Het
Slc11a1 T A 1: 74,379,796 L92H probably damaging Het
Smc3 T C 19: 53,629,327 V585A probably damaging Het
Sp6 A G 11: 97,022,603 probably benign Het
Spata16 A T 3: 26,840,722 I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 H33L probably benign Het
Tnxb T A 17: 34,693,808 D1642E probably damaging Het
Ttc1 T C 11: 43,730,493 N287S probably damaging Het
Ttc9 G A 12: 81,631,762 V120I possibly damaging Het
Umps A G 16: 33,966,902 V27A probably damaging Het
Usp50 C A 2: 126,709,414 M48I probably damaging Het
Vmn1r76 A T 7: 11,930,382 C267S possibly damaging Het
Wee1 A T 7: 110,125,848 D275V possibly damaging Het
Zmym6 C T 4: 127,088,359 P63L probably benign Het
Other mutations in Fbln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Fbln1 APN 15 85227037 missense probably benign 0.00
IGL02514:Fbln1 APN 15 85244262 nonsense probably null
IGL02693:Fbln1 APN 15 85229574 missense probably benign 0.00
IGL02734:Fbln1 APN 15 85226981 missense probably damaging 1.00
IGL02964:Fbln1 APN 15 85231462 missense probably damaging 1.00
IGL03176:Fbln1 APN 15 85244306 missense possibly damaging 0.69
IGL03274:Fbln1 APN 15 85232678 critical splice donor site probably null
R0090:Fbln1 UTSW 15 85224288 missense possibly damaging 0.94
R0148:Fbln1 UTSW 15 85230826 missense probably damaging 0.97
R0393:Fbln1 UTSW 15 85227076 missense probably damaging 0.99
R0564:Fbln1 UTSW 15 85227107 missense probably benign 0.07
R1276:Fbln1 UTSW 15 85229590 missense probably damaging 1.00
R1592:Fbln1 UTSW 15 85231464 missense probably benign 0.00
R1687:Fbln1 UTSW 15 85227106 missense probably benign 0.02
R2312:Fbln1 UTSW 15 85263348 missense probably benign 0.28
R2363:Fbln1 UTSW 15 85227140 critical splice donor site probably null
R3082:Fbln1 UTSW 15 85265253 missense probably benign 0.25
R3083:Fbln1 UTSW 15 85265253 missense probably benign 0.25
R3751:Fbln1 UTSW 15 85227078 nonsense probably null
R3752:Fbln1 UTSW 15 85227078 nonsense probably null
R3753:Fbln1 UTSW 15 85227078 nonsense probably null
R4028:Fbln1 UTSW 15 85227116 missense probably benign 0.05
R4406:Fbln1 UTSW 15 85231556 critical splice donor site probably null
R4407:Fbln1 UTSW 15 85231556 critical splice donor site probably null
R4408:Fbln1 UTSW 15 85231556 critical splice donor site probably null
R4612:Fbln1 UTSW 15 85238559 missense probably benign 0.00
R4811:Fbln1 UTSW 15 85226966 critical splice acceptor site probably null
R5022:Fbln1 UTSW 15 85237626 missense probably damaging 0.99
R5121:Fbln1 UTSW 15 85237671 missense probably damaging 1.00
R7231:Fbln1 UTSW 15 85206152 missense unknown
R7285:Fbln1 UTSW 15 85237628 missense probably benign 0.01
R7492:Fbln1 UTSW 15 85227061 missense probably damaging 1.00
R7742:Fbln1 UTSW 15 85240716 missense probably damaging 1.00
Posted On2013-06-28