Incidental Mutation 'R3751:Fbln1'
ID 271229
Institutional Source Beutler Lab
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Name fibulin 1
Synonyms
MMRRC Submission 040736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R3751 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 85090150-85170495 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 85111279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 144 (C144*)
Ref Sequence ENSEMBL: ENSMUSP00000105058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]
AlphaFold Q08879
Predicted Effect probably null
Transcript: ENSMUST00000057410
AA Change: C144*
SMART Domains Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: C144*

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 null
Transcript: ENSMUST00000109432
AA Change: C144*
SMART Domains Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: C144*

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
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 93% (43/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G T 7: 12,289,973 (GRCm39) R183I probably benign Het
BC016579 A T 16: 45,453,361 (GRCm39) probably null Het
BC051665 A T 13: 60,931,145 (GRCm39) F258I probably damaging Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Ccdc125 A G 13: 100,814,459 (GRCm39) D13G possibly damaging Het
Ceacam18 T A 7: 43,291,372 (GRCm39) H271Q probably damaging Het
Cep104 A G 4: 154,066,213 (GRCm39) Y137C probably damaging Het
Clca3a1 A G 3: 144,724,424 (GRCm39) V212A probably benign Het
Clca3a2 A T 3: 144,777,216 (GRCm39) M885K probably benign Het
Col6a4 G T 9: 105,949,313 (GRCm39) T774N probably damaging Het
D430041D05Rik T C 2: 104,085,403 (GRCm39) T1049A possibly damaging Het
Dlk1 A G 12: 109,426,239 (GRCm39) I276V probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Efcab9 T C 11: 32,477,420 (GRCm39) H34R probably benign Het
Erc1 T A 6: 119,801,921 (GRCm39) H32L probably damaging Het
Ezh2 T C 6: 47,532,998 (GRCm39) I141M possibly damaging Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Itpr1 T A 6: 108,326,641 (GRCm39) I121N probably damaging Het
Krtap17-1 A T 11: 99,884,481 (GRCm39) C95* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Man2c1 A G 9: 57,048,058 (GRCm39) Y748C probably damaging Het
Map4 A G 9: 109,867,742 (GRCm39) probably benign Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Mtmr9 A G 14: 63,780,997 (GRCm39) L31P probably damaging Het
Myo5c A G 9: 75,183,284 (GRCm39) Q886R probably damaging Het
Nhsl3 A G 4: 129,118,115 (GRCm39) probably benign Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or6c38 T A 10: 128,929,175 (GRCm39) I223F probably damaging Het
Or7h8 C T 9: 20,124,556 (GRCm39) L304F probably damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pdgfd A T 9: 6,337,447 (GRCm39) probably benign Het
Ppm1k T G 6: 57,501,845 (GRCm39) E106A probably benign Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Rnf214 A C 9: 45,778,901 (GRCm39) I581S probably damaging Het
Scaf11 A G 15: 96,316,417 (GRCm39) V1049A probably damaging Het
Slc51a A G 16: 32,295,292 (GRCm39) L262P probably benign Het
Slc6a21 G A 7: 44,929,928 (GRCm39) V139I probably benign Het
Slc8a3 G T 12: 81,250,912 (GRCm39) L684M probably damaging Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Tnks1bp1 C T 2: 84,889,066 (GRCm39) probably benign Het
Vmn1r189 T C 13: 22,286,382 (GRCm39) T152A probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp366 A G 13: 99,365,352 (GRCm39) Y171C probably 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
IGL02693:Fbln1 APN 15 85,113,775 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTCTGTTCTGAGAACACCG -3'
(R):5'- TTGGTAGAATCCAGAAATGTGACAC -3'

Sequencing Primer
(F):5'- TCTCTGTTCTGAGAACACCGACAAG -3'
(R):5'- CCCACAGGAAGGGTAAGTCAC -3'
Posted On 2015-03-18