Incidental Mutation 'R2312:Fbln1'
ID 247368
Institutional Source Beutler Lab
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Name fibulin 1
Synonyms
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 85090150-85170495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85147549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 598 (V598A)
Ref Sequence ENSEMBL: ENSMUSP00000054583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057410]
AlphaFold Q08879
Predicted Effect probably benign
Transcript: ENSMUST00000057410
AA Change: V598A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: V598A

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 noncoding transcript
Transcript: ENSMUST00000160798
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
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
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E 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
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
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
Predicted Primers PCR Primer
(F):5'- TACAGTTTAGCCTGGCCAC -3'
(R):5'- AAGATGTGCATCCTACCCCG -3'

Sequencing Primer
(F):5'- TAGGTGCTGATAGAAGTGCCCC -3'
(R):5'- GTGCATCCTACCCCGACCAC -3'
Posted On 2014-11-11