Incidental Mutation 'R4406:Fbln1'
ID 327676
Institutional Source Beutler Lab
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Name fibulin 1
Synonyms
MMRRC Submission 041688-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R4406 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 85090150-85170495 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 85115757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]
AlphaFold Q08879
Predicted Effect probably null
Transcript: ENSMUST00000057410
SMART Domains Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369

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
SMART Domains Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369

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 0.9487 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,171,275 (GRCm39) L1170F probably benign Het
Acss3 A T 10: 106,889,198 (GRCm39) D207E probably damaging Het
Adgrl1 T C 8: 84,656,671 (GRCm39) S325P probably damaging Het
Ankrd37 A G 8: 46,450,131 (GRCm39) probably benign Het
Atp13a2 C T 4: 140,733,787 (GRCm39) P1059S probably damaging Het
Camkv T C 9: 107,823,418 (GRCm39) probably null Het
Ces1f T C 8: 93,989,950 (GRCm39) T387A probably benign Het
Dmxl1 T A 18: 50,022,620 (GRCm39) L1653I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat2 G A 11: 55,153,094 (GRCm39) A3706V probably benign Het
Gm1527 G A 3: 28,949,874 (GRCm39) V45M possibly damaging Het
Gm5084 A G 13: 60,360,380 (GRCm39) noncoding transcript Het
Itpr1 T A 6: 108,331,624 (GRCm39) H194Q probably damaging Het
Kif24 A T 4: 41,393,954 (GRCm39) L973Q probably damaging Het
Lrfn4 T C 19: 4,663,299 (GRCm39) T412A probably benign Het
Ly75 T C 2: 60,184,894 (GRCm39) E420G probably damaging Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Mib1 A C 18: 10,763,289 (GRCm39) K446N probably damaging Het
Mrpl4 T C 9: 20,918,231 (GRCm39) W146R probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Nomo1 A G 7: 45,706,092 (GRCm39) N482S probably benign Het
Or2y1 G A 11: 49,385,744 (GRCm39) R128H probably benign Het
Or5b105 A G 19: 13,079,958 (GRCm39) S237P possibly damaging Het
Or5b96 A T 19: 12,867,598 (GRCm39) Y114* probably null Het
Or8g21 T C 9: 38,905,865 (GRCm39) I289V possibly damaging Het
Or9s15 T A 1: 92,525,036 (GRCm39) M265K possibly damaging Het
Osbpl10 C T 9: 114,938,549 (GRCm39) H70Y probably damaging Het
Pdilt A C 7: 119,094,232 (GRCm39) S340A probably damaging Het
Ppan C A 9: 20,802,288 (GRCm39) D226E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sema3g G A 14: 30,950,116 (GRCm39) V766M probably benign Het
Skint6 T A 4: 113,013,683 (GRCm39) N356I probably benign Het
Slco2b1 A T 7: 99,314,096 (GRCm39) S496T probably benign Het
Trak1 T C 9: 121,260,602 (GRCm39) V11A probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Umod G A 7: 119,065,287 (GRCm39) P581S probably damaging Het
Zfat A G 15: 68,052,040 (GRCm39) S585P probably benign Het
Zfp472 C A 17: 33,197,134 (GRCm39) T403N probably benign Het
Zfp936 A G 7: 42,839,748 (GRCm39) Q405R 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
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
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'- GCTGGTTACTTCTGCATCGC -3'
(R):5'- CAAATGGGCTAGTGTCACTAAC -3'

Sequencing Primer
(F):5'- CGCCTTAATCTCTCTAGATATCAATG -3'
(R):5'- ATGGGCTAGTGTCACTAACTCAGC -3'
Posted On 2015-07-07