Incidental Mutation 'R3752:Fbln1'
ID 271275
Institutional Source Beutler Lab
Gene Symbol Fbln1
Ensembl Gene ENSMUSG00000006369
Gene Name fibulin 1
Synonyms
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R3752 (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: 94.8%
Validation Efficiency 100% (49/49)
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
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mei1 C T 15: 81,970,383 (GRCm39) T428M probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Or6a2 A T 7: 106,600,682 (GRCm39) Y128* probably null Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Snx1 A T 9: 66,012,933 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Vps35 A G 8: 86,001,460 (GRCm39) S453P probably benign Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A probably benign 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
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'- GTTCTTTCGAGGTCCCAAGG -3'
(R):5'- AGTACTTTACCCACTGAGCCATC -3'

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