Incidental Mutation 'IGL02161:Fbln7'
ID 282476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln7
Ensembl Gene ENSMUSG00000027386
Gene Name fibulin 7
Synonyms 1600015H20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02161
Quality Score
Status
Chromosome 2
Chromosomal Location 128705791-128738954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128731711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 166 (K166I)
Ref Sequence ENSEMBL: ENSMUSP00000105953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028864] [ENSMUST00000110324]
AlphaFold Q501P1
Predicted Effect probably benign
Transcript: ENSMUST00000028864
AA Change: K166I

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: K166I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
CCP 81 134 7.5e-15 SMART
EGF_CA 136 172 1.46e-7 SMART
low complexity region 177 189 N/A INTRINSIC
EGF_CA 225 270 2.08e-12 SMART
EGF 274 320 1.95e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110324
AA Change: K166I

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: K166I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
CCP 81 134 7.5e-15 SMART
EGF_CA 136 172 1.46e-7 SMART
low complexity region 177 189 N/A INTRINSIC
EGF_CA 225 270 2.08e-12 SMART
EGF 274 320 1.95e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,838,490 (GRCm39) V1024D probably benign Het
Alox5 T A 6: 116,400,154 (GRCm39) M262L probably benign Het
Arid5b T C 10: 67,932,498 (GRCm39) T1135A probably benign Het
Ascc3 T A 10: 50,726,623 (GRCm39) Y2177* probably null Het
Birc6 A C 17: 74,855,832 (GRCm39) H214P probably damaging Het
Catsperb T A 12: 101,375,674 (GRCm39) probably benign Het
Ccr1l1 G A 9: 123,778,000 (GRCm39) T149I possibly damaging Het
Cfap57 T G 4: 118,436,569 (GRCm39) R942S possibly damaging Het
Crocc G A 4: 140,761,302 (GRCm39) A941V probably benign Het
Csde1 A G 3: 102,957,654 (GRCm39) Q471R probably damaging Het
Csmd1 C T 8: 16,408,426 (GRCm39) V380I probably damaging Het
Dhx8 A T 11: 101,648,432 (GRCm39) Q857L probably damaging Het
Eftud2 A G 11: 102,745,702 (GRCm39) probably benign Het
Fat3 C A 9: 15,908,346 (GRCm39) R2552I probably benign Het
Fat3 T A 9: 15,908,347 (GRCm39) R2552* probably null Het
Glrx2 C T 1: 143,615,421 (GRCm39) S8L possibly damaging Het
Grin2d T G 7: 45,503,846 (GRCm39) I630L possibly damaging Het
Gsap T A 5: 21,458,377 (GRCm39) W423R probably damaging Het
Kifc2 A G 15: 76,550,245 (GRCm39) E468G probably damaging Het
Kpnb1 A G 11: 97,059,762 (GRCm39) S566P probably benign Het
Lemd2 A G 17: 27,409,625 (GRCm39) S509P probably damaging Het
Lepr T C 4: 101,602,875 (GRCm39) F221S probably damaging Het
Nynrin T C 14: 56,101,441 (GRCm39) F370S probably damaging Het
Or51a10 C A 7: 103,698,797 (GRCm39) V255L possibly damaging Het
Pcdhb15 T A 18: 37,608,555 (GRCm39) S596T possibly damaging Het
Prkcq G T 2: 11,281,887 (GRCm39) S472I probably benign Het
Rabgef1 T C 5: 130,235,940 (GRCm39) probably benign Het
Rnd3 C T 2: 51,024,088 (GRCm39) V164M probably benign Het
Rtn4rl1 G A 11: 75,156,666 (GRCm39) R366Q probably damaging Het
Sesn2 A T 4: 132,224,229 (GRCm39) I393N probably damaging Het
St8sia2 T C 7: 73,626,430 (GRCm39) N46S probably benign Het
Svopl A G 6: 38,013,750 (GRCm39) probably benign Het
Tbr1 C T 2: 61,635,583 (GRCm39) Q178* probably null Het
Vax2 T C 6: 83,714,885 (GRCm39) S267P probably damaging Het
Vmn1r47 T A 6: 89,999,298 (GRCm39) Y143* probably null Het
Vmn2r28 A G 7: 5,491,123 (GRCm39) S375P possibly damaging Het
Vmn2r44 A T 7: 8,380,814 (GRCm39) Y360N possibly damaging Het
Zc3h6 G A 2: 128,835,146 (GRCm39) S94N possibly damaging Het
Other mutations in Fbln7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Fbln7 APN 2 128,735,771 (GRCm39) missense possibly damaging 0.93
IGL02383:Fbln7 APN 2 128,737,477 (GRCm39) missense probably benign 0.00
IGL03273:Fbln7 APN 2 128,737,390 (GRCm39) missense probably benign 0.00
R0463:Fbln7 UTSW 2 128,719,431 (GRCm39) missense probably benign 0.06
R0541:Fbln7 UTSW 2 128,719,454 (GRCm39) splice site probably benign
R1036:Fbln7 UTSW 2 128,735,815 (GRCm39) missense possibly damaging 0.84
R1381:Fbln7 UTSW 2 128,719,299 (GRCm39) missense probably damaging 1.00
R1466:Fbln7 UTSW 2 128,719,349 (GRCm39) missense probably benign 0.00
R1466:Fbln7 UTSW 2 128,719,349 (GRCm39) missense probably benign 0.00
R1584:Fbln7 UTSW 2 128,719,349 (GRCm39) missense probably benign 0.00
R1769:Fbln7 UTSW 2 128,735,682 (GRCm39) splice site probably benign
R1855:Fbln7 UTSW 2 128,735,755 (GRCm39) missense possibly damaging 0.65
R2065:Fbln7 UTSW 2 128,719,386 (GRCm39) missense probably damaging 0.99
R2066:Fbln7 UTSW 2 128,719,386 (GRCm39) missense probably damaging 0.99
R2067:Fbln7 UTSW 2 128,719,386 (GRCm39) missense probably damaging 0.99
R4666:Fbln7 UTSW 2 128,736,830 (GRCm39) splice site probably null
R4679:Fbln7 UTSW 2 128,736,806 (GRCm39) missense probably damaging 1.00
R4694:Fbln7 UTSW 2 128,722,345 (GRCm39) splice site probably null
R5933:Fbln7 UTSW 2 128,719,418 (GRCm39) missense probably benign
R6211:Fbln7 UTSW 2 128,737,260 (GRCm39) missense probably damaging 1.00
R6606:Fbln7 UTSW 2 128,719,296 (GRCm39) missense possibly damaging 0.71
R7519:Fbln7 UTSW 2 128,735,785 (GRCm39) missense probably benign 0.00
R9205:Fbln7 UTSW 2 128,737,168 (GRCm39) missense probably null 1.00
R9208:Fbln7 UTSW 2 128,737,343 (GRCm39) missense probably damaging 1.00
R9645:Fbln7 UTSW 2 128,719,316 (GRCm39) missense probably damaging 1.00
R9717:Fbln7 UTSW 2 128,719,314 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16