Incidental Mutation 'IGL00731:Fnbp4'
ID 10792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # IGL00731
Quality Score
Status
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90598987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 704 (V704L)
Ref Sequence ENSEMBL: ENSMUSP00000013759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000013759
AA Change: V704L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: V704L

DomainStartEndE-ValueType
low complexity region 65 140 N/A INTRINSIC
low complexity region 165 175 N/A INTRINSIC
low complexity region 204 235 N/A INTRINSIC
WW 265 298 3.58e-5 SMART
low complexity region 372 381 N/A INTRINSIC
low complexity region 386 393 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
coiled coil region 442 478 N/A INTRINSIC
low complexity region 515 533 N/A INTRINSIC
WW 650 683 1.77e-9 SMART
low complexity region 757 788 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
low complexity region 955 1002 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152794
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Gbp7 T C 3: 142,252,189 (GRCm39) S591P probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Klk1b21 A G 7: 43,755,347 (GRCm39) E182G possibly damaging Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Npnt C T 3: 132,610,418 (GRCm39) probably null Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rasal2 A C 1: 156,985,334 (GRCm39) D804E probably benign Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Spink12 G A 18: 44,241,177 (GRCm39) probably benign Het
Other mutations in Fnbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Fnbp4 APN 2 90,581,966 (GRCm39) splice site probably benign
IGL01021:Fnbp4 APN 2 90,608,013 (GRCm39) missense probably benign 0.06
IGL01097:Fnbp4 APN 2 90,606,694 (GRCm39) missense possibly damaging 0.63
IGL02504:Fnbp4 APN 2 90,598,887 (GRCm39) missense probably damaging 1.00
IGL02510:Fnbp4 APN 2 90,581,819 (GRCm39) missense probably benign
IGL02673:Fnbp4 APN 2 90,593,816 (GRCm39) missense probably benign 0.01
IGL03024:Fnbp4 APN 2 90,581,523 (GRCm39) missense probably benign 0.11
IGL03221:Fnbp4 APN 2 90,608,062 (GRCm39) missense possibly damaging 0.65
R0570:Fnbp4 UTSW 2 90,583,301 (GRCm39) missense probably damaging 1.00
R1914:Fnbp4 UTSW 2 90,609,537 (GRCm39) unclassified probably benign
R1925:Fnbp4 UTSW 2 90,596,187 (GRCm39) missense probably damaging 1.00
R2051:Fnbp4 UTSW 2 90,587,876 (GRCm39) missense probably benign 0.05
R2069:Fnbp4 UTSW 2 90,588,716 (GRCm39) missense probably damaging 1.00
R2165:Fnbp4 UTSW 2 90,597,743 (GRCm39) splice site probably null
R2262:Fnbp4 UTSW 2 90,587,748 (GRCm39) missense probably damaging 1.00
R3836:Fnbp4 UTSW 2 90,577,129 (GRCm39) missense probably damaging 1.00
R4077:Fnbp4 UTSW 2 90,588,821 (GRCm39) nonsense probably null
R4356:Fnbp4 UTSW 2 90,588,683 (GRCm39) missense probably damaging 1.00
R4401:Fnbp4 UTSW 2 90,577,102 (GRCm39) missense possibly damaging 0.62
R4491:Fnbp4 UTSW 2 90,583,312 (GRCm39) critical splice donor site probably null
R4914:Fnbp4 UTSW 2 90,581,513 (GRCm39) missense probably benign 0.00
R4981:Fnbp4 UTSW 2 90,596,174 (GRCm39) missense probably damaging 1.00
R5165:Fnbp4 UTSW 2 90,608,001 (GRCm39) missense possibly damaging 0.65
R5272:Fnbp4 UTSW 2 90,583,459 (GRCm39) missense probably benign
R5683:Fnbp4 UTSW 2 90,583,206 (GRCm39) missense probably damaging 1.00
R5860:Fnbp4 UTSW 2 90,587,826 (GRCm39) missense probably benign 0.00
R5905:Fnbp4 UTSW 2 90,581,478 (GRCm39) missense probably benign 0.29
R5914:Fnbp4 UTSW 2 90,605,137 (GRCm39) intron probably benign
R6028:Fnbp4 UTSW 2 90,581,478 (GRCm39) missense probably benign 0.29
R6270:Fnbp4 UTSW 2 90,587,807 (GRCm39) missense probably damaging 1.00
R6379:Fnbp4 UTSW 2 90,581,468 (GRCm39) missense probably benign 0.41
R6389:Fnbp4 UTSW 2 90,575,879 (GRCm39) missense unknown
R6883:Fnbp4 UTSW 2 90,576,172 (GRCm39) critical splice donor site probably null
R6940:Fnbp4 UTSW 2 90,575,858 (GRCm39) missense unknown
R7242:Fnbp4 UTSW 2 90,576,140 (GRCm39) missense unknown
R7393:Fnbp4 UTSW 2 90,609,660 (GRCm39) missense probably damaging 0.99
R7454:Fnbp4 UTSW 2 90,608,159 (GRCm39) unclassified probably benign
R7455:Fnbp4 UTSW 2 90,608,159 (GRCm39) unclassified probably benign
R8051:Fnbp4 UTSW 2 90,608,083 (GRCm39) missense possibly damaging 0.77
R8283:Fnbp4 UTSW 2 90,577,115 (GRCm39) missense probably damaging 0.98
R8724:Fnbp4 UTSW 2 90,577,097 (GRCm39) missense probably damaging 1.00
R8845:Fnbp4 UTSW 2 90,606,368 (GRCm39) missense probably benign
R9103:Fnbp4 UTSW 2 90,608,187 (GRCm39) missense probably benign
R9140:Fnbp4 UTSW 2 90,576,077 (GRCm39) missense unknown
R9617:Fnbp4 UTSW 2 90,588,738 (GRCm39) missense probably benign 0.28
Posted On 2012-12-06