Incidental Mutation 'IGL00731:Fnbp4'
ID10792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Nameformin binding protein 4
SynonymsFBP30
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL00731
Quality Score
Status
Chromosome2
Chromosomal Location90745370-90781021 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 90768643 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 704 (V704L)
Ref Sequence ENSEMBL: ENSMUSP00000013759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759]
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
Aars A G 8: 111,044,869 probably benign Het
Adcy10 T C 1: 165,572,614 F1531L probably benign Het
Dab2 T C 15: 6,435,710 S463P possibly damaging Het
Ehf C T 2: 103,266,840 probably null Het
Gbp7 T C 3: 142,546,428 S591P probably benign Het
Gpr155 A G 2: 73,362,613 L498P probably damaging Het
Igll1 T C 16: 16,860,919 T176A probably benign Het
Klk1b21 A G 7: 44,105,923 E182G possibly damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Npat G A 9: 53,562,086 E393K probably damaging Het
Npnt C T 3: 132,904,657 probably null Het
Pde2a A G 7: 101,508,099 Y693C probably benign Het
Ralgapa1 A G 12: 55,702,452 S1269P possibly damaging Het
Rasal2 A C 1: 157,157,764 D804E probably benign Het
Rdh10 A G 1: 16,107,875 N124D probably benign Het
Slit3 G T 11: 35,622,154 D536Y probably damaging Het
Snx24 C T 18: 53,384,609 probably benign Het
Spink12 G A 18: 44,108,110 probably benign Het
Other mutations in Fnbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Fnbp4 APN 2 90751622 splice site probably benign
IGL01021:Fnbp4 APN 2 90777669 missense probably benign 0.06
IGL01097:Fnbp4 APN 2 90776350 missense possibly damaging 0.63
IGL02504:Fnbp4 APN 2 90768543 missense probably damaging 1.00
IGL02510:Fnbp4 APN 2 90751475 missense probably benign
IGL02673:Fnbp4 APN 2 90763472 missense probably benign 0.01
IGL03024:Fnbp4 APN 2 90751179 missense probably benign 0.11
IGL03221:Fnbp4 APN 2 90777718 missense possibly damaging 0.65
R0570:Fnbp4 UTSW 2 90752957 missense probably damaging 1.00
R1914:Fnbp4 UTSW 2 90779193 unclassified probably benign
R1925:Fnbp4 UTSW 2 90765843 missense probably damaging 1.00
R2051:Fnbp4 UTSW 2 90757532 missense probably benign 0.05
R2069:Fnbp4 UTSW 2 90758372 missense probably damaging 1.00
R2165:Fnbp4 UTSW 2 90767399 splice site probably null
R2262:Fnbp4 UTSW 2 90757404 missense probably damaging 1.00
R3836:Fnbp4 UTSW 2 90746785 missense probably damaging 1.00
R4077:Fnbp4 UTSW 2 90758477 nonsense probably null
R4356:Fnbp4 UTSW 2 90758339 missense probably damaging 1.00
R4401:Fnbp4 UTSW 2 90746758 missense possibly damaging 0.62
R4491:Fnbp4 UTSW 2 90752968 critical splice donor site probably null
R4914:Fnbp4 UTSW 2 90751169 missense probably benign 0.00
R4981:Fnbp4 UTSW 2 90765830 missense probably damaging 1.00
R5165:Fnbp4 UTSW 2 90777657 missense possibly damaging 0.65
R5272:Fnbp4 UTSW 2 90753115 missense probably benign
R5683:Fnbp4 UTSW 2 90752862 missense probably damaging 1.00
R5860:Fnbp4 UTSW 2 90757482 missense probably benign 0.00
R5905:Fnbp4 UTSW 2 90751134 missense probably benign 0.29
R5914:Fnbp4 UTSW 2 90774793 intron probably benign
R6028:Fnbp4 UTSW 2 90751134 missense probably benign 0.29
R6270:Fnbp4 UTSW 2 90757463 missense probably damaging 1.00
R6379:Fnbp4 UTSW 2 90751124 missense probably benign 0.41
R6389:Fnbp4 UTSW 2 90745535 missense unknown
R6883:Fnbp4 UTSW 2 90745828 critical splice donor site probably null
R6940:Fnbp4 UTSW 2 90745514 missense unknown
R7242:Fnbp4 UTSW 2 90745796 missense unknown
R7393:Fnbp4 UTSW 2 90779316 missense probably damaging 0.99
R7454:Fnbp4 UTSW 2 90777815 unclassified probably benign
R7455:Fnbp4 UTSW 2 90777815 unclassified probably benign
R8051:Fnbp4 UTSW 2 90777739 missense possibly damaging 0.77
R8283:Fnbp4 UTSW 2 90746771 missense probably damaging 0.98
Posted On2012-12-06