Incidental Mutation 'R4356:Fnbp4'
ID 327532
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 041669-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R4356 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90588683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 485 (S485P)
Ref Sequence ENSEMBL: ENSMUSP00000013759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000013759
AA Change: S485P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: S485P

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: ENSMUST00000126829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152794
Meta Mutation Damage Score 0.1671 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,701 (GRCm39) Y132N probably damaging Het
Adam21 T C 12: 81,605,594 (GRCm39) T723A probably damaging Het
Alox5 C T 6: 116,397,219 (GRCm39) V322I probably benign Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ankhd1 A T 18: 36,776,096 (GRCm39) K1482* probably null Het
Cacna1e A C 1: 154,319,727 (GRCm39) D1324E probably damaging Het
Ccdc150 A G 1: 54,392,213 (GRCm39) D657G probably damaging Het
Celsr1 A G 15: 85,863,028 (GRCm39) S1335P probably damaging Het
Cfhr4 T A 1: 139,660,048 (GRCm39) K621N probably damaging Het
Cspg5 A G 9: 110,085,245 (GRCm39) D391G probably damaging Het
Defa30 A T 8: 21,624,821 (GRCm39) D48V possibly damaging Het
E2f7 T C 10: 110,595,712 (GRCm39) Y136H probably damaging Het
Fam3d A G 14: 8,349,314 (GRCm38) L212P probably damaging Het
Fbxw25 A T 9: 109,491,153 (GRCm39) C122S probably damaging Het
Fgg A T 3: 82,920,250 (GRCm39) D343V probably damaging Het
Flnb T A 14: 7,922,700 (GRCm38) M1712K probably benign Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
Gast C A 11: 100,227,373 (GRCm39) S22Y probably damaging Het
Gm20834 T A Y: 10,322,962 (GRCm39) H158L possibly damaging Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Impg2 C T 16: 56,080,527 (GRCm39) T777I probably damaging Het
Kif11 C A 19: 37,399,883 (GRCm39) T790K probably benign Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Nectin1 A G 9: 43,703,802 (GRCm39) D264G probably benign Het
Nipsnap3a T C 4: 52,995,979 (GRCm39) probably null Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or5w14 G A 2: 87,542,229 (GRCm39) S7F possibly damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcdhga4 C T 18: 37,820,664 (GRCm39) H738Y probably damaging Het
Prickle2 A T 6: 92,388,490 (GRCm39) I304K probably damaging Het
Ptprq A T 10: 107,444,225 (GRCm39) Y1460N probably damaging Het
Rbl2 A G 8: 91,833,735 (GRCm39) D812G probably damaging Het
Rbm19 A G 5: 120,278,427 (GRCm39) T737A possibly damaging Het
Rbsn G A 6: 92,184,029 (GRCm39) L95F possibly damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scfd1 T A 12: 51,486,068 (GRCm39) N541K probably benign Het
Scube3 G A 17: 28,383,283 (GRCm39) G442S probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcc1 A G 9: 110,025,324 (GRCm39) D667G probably damaging Het
Sned1 A T 1: 93,193,113 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sun3 A G 11: 8,966,328 (GRCm39) V231A probably damaging Het
Vmn2r106 A T 17: 20,499,910 (GRCm39) D108E probably benign Het
Xdh A G 17: 74,222,685 (GRCm39) V560A probably benign Het
Zfp352 T A 4: 90,112,071 (GRCm39) H70Q possibly damaging Het
Zfp40 C A 17: 23,396,164 (GRCm39) C73F probably benign Het
Zfp975 A C 7: 42,311,251 (GRCm39) L454R probably damaging Het
Zik1 A T 7: 10,224,268 (GRCm39) C276* probably null Het
Other mutations in Fnbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Fnbp4 APN 2 90,581,966 (GRCm39) splice site probably benign
IGL00731:Fnbp4 APN 2 90,598,987 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- CACAGAGCATAATGTTGAGTTGTG -3'
(R):5'- TAATGGGGATCCCTTGCTTGC -3'

Sequencing Primer
(F):5'- TAATGTTGAGTTGTGAAGGAAACTG -3'
(R):5'- AGGAAGCACAAATTACCAGTTTCTC -3'
Posted On 2015-07-07