Incidental Mutation 'R5165:Fnbp4'
ID 395634
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 90608001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 908 (Q908E)
Ref Sequence ENSEMBL: ENSMUSP00000013759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000013759
AA Change: Q908E

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: Q908E

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: ENSMUST00000123955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141672
Meta Mutation Damage Score 0.1005 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* 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
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
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'- AAGCTACCCTTAAACATTTGCATG -3'
(R):5'- GAAGAAGACTCACCTTATCTTTCTTCC -3'

Sequencing Primer
(F):5'- TAACAGAGCCTTGGCTGTC -3'
(R):5'- TCTCGTCTTCTCGGGCGG -3'
Posted On 2016-06-21