Incidental Mutation 'R2069:Fnbp4'
ID 226910
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 040074-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R2069 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 90588716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 496 (S496A)
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: S496A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: S496A

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 0.0720 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (104/104)
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,012,341 (GRCm39) V86A probably benign Het
Abcc3 A T 11: 94,255,243 (GRCm39) I601N probably damaging Het
Abl2 T A 1: 156,448,397 (GRCm39) probably null Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ahi1 C T 10: 20,835,895 (GRCm39) T76I probably damaging Het
Arhgap42 C T 9: 9,035,601 (GRCm39) G247D probably damaging Het
Arid2 C T 15: 96,260,471 (GRCm39) L407F probably damaging Het
Atp13a1 T C 8: 70,252,423 (GRCm39) F606L probably benign Het
Avl9 T A 6: 56,713,420 (GRCm39) probably benign Het
B3glct C T 5: 149,632,845 (GRCm39) A65V probably damaging Het
Bcorl1 T C X: 47,490,794 (GRCm39) probably benign Het
Bdp1 T C 13: 100,187,496 (GRCm39) T1624A probably benign Het
Bmp15 A G X: 6,228,075 (GRCm39) M263T probably benign Het
Brd8 T C 18: 34,747,532 (GRCm39) K110E probably damaging Het
Cachd1 A G 4: 100,848,041 (GRCm39) D1052G probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Ccdc113 G A 8: 96,283,924 (GRCm39) E333K probably benign Het
Ccnl2 A T 4: 155,896,938 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,429 (GRCm39) F37S probably benign Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Ceacam10 A T 7: 24,477,797 (GRCm39) N104I probably damaging Het
Cenpk T A 13: 104,372,684 (GRCm39) probably benign Het
Cfi A G 3: 129,652,453 (GRCm39) probably null Het
Chd1 T C 17: 15,962,556 (GRCm39) F771S probably damaging Het
Chil4 G A 3: 106,126,771 (GRCm39) L4F probably benign Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Coq8b A G 7: 26,956,802 (GRCm39) E485G probably damaging Het
Cse1l A G 2: 166,783,412 (GRCm39) S733G probably benign Het
Dnah5 G A 15: 28,312,534 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,566 (GRCm39) V156A probably damaging Het
Duox1 A T 2: 122,163,543 (GRCm39) T792S probably benign Het
Duox2 T C 2: 122,117,589 (GRCm39) D915G probably benign Het
Efcab5 A T 11: 77,063,147 (GRCm39) M115K probably benign Het
Eif2s1 G A 12: 78,923,959 (GRCm39) D139N probably benign Het
Erg A G 16: 95,161,937 (GRCm39) F390L probably damaging Het
Fam193b A T 13: 55,690,811 (GRCm39) S650R probably damaging Het
Fbp2 T A 13: 63,001,875 (GRCm39) K113N possibly damaging Het
Gab3 C A X: 74,043,701 (GRCm39) R475L probably damaging Het
Gsap T C 5: 21,431,837 (GRCm39) probably benign Het
Gucy1a2 C T 9: 3,582,697 (GRCm39) L160F probably damaging Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Insc G T 7: 114,403,828 (GRCm39) probably null Het
Jph2 A G 2: 163,181,605 (GRCm39) S520P possibly damaging Het
Kidins220 T A 12: 25,037,005 (GRCm39) probably benign Het
Krtap29-1 A G 11: 99,869,438 (GRCm39) S148P probably damaging Het
Ltbp2 A C 12: 84,840,507 (GRCm39) C1000G probably damaging Het
Map2k3 T C 11: 60,840,853 (GRCm39) F294S probably damaging Het
Map4k2 C A 19: 6,392,768 (GRCm39) probably benign Het
Mboat2 T C 12: 25,001,442 (GRCm39) V281A probably benign Het
Mdga2 G A 12: 66,615,691 (GRCm39) R570* probably null Het
Mlxipl A G 5: 135,135,859 (GRCm39) D28G probably damaging Het
Morc2b T C 17: 33,355,734 (GRCm39) I679M probably benign Het
Myh4 T C 11: 67,137,192 (GRCm39) probably benign Het
Nfib A C 4: 82,416,852 (GRCm39) L61R probably damaging Het
Noc2l C A 4: 156,325,907 (GRCm39) Y227* probably null Het
Nrde2 A G 12: 100,108,491 (GRCm39) S367P probably damaging Het
Nup93 C A 8: 94,970,367 (GRCm39) P89T probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or10a2 A T 7: 106,673,826 (GRCm39) K264* probably null Het
Or11h4 T A 14: 50,974,033 (GRCm39) E195D possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k77 A G 2: 111,199,440 (GRCm39) I154M probably benign Het
Or6b9 A T 7: 106,555,494 (GRCm39) Y216* probably null Het
Or9r7 A G 10: 129,962,074 (GRCm39) I284T possibly damaging Het
Oxct1 G T 15: 4,122,007 (GRCm39) A319S probably null Het
P2ry10 A G X: 106,146,859 (GRCm39) S265G probably benign Het
Peak1 A T 9: 56,166,043 (GRCm39) N628K probably damaging Het
Pkdrej T A 15: 85,705,432 (GRCm39) Q168L probably benign Het
Plaat5 T C 19: 7,590,003 (GRCm39) S10P possibly damaging Het
Plec A G 15: 76,073,126 (GRCm39) M604T probably benign Het
Pmfbp1 A T 8: 110,258,735 (GRCm39) N680I possibly damaging Het
Pnma8b T C 7: 16,679,714 (GRCm39) W233R probably damaging Het
Pxn A G 5: 115,683,726 (GRCm39) N186S probably benign Het
Rsad1 A C 11: 94,439,951 (GRCm39) probably benign Het
Runx2 A G 17: 45,046,229 (GRCm39) I112T probably benign Het
S1pr2 A T 9: 20,878,790 (GRCm39) L346Q probably damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Slc36a4 T A 9: 15,638,276 (GRCm39) F234Y probably damaging Het
Slitrk2 T A X: 65,698,235 (GRCm39) V242D probably damaging Het
Sp100 A G 1: 85,608,863 (GRCm39) probably null Het
Spryd3 A C 15: 102,026,616 (GRCm39) L352V probably benign Het
Ssc4d A C 5: 135,999,171 (GRCm39) W11G possibly damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tlk2 A T 11: 105,131,266 (GRCm39) Q204L probably benign Het
Tnfrsf21 A T 17: 43,348,829 (GRCm39) H147L possibly damaging Het
Tnrc18 A T 5: 142,751,842 (GRCm39) D1154E unknown Het
Trap1 A G 16: 3,886,200 (GRCm39) S86P probably benign Het
Trim32 T A 4: 65,533,013 (GRCm39) C523* probably null Het
Ttc38 G T 15: 85,722,989 (GRCm39) D146Y probably damaging Het
Ttc9 T A 12: 81,678,570 (GRCm39) L131Q probably damaging Het
Ttn T C 2: 76,557,192 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubash3b G A 9: 40,954,869 (GRCm39) P92S possibly damaging Het
Ube4a T C 9: 44,859,397 (GRCm39) N367S probably damaging Het
Ubr4 T A 4: 139,206,851 (GRCm39) H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 (GRCm39) G265D possibly damaging Het
Vmn2r27 T A 6: 124,201,442 (GRCm39) I172F probably damaging Het
Vmn2r6 A T 3: 64,463,519 (GRCm39) H438Q possibly damaging Het
Vmn2r61 A G 7: 41,949,425 (GRCm39) D615G probably benign Het
Wdr24 T A 17: 26,045,256 (GRCm39) D330E probably damaging Het
Zbbx A T 3: 74,985,719 (GRCm39) N444K probably benign Het
Zc3h7b A T 15: 81,676,529 (GRCm39) Q757L probably damaging Het
Zpld2 T G 4: 133,929,252 (GRCm39) N351T possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- CACAGAGCATAATGTTGAGTTGTG -3'
(R):5'- AATGGGGATCCCTTGCTTG -3'

Sequencing Primer
(F):5'- TAATGTTGAGTTGTGAAGGAAACTG -3'
(R):5'- GGGGATCCCTTGCTTGCTTTAATTC -3'
Posted On 2014-09-17