Incidental Mutation 'R6883:Fnbp4'
ID 536879
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 044978-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6883 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 90576172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000013759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000013759
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 92% (45/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A G 9: 118,985,728 (GRCm39) S66P possibly damaging Het
Adh7 A T 3: 137,929,825 (GRCm39) E167V probably damaging Het
Ano6 T C 15: 95,859,992 (GRCm39) S705P probably damaging Het
Arpc1b T C 5: 145,063,739 (GRCm39) V329A probably benign Het
Btla C T 16: 45,063,092 (GRCm39) H152Y probably benign Het
Cadps T C 14: 12,465,883 (GRCm38) E1009G probably damaging Het
Cttnbp2nl A G 3: 104,918,507 (GRCm39) probably null Het
Cyp4a12a G T 4: 115,159,221 (GRCm39) V164F probably damaging Het
Duox1 G T 2: 122,155,065 (GRCm39) probably null Het
Fcgbpl1 A T 7: 27,852,260 (GRCm39) H1261L possibly damaging Het
Fmo6 A G 1: 162,757,461 (GRCm39) I104T probably damaging Het
Garem1 T C 18: 21,262,769 (GRCm39) T682A probably benign Het
Gm49358 A G 10: 86,651,762 (GRCm39) E188G probably benign Het
Gm5773 T C 3: 93,681,162 (GRCm39) I278T probably benign Het
Ifi27l2a A G 12: 103,409,756 (GRCm39) probably benign Het
Inpp5d A C 1: 87,627,412 (GRCm39) K308T probably damaging Het
Irf6 A T 1: 192,849,774 (GRCm39) Y232F probably damaging Het
Kcnmb4 T C 10: 116,309,248 (GRCm39) Q60R probably benign Het
Klri2 T C 6: 129,709,985 (GRCm39) D205G probably benign Het
Mcm9 A T 10: 53,492,110 (GRCm39) W352R probably damaging Het
Nat8 A G 6: 85,807,650 (GRCm39) V161A possibly damaging Het
Nlrp9c A T 7: 26,077,556 (GRCm39) M742K probably benign Het
Or10ag58 C A 2: 87,265,623 (GRCm39) T264K probably damaging Het
Or13j1 T C 4: 43,705,723 (GRCm39) T282A possibly damaging Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Pcdha11 A T 18: 37,144,242 (GRCm39) D111V probably damaging Het
Pcdhb6 A T 18: 37,468,198 (GRCm39) D373V probably damaging Het
Pcolce2 A T 9: 95,560,396 (GRCm39) probably null Het
Pik3cb T C 9: 98,983,453 (GRCm39) M52V probably benign Het
Pipox T C 11: 77,774,729 (GRCm39) E118G probably benign Het
Pou4f2 T C 8: 79,162,307 (GRCm39) S99G probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Sim2 G T 16: 93,926,395 (GRCm39) A540S probably benign Het
Smg1 A T 7: 117,767,403 (GRCm39) probably benign Het
Sntb1 A G 15: 55,769,719 (GRCm39) V90A probably benign Het
Spns2 T C 11: 72,347,196 (GRCm39) probably null Het
Syne1 G T 10: 5,181,704 (GRCm39) C4210* probably null Het
Tek T C 4: 94,725,426 (GRCm39) I564T possibly damaging Het
Tmem94 T G 11: 115,687,287 (GRCm39) C1135W probably damaging Het
Tnxb T A 17: 34,937,493 (GRCm39) D3827E probably damaging Het
Ttl A G 2: 128,923,992 (GRCm39) D235G possibly damaging Het
Tuba4a A G 1: 75,194,066 (GRCm39) S5P probably damaging Het
Uaca T A 9: 60,777,173 (GRCm39) V518D probably damaging Het
Unc80 A T 1: 66,685,563 (GRCm39) Q2229L probably benign Het
Unkl C T 17: 25,449,307 (GRCm39) A78V probably damaging Het
Uroc1 C T 6: 90,315,574 (GRCm39) Q152* probably null Het
Vmn2r51 G T 7: 9,834,025 (GRCm39) Q338K possibly damaging Het
Vps50 C T 6: 3,498,513 (GRCm39) probably benign 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
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
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'- AATATTGATTACGCACCGGGG -3'
(R):5'- AAAGGCGCCTCAGATGAGTC -3'

Sequencing Primer
(F):5'- TCCGGCTCATGATGGGGAAG -3'
(R):5'- TCAGATGAGTCCGGGCC -3'
Posted On 2018-10-18