Incidental Mutation 'R8724:Fnbp4'
ID 662266
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 068573-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R8724 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90577097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
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: V143A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: V143A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ank2 A T 3: 126,737,405 (GRCm39) D2826E unknown Het
Asb3 A T 11: 31,051,120 (GRCm39) I486F probably damaging Het
Atg4b A T 1: 93,696,023 (GRCm39) Y54F probably damaging Het
Atp1a2 T A 1: 172,106,945 (GRCm39) I792F probably benign Het
Bltp1 G A 3: 36,945,042 (GRCm39) V334I probably damaging Het
Ccser1 A C 6: 61,288,199 (GRCm39) S121R probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cep120 A T 18: 53,856,199 (GRCm39) V406E possibly damaging Het
Ces2g C A 8: 105,692,955 (GRCm39) A331D probably benign Het
Csnk1g2 G A 10: 80,474,760 (GRCm39) R299H probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dock10 T G 1: 80,570,344 (GRCm39) I371L probably benign Het
Dpp9 T A 17: 56,512,867 (GRCm39) T114S probably benign Het
Dusp13b T C 14: 21,796,475 (GRCm39) R160G probably benign Het
Dync2i2 T C 2: 29,923,961 (GRCm39) D188G probably benign Het
Edem3 A G 1: 151,651,624 (GRCm39) K122R possibly damaging Het
Ehbp1l1 A G 19: 5,765,886 (GRCm39) S1486P possibly damaging Het
Elf3 A G 1: 135,182,098 (GRCm39) I361T probably damaging Het
Epha3 C T 16: 63,403,818 (GRCm39) C761Y probably damaging Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Eya1 A T 1: 14,279,206 (GRCm39) D346E probably benign Het
Fat2 T C 11: 55,173,786 (GRCm39) Y2309C probably damaging Het
Fbn1 T C 2: 125,202,066 (GRCm39) D1269G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Foxo6 A G 4: 120,144,109 (GRCm39) I114T probably damaging Het
Gm6741 T C 17: 91,544,564 (GRCm39) I109T probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Hsf1 C T 15: 76,381,999 (GRCm39) S199L probably damaging Het
Htr3a T C 9: 48,815,981 (GRCm39) N152S probably damaging Het
Ikzf2 T A 1: 69,617,100 (GRCm39) E82D probably benign Het
Kank2 T G 9: 21,705,917 (GRCm39) K367T possibly damaging Het
Kif20b T A 19: 34,916,146 (GRCm39) probably benign Het
Ktn1 G A 14: 47,931,335 (GRCm39) V643I probably benign Het
Lipk G A 19: 33,996,120 (GRCm39) V11M probably benign Het
Med4 T A 14: 73,751,249 (GRCm39) L66* probably null Het
Mtus1 T C 8: 41,451,500 (GRCm39) K379E probably damaging Het
Nat1 T A 8: 67,944,443 (GRCm39) I276N probably damaging Het
Nav2 G A 7: 49,141,184 (GRCm39) V910M possibly damaging Het
Or10ag53 T A 2: 87,082,704 (GRCm39) I141N probably damaging Het
Or4a80 A T 2: 89,582,373 (GRCm39) D266E probably damaging Het
Pcdh9 A G 14: 94,124,583 (GRCm39) V529A probably benign Het
Pcdhga7 C T 18: 37,848,146 (GRCm39) T51I probably benign Het
Pdcd1 A G 1: 93,968,956 (GRCm39) Y121H probably damaging Het
Pdia6 A G 12: 17,333,982 (GRCm39) D438G unknown Het
Pgm1 A G 4: 99,786,964 (GRCm39) T68A probably benign Het
Pik3c2g G A 6: 139,913,619 (GRCm39) V1006I unknown Het
Plk4 C T 3: 40,768,022 (GRCm39) T855I probably damaging Het
Pnldc1 T A 17: 13,111,703 (GRCm39) N335Y probably damaging Het
Prkcq C T 2: 11,304,784 (GRCm39) P658S probably benign Het
Rbl2 T C 8: 91,841,837 (GRCm39) I1011T possibly damaging Het
Rev1 A C 1: 38,127,150 (GRCm39) V370G probably damaging Het
Rtn4 A G 11: 29,643,316 (GRCm39) E43G unknown Het
Rtp2 C T 16: 23,746,064 (GRCm39) G189D possibly damaging Het
Ryr1 G A 7: 28,816,802 (GRCm39) A78V probably benign Het
Sel1l3 A C 5: 53,293,165 (GRCm39) Y850* probably null Het
Senp3 T C 11: 69,564,419 (GRCm39) Q547R probably damaging Het
Siglecf T C 7: 43,004,976 (GRCm39) L402P probably damaging Het
Slc24a1 T C 9: 64,855,453 (GRCm39) I485V probably benign Het
Slc45a2 T A 15: 11,012,610 (GRCm39) H204Q probably benign Het
Slc9a4 T G 1: 40,623,301 (GRCm39) I180S probably damaging Het
Smyd1 T A 6: 71,193,767 (GRCm39) Y420F probably damaging Het
Sorcs1 A G 19: 50,139,658 (GRCm39) I1168T probably benign Het
Syne1 T C 10: 5,033,861 (GRCm39) E7737G possibly damaging Het
Trappc4 T A 9: 44,316,560 (GRCm39) H145L probably benign Het
Wdr75 T A 1: 45,856,560 (GRCm39) W528R probably damaging Het
Zc3h13 T C 14: 75,569,512 (GRCm39) V1453A probably benign Het
Zfp143 T C 7: 109,681,110 (GRCm39) I318T probably benign Het
Zfp846 G A 9: 20,505,352 (GRCm39) R404H 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
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
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
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'- AGTTTGCATCAGTGATACACGC -3'
(R):5'- AAGAGTGGAACCCAGAGTTTTGC -3'

Sequencing Primer
(F):5'- CACGCTGGTTTTATAAGTTGATTCAG -3'
(R):5'- GTGGAACCCAGAGTTTTGCATCTC -3'
Posted On 2021-03-08