Incidental Mutation 'R7455:Fnbp4'
ID 578051
Institutional Source Beutler Lab
Gene Symbol Fnbp4
Ensembl Gene ENSMUSG00000008200
Gene Name formin binding protein 4
Synonyms FBP30
MMRRC Submission 045529-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R7455 (G1)
Quality Score 217.468
Status Validated
Chromosome 2
Chromosomal Location 90575793-90611365 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) ACCACCTCCACCTCCACCTCC to ACCACCTCCACCTCCACCTCCACCTCC at 90608159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold no structure available at present
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000037219
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 5e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051831
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 565 1.6e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136058
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 2.8e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170320
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 558 1.8e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 C T 7: 76,074,503 (GRCm39) H646Y unknown Het
Ak5 C T 3: 152,187,209 (GRCm39) R426H probably damaging Het
Akap9 T C 5: 4,022,792 (GRCm39) V1207A probably benign Het
Asph A T 4: 9,531,732 (GRCm39) probably null Het
Avpr1a T G 10: 122,285,169 (GRCm39) C154G probably damaging Het
Boll T C 1: 55,339,262 (GRCm39) Q283R probably benign Het
Cad C T 5: 31,231,506 (GRCm39) P1743S probably damaging Het
Ccdc137 T G 11: 120,350,985 (GRCm39) M129R probably damaging Het
Cdh23 A G 10: 60,142,003 (GRCm39) I3028T possibly damaging Het
Cep68 T A 11: 20,180,571 (GRCm39) I687F probably damaging Het
Ces2a T A 8: 105,464,154 (GRCm39) I262N probably damaging Het
Cfap44 A G 16: 44,225,147 (GRCm39) probably benign Het
Cfap69 T G 5: 5,675,873 (GRCm39) H247P possibly damaging Het
Cideb T C 14: 55,992,292 (GRCm39) T134A probably damaging Het
Cilp2 A T 8: 70,333,721 (GRCm39) D1092E probably damaging Het
Cptp G A 4: 155,950,957 (GRCm39) R170C probably damaging Het
Cysrt1 A G 2: 25,129,422 (GRCm39) L30S probably benign Het
Dcc A G 18: 71,553,394 (GRCm39) V754A probably benign Het
Entrep2 A G 7: 64,409,161 (GRCm39) V411A probably benign Het
Fer1l5 A T 1: 36,428,064 (GRCm39) T453S probably benign Het
Frem2 C T 3: 53,479,701 (GRCm39) probably null Het
Gm13941 A G 2: 110,925,085 (GRCm39) F173L unknown Het
Greb1l G A 18: 10,554,915 (GRCm39) A1654T probably damaging Het
Inpp4b T A 8: 82,798,332 (GRCm39) I840N probably damaging Het
Kdm4b T A 17: 56,703,657 (GRCm39) I746N probably damaging Het
Lins1 C A 7: 66,361,692 (GRCm39) H448N probably benign Het
Ly9 A T 1: 171,421,507 (GRCm39) Y581* probably null Het
Mark1 T A 1: 184,651,947 (GRCm39) E186V probably damaging Het
Mcph1 T A 8: 18,681,775 (GRCm39) V304E probably benign Het
Mical3 T C 6: 120,935,705 (GRCm39) D1607G probably damaging Het
Mup18 A G 4: 61,592,171 (GRCm39) V31A probably benign Het
Nectin3 A T 16: 46,317,105 (GRCm39) C11* probably null Het
Nedd1 A T 10: 92,536,787 (GRCm39) L172M probably benign Het
Nim1k G A 13: 120,173,995 (GRCm39) R300W probably damaging Het
Oprm1 T C 10: 6,780,204 (GRCm39) F289L probably damaging Het
Or4c115 G T 2: 88,927,434 (GRCm39) P279Q probably damaging Het
Or7g12 A G 9: 18,900,150 (GRCm39) I289V possibly damaging Het
Or8c8 T C 9: 38,165,550 (GRCm39) V276A probably damaging Het
Parg T C 14: 31,931,432 (GRCm39) Y351H probably benign Het
Phf3 A C 1: 30,876,239 (GRCm39) V118G probably damaging Het
Pik3c2g T C 6: 139,913,643 (GRCm39) Y1014H unknown Het
Pmp22 A G 11: 63,025,339 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,917,848 (GRCm39) F501L probably damaging Het
Rgl2 G A 17: 34,151,657 (GRCm39) A234T probably benign Het
Rhpn2 G A 7: 35,070,669 (GRCm39) probably null Het
Ryr3 T C 2: 112,559,211 (GRCm39) K3058E probably damaging Het
Sbsn A T 7: 30,452,602 (GRCm39) Q539L possibly damaging Het
Scgn G A 13: 24,150,848 (GRCm39) R168C probably benign Het
Serpinb10 A G 1: 107,463,832 (GRCm39) Y38C probably damaging Het
Sfmbt2 G A 2: 10,582,766 (GRCm39) V709I probably benign Het
Slc1a2 A T 2: 102,566,299 (GRCm39) M10L probably benign Het
Sox6 T G 7: 115,088,904 (GRCm39) I653L probably benign Het
Tespa1 A G 10: 130,196,559 (GRCm39) I166V probably benign Het
Tex15 T C 8: 34,067,025 (GRCm39) Y2152H possibly damaging Het
Tlr9 A G 9: 106,101,729 (GRCm39) N340S probably benign Het
Tmem198 G A 1: 75,456,430 (GRCm39) R28Q unknown Het
Tut7 T C 13: 59,969,871 (GRCm39) Y8C probably benign Het
Vmn2r7 T C 3: 64,624,014 (GRCm39) D102G probably benign Het
Wdr93 A G 7: 79,425,267 (GRCm39) M529V probably benign Het
Zfp110 A G 7: 12,581,984 (GRCm39) H310R probably benign Het
Zfp36l2 A G 17: 84,494,575 (GRCm39) S21P probably damaging Het
Zfp534 G A 4: 147,759,212 (GRCm39) H486Y probably damaging Het
Zfp638 G A 6: 83,907,127 (GRCm39) V431I probably 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
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'- TATCTGCTAGCCATGCAGC -3'
(R):5'- ACCAGACTCACAGATATGCATGTATG -3'

Sequencing Primer
(F):5'- CAGCAGCAGGAGTGGGTC -3'
(R):5'- AAGACAGGGTTCCACTATGTTGCTC -3'
Posted On 2019-10-07