Incidental Mutation 'IGL02884:Fbf1'
ID 362910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbf1
Ensembl Gene ENSMUSG00000020776
Gene Name Fas binding factor 1
Synonyms 1110033G01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02884
Quality Score
Status
Chromosome 11
Chromosomal Location 116033111-116058992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116037339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 940 (E940K)
Ref Sequence ENSEMBL: ENSMUSP00000102043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103031] [ENSMUST00000106435]
AlphaFold A2A870
Predicted Effect probably damaging
Transcript: ENSMUST00000103031
AA Change: E940K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: E940K

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
low complexity region 151 164 N/A INTRINSIC
low complexity region 201 216 N/A INTRINSIC
coiled coil region 617 745 N/A INTRINSIC
SCOP:d1sig__ 808 975 9e-3 SMART
low complexity region 976 1005 N/A INTRINSIC
low complexity region 1031 1068 N/A INTRINSIC
low complexity region 1110 1130 N/A INTRINSIC
low complexity region 1131 1146 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106435
AA Change: E940K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: E940K

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
low complexity region 151 164 N/A INTRINSIC
low complexity region 201 216 N/A INTRINSIC
coiled coil region 617 745 N/A INTRINSIC
SCOP:d1sig__ 808 975 9e-3 SMART
low complexity region 976 1005 N/A INTRINSIC
low complexity region 1031 1068 N/A INTRINSIC
low complexity region 1110 1130 N/A INTRINSIC
low complexity region 1131 1146 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136318
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Fbf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Fbf1 APN 11 116,041,907 (GRCm39) missense probably benign 0.00
IGL01420:Fbf1 APN 11 116,036,822 (GRCm39) missense probably benign 0.07
IGL01971:Fbf1 APN 11 116,034,208 (GRCm39) unclassified probably benign
IGL01995:Fbf1 APN 11 116,041,846 (GRCm39) missense probably null 0.00
IGL02639:Fbf1 APN 11 116,043,426 (GRCm39) missense probably benign 0.14
IGL03001:Fbf1 APN 11 116,056,712 (GRCm39) start gained probably benign
IGL03309:Fbf1 APN 11 116,038,637 (GRCm39) missense probably damaging 1.00
R0098:Fbf1 UTSW 11 116,038,945 (GRCm39) critical splice donor site probably null
R0098:Fbf1 UTSW 11 116,038,945 (GRCm39) critical splice donor site probably null
R0234:Fbf1 UTSW 11 116,045,860 (GRCm39) missense probably damaging 1.00
R0234:Fbf1 UTSW 11 116,045,860 (GRCm39) missense probably damaging 1.00
R0257:Fbf1 UTSW 11 116,045,917 (GRCm39) missense probably benign 0.05
R0394:Fbf1 UTSW 11 116,043,288 (GRCm39) unclassified probably benign
R0637:Fbf1 UTSW 11 116,050,880 (GRCm39) unclassified probably benign
R1512:Fbf1 UTSW 11 116,038,753 (GRCm39) missense probably damaging 1.00
R1679:Fbf1 UTSW 11 116,041,843 (GRCm39) critical splice donor site probably null
R1726:Fbf1 UTSW 11 116,036,280 (GRCm39) missense probably benign
R1909:Fbf1 UTSW 11 116,036,818 (GRCm39) missense possibly damaging 0.79
R1970:Fbf1 UTSW 11 116,042,317 (GRCm39) missense possibly damaging 0.93
R2507:Fbf1 UTSW 11 116,046,252 (GRCm39) missense probably benign
R2847:Fbf1 UTSW 11 116,048,514 (GRCm39) critical splice donor site probably null
R2849:Fbf1 UTSW 11 116,048,514 (GRCm39) critical splice donor site probably null
R2867:Fbf1 UTSW 11 116,052,274 (GRCm39) unclassified probably benign
R3161:Fbf1 UTSW 11 116,039,046 (GRCm39) missense probably damaging 1.00
R3711:Fbf1 UTSW 11 116,054,179 (GRCm39) missense probably damaging 1.00
R3711:Fbf1 UTSW 11 116,052,299 (GRCm39) missense possibly damaging 0.66
R3752:Fbf1 UTSW 11 116,038,622 (GRCm39) missense probably benign 0.21
R4293:Fbf1 UTSW 11 116,039,720 (GRCm39) missense probably damaging 1.00
R4344:Fbf1 UTSW 11 116,038,568 (GRCm39) missense probably benign
R4345:Fbf1 UTSW 11 116,038,568 (GRCm39) missense probably benign
R4604:Fbf1 UTSW 11 116,049,748 (GRCm39) missense possibly damaging 0.81
R4828:Fbf1 UTSW 11 116,039,777 (GRCm39) missense probably benign 0.00
R4936:Fbf1 UTSW 11 116,043,378 (GRCm39) missense probably benign 0.05
R5561:Fbf1 UTSW 11 116,048,646 (GRCm39) missense probably damaging 1.00
R6392:Fbf1 UTSW 11 116,043,775 (GRCm39) critical splice acceptor site probably null
R6559:Fbf1 UTSW 11 116,046,272 (GRCm39) missense probably benign 0.15
R6993:Fbf1 UTSW 11 116,043,610 (GRCm39) missense probably benign
R7207:Fbf1 UTSW 11 116,040,300 (GRCm39) missense probably benign 0.01
R7544:Fbf1 UTSW 11 116,056,659 (GRCm39) missense probably benign 0.01
R7988:Fbf1 UTSW 11 116,043,594 (GRCm39) missense probably benign 0.00
R8230:Fbf1 UTSW 11 116,037,565 (GRCm39) missense probably benign
R8262:Fbf1 UTSW 11 116,044,845 (GRCm39) missense probably benign 0.19
R8508:Fbf1 UTSW 11 116,056,707 (GRCm39) start codon destroyed probably null 0.00
X0020:Fbf1 UTSW 11 116,041,619 (GRCm39) missense possibly damaging 0.78
X0060:Fbf1 UTSW 11 116,039,682 (GRCm39) nonsense probably null
X0062:Fbf1 UTSW 11 116,040,252 (GRCm39) missense probably benign 0.09
Posted On 2015-12-18