Incidental Mutation 'IGL02639:Fbf1'
ID 301658
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 # IGL02639
Quality Score
Status
Chromosome 11
Chromosomal Location 116033111-116058992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116043426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 461 (E461G)
Ref Sequence ENSEMBL: ENSMUSP00000102043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103031] [ENSMUST00000106435] [ENSMUST00000124828]
AlphaFold A2A870
Predicted Effect probably benign
Transcript: ENSMUST00000103031
AA Change: E461G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: E461G

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 benign
Transcript: ENSMUST00000106435
AA Change: E461G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: E461G

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 benign
Transcript: ENSMUST00000124828
SMART Domains Protein: ENSMUSP00000114558
Gene: ENSMUSG00000020776

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143038
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,430,048 (GRCm39) R71* probably null Het
Abca5 A T 11: 110,178,899 (GRCm39) I1140N possibly damaging Het
Atp6v0a1 T A 11: 100,946,344 (GRCm39) I773N possibly damaging Het
Atp9a A G 2: 168,491,540 (GRCm39) M675T probably damaging Het
Baz1a A G 12: 54,942,810 (GRCm39) probably benign Het
Cd5l T C 3: 87,275,813 (GRCm39) V261A probably damaging Het
Copb1 A G 7: 113,825,830 (GRCm39) probably benign Het
Cul5 T C 9: 53,566,642 (GRCm39) D130G possibly damaging Het
Cyp2j5 T A 4: 96,546,986 (GRCm39) Q176L probably benign Het
Ddo A G 10: 40,523,733 (GRCm39) D241G probably damaging Het
Defa29 A G 8: 21,816,137 (GRCm39) C77R possibly damaging Het
Dpp4 T C 2: 62,182,584 (GRCm39) N566D probably benign Het
Eif1ad14 G T 12: 87,886,269 (GRCm39) T120K probably benign Het
Emilin2 T C 17: 71,581,544 (GRCm39) D394G probably benign Het
Fgfr2 A G 7: 129,830,532 (GRCm39) probably benign Het
Fibcd1 G A 2: 31,707,162 (GRCm39) T365M probably damaging Het
Fndc3a A C 14: 72,811,797 (GRCm39) H344Q probably benign Het
Fnip1 T A 11: 54,366,466 (GRCm39) C52* probably null Het
Fto T A 8: 92,136,156 (GRCm39) N143K probably damaging Het
Hells G T 19: 38,926,873 (GRCm39) L84F probably damaging Het
Hydin G A 8: 111,265,081 (GRCm39) V2755I probably benign Het
Irgq C A 7: 24,230,887 (GRCm39) A26E probably damaging Het
Katnip A G 7: 125,471,964 (GRCm39) I1518V probably damaging Het
Klhl29 A T 12: 5,187,453 (GRCm39) Y304N probably damaging Het
Muc6 T C 7: 141,235,843 (GRCm39) probably benign Het
Myo15a T C 11: 60,369,447 (GRCm39) F736L probably benign Het
Nynrin G T 14: 56,108,112 (GRCm39) W1073L probably damaging Het
Or10h28 G A 17: 33,488,369 (GRCm39) V224M possibly damaging Het
Or10w1 A T 19: 13,631,960 (GRCm39) T51S possibly damaging Het
Or14c46 A T 7: 85,918,928 (GRCm39) I23N probably damaging Het
Or14j10 A T 17: 37,934,878 (GRCm39) I216N probably benign Het
Or1e29 A T 11: 73,667,371 (GRCm39) C261S probably benign Het
Or51a10 C A 7: 103,698,988 (GRCm39) C191F probably damaging Het
Or52e8b T A 7: 104,673,429 (GRCm39) I253F probably damaging Het
Pdzd2 T A 15: 12,592,329 (GRCm39) K105M probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pola2 A G 19: 6,003,802 (GRCm39) V191A probably benign Het
Slc22a8 A T 19: 8,571,323 (GRCm39) Y18F probably benign Het
Slc26a5 C T 5: 22,024,765 (GRCm39) V440M 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
IGL02884:Fbf1 APN 11 116,037,339 (GRCm39) missense probably damaging 1.00
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 2015-04-16