Incidental Mutation 'IGL02345:Fyb1'
ID 289240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fyb1
Ensembl Gene ENSMUSG00000022148
Gene Name FYN binding protein 1
Synonyms B630013F22Rik, Fyb, ADAP, FYB-120/130
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02345
Quality Score
Status
Chromosome 15
Chromosomal Location 6552334-6692794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6649143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 390 (S390G)
Ref Sequence ENSEMBL: ENSMUSP00000087947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090461] [ENSMUST00000160612]
AlphaFold O35601
Predicted Effect possibly damaging
Transcript: ENSMUST00000090461
AA Change: S390G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: S390G

DomainStartEndE-ValueType
low complexity region 67 85 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
low complexity region 236 246 N/A INTRINSIC
low complexity region 335 353 N/A INTRINSIC
low complexity region 371 409 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
low complexity region 457 494 N/A INTRINSIC
SH3 502 559 1.24e-3 SMART
low complexity region 611 626 N/A INTRINSIC
Pfam:hSH3 731 819 2.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160612
SMART Domains Protein: ENSMUSP00000124553
Gene: ENSMUSG00000022148

DomainStartEndE-ValueType
low complexity region 27 65 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162430
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is an adapter molecule that affects T cell receptor signaling and contains multiple protein-protein interaction domains. It is thought to couple T cell receptor stimulation with activation of integrin function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation, thymocytes and platelet counts and decreased TCR-stimulated leukocyte adhesion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,214,215 (GRCm39) D177Y possibly damaging Het
Casc3 T C 11: 98,718,390 (GRCm39) probably benign Het
Catspere2 G A 1: 177,842,754 (GRCm39) V60I possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Dcun1d4 A G 5: 73,668,495 (GRCm39) D41G probably damaging Het
Dnm1l T C 16: 16,147,758 (GRCm39) S181G possibly damaging Het
Dyrk1a T G 16: 94,472,221 (GRCm39) S242A possibly damaging Het
Fcgbp T A 7: 27,771,068 (GRCm39) probably benign Het
Fibcd1 T C 2: 31,706,604 (GRCm39) Y409C probably damaging Het
Fig4 A T 10: 41,143,770 (GRCm39) W230R probably null Het
Flt1 T C 5: 147,519,436 (GRCm39) S960G probably benign Het
Gbx2 T C 1: 89,856,698 (GRCm39) T231A probably benign Het
Gm5852 T A 3: 93,635,055 (GRCm39) noncoding transcript Het
Lmo7 T C 14: 102,124,909 (GRCm39) V456A probably damaging Het
Mark3 A G 12: 111,593,541 (GRCm39) N191S probably damaging Het
Or7h8 C A 9: 20,124,314 (GRCm39) S223Y possibly damaging Het
Pik3c2a C T 7: 116,005,126 (GRCm39) E381K probably damaging Het
Pik3r5 A G 11: 68,383,552 (GRCm39) D457G probably benign Het
Plcg2 T C 8: 118,311,919 (GRCm39) S404P probably damaging Het
Prr16 T C 18: 51,436,301 (GRCm39) F260S probably damaging Het
Psd4 T C 2: 24,291,835 (GRCm39) probably null Het
Ptgs1 A G 2: 36,132,983 (GRCm39) D327G probably null Het
Rgsl1 C T 1: 153,679,755 (GRCm39) probably null Het
Spart T A 3: 55,025,147 (GRCm39) probably null Het
Sugp1 A G 8: 70,495,734 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Usp19 A G 9: 108,371,057 (GRCm39) T240A probably benign Het
Vash2 A G 1: 190,710,412 (GRCm39) V81A probably benign Het
Vmn2r41 T G 7: 8,141,767 (GRCm39) N566H probably damaging Het
Wdr31 A G 4: 62,377,083 (GRCm39) I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 (GRCm39) V1272I possibly damaging Het
Zfp638 C T 6: 83,961,857 (GRCm39) R1899C probably damaging Het
Other mutations in Fyb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Fyb1 APN 15 6,610,258 (GRCm39) missense probably damaging 0.99
IGL00801:Fyb1 APN 15 6,674,305 (GRCm39) missense possibly damaging 0.86
IGL00974:Fyb1 APN 15 6,672,066 (GRCm39) unclassified probably benign
IGL01377:Fyb1 APN 15 6,609,801 (GRCm39) missense probably benign 0.01
IGL01982:Fyb1 APN 15 6,609,658 (GRCm39) missense probably null 0.99
IGL02173:Fyb1 APN 15 6,610,176 (GRCm39) missense probably benign 0.00
IGL02177:Fyb1 APN 15 6,688,047 (GRCm39) critical splice donor site probably null
IGL02695:Fyb1 APN 15 6,610,402 (GRCm39) missense probably damaging 1.00
IGL02820:Fyb1 APN 15 6,688,040 (GRCm39) missense possibly damaging 0.65
IGL02867:Fyb1 APN 15 6,609,527 (GRCm39) missense probably damaging 1.00
baddie UTSW 15 6,681,972 (GRCm39) missense probably damaging 1.00
luegner UTSW 15 6,610,350 (GRCm39) nonsense probably null
uebeltaeter UTSW 15 6,668,388 (GRCm39) missense probably damaging 1.00
P0023:Fyb1 UTSW 15 6,681,335 (GRCm39) missense probably damaging 1.00
R0028:Fyb1 UTSW 15 6,674,395 (GRCm39) intron probably benign
R0364:Fyb1 UTSW 15 6,610,272 (GRCm39) missense probably damaging 1.00
R0507:Fyb1 UTSW 15 6,664,297 (GRCm39) missense probably benign 0.39
R0588:Fyb1 UTSW 15 6,609,940 (GRCm39) missense probably benign 0.03
R0742:Fyb1 UTSW 15 6,664,297 (GRCm39) missense probably benign 0.39
R0930:Fyb1 UTSW 15 6,668,309 (GRCm39) missense probably damaging 1.00
R1184:Fyb1 UTSW 15 6,668,381 (GRCm39) missense probably damaging 1.00
R1446:Fyb1 UTSW 15 6,681,947 (GRCm39) missense probably benign 0.02
R1481:Fyb1 UTSW 15 6,649,128 (GRCm39) missense probably benign 0.01
R1711:Fyb1 UTSW 15 6,609,960 (GRCm39) missense probably damaging 1.00
R2041:Fyb1 UTSW 15 6,674,268 (GRCm39) missense possibly damaging 0.78
R2176:Fyb1 UTSW 15 6,609,435 (GRCm39) missense probably damaging 1.00
R2224:Fyb1 UTSW 15 6,681,864 (GRCm39) missense probably damaging 1.00
R2372:Fyb1 UTSW 15 6,681,388 (GRCm39) splice site probably benign
R3236:Fyb1 UTSW 15 6,659,597 (GRCm39) missense probably damaging 0.96
R4117:Fyb1 UTSW 15 6,659,597 (GRCm39) missense probably damaging 0.96
R4181:Fyb1 UTSW 15 6,610,404 (GRCm39) missense probably benign 0.00
R4322:Fyb1 UTSW 15 6,610,300 (GRCm39) missense possibly damaging 0.84
R4952:Fyb1 UTSW 15 6,668,292 (GRCm39) missense probably damaging 1.00
R4981:Fyb1 UTSW 15 6,676,092 (GRCm39) splice site probably benign
R5055:Fyb1 UTSW 15 6,614,630 (GRCm39) unclassified probably benign
R5368:Fyb1 UTSW 15 6,610,159 (GRCm39) splice site probably null
R5719:Fyb1 UTSW 15 6,610,350 (GRCm39) nonsense probably null
R5822:Fyb1 UTSW 15 6,692,707 (GRCm39) unclassified probably benign
R6064:Fyb1 UTSW 15 6,668,349 (GRCm39) missense probably damaging 1.00
R6929:Fyb1 UTSW 15 6,668,388 (GRCm39) missense probably damaging 1.00
R7125:Fyb1 UTSW 15 6,674,337 (GRCm39) missense possibly damaging 0.77
R7243:Fyb1 UTSW 15 6,673,180 (GRCm39) missense probably benign 0.19
R7748:Fyb1 UTSW 15 6,668,307 (GRCm39) missense probably damaging 1.00
R7750:Fyb1 UTSW 15 6,690,184 (GRCm39) missense probably damaging 1.00
R7902:Fyb1 UTSW 15 6,690,197 (GRCm39) critical splice donor site probably null
R8182:Fyb1 UTSW 15 6,681,293 (GRCm39) missense probably benign
R8841:Fyb1 UTSW 15 6,681,972 (GRCm39) missense probably damaging 1.00
R9103:Fyb1 UTSW 15 6,673,232 (GRCm39) missense possibly damaging 0.66
R9256:Fyb1 UTSW 15 6,674,358 (GRCm39) missense possibly damaging 0.61
R9385:Fyb1 UTSW 15 6,664,297 (GRCm39) missense probably benign 0.39
R9739:Fyb1 UTSW 15 6,670,063 (GRCm39) missense probably benign 0.00
Z1088:Fyb1 UTSW 15 6,688,021 (GRCm39) missense probably benign 0.41
Posted On 2015-04-16