Incidental Mutation 'R9739:Fyb1'
ID 731773
Institutional Source Beutler Lab
Gene Symbol Fyb1
Ensembl Gene ENSMUSG00000022148
Gene Name FYN binding protein 1
Synonyms B630013F22Rik, Fyb, ADAP, FYB-120/130
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9739 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 6552334-6692794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6670063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 594 (N594S)
Ref Sequence ENSEMBL: ENSMUSP00000087947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090461]
AlphaFold O35601
Predicted Effect probably benign
Transcript: ENSMUST00000090461
AA Change: N594S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: N594S

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 probably benign
Transcript: ENSMUST00000163073
SMART Domains Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:hSH3 86 170 4.1e-42 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,592,849 (GRCm39) V313M probably damaging Het
Alg6 G A 4: 99,650,195 (GRCm39) V472I possibly damaging Het
Atp8b2 A G 3: 89,853,403 (GRCm39) V728A probably benign Het
Bach2 T A 4: 32,563,042 (GRCm39) I503N probably damaging Het
Bend3 T C 10: 43,385,847 (GRCm39) L80P possibly damaging Het
Casq1 T C 1: 172,043,051 (GRCm39) D215G possibly damaging Het
Ccdc175 A T 12: 72,186,792 (GRCm39) Y351N probably benign Het
Cd200r4 A T 16: 44,641,142 (GRCm39) probably benign Het
Ctnnal1 T C 4: 56,816,200 (GRCm39) D621G probably damaging Het
Esco1 T A 18: 10,594,218 (GRCm39) H356L probably benign Het
Fhod1 C T 8: 106,064,378 (GRCm39) V191M unknown Het
Fhod3 T C 18: 24,903,566 (GRCm39) L100P probably damaging Het
Fkbp4 T C 6: 128,410,728 (GRCm39) R234G probably benign Het
Flnb A T 14: 7,935,954 (GRCm38) K2265* probably null Het
Fsip2 T C 2: 82,823,896 (GRCm39) F6543S possibly damaging Het
Gm17019 G A 5: 15,082,841 (GRCm39) R38* probably null Het
Gm37240 A G 3: 84,417,113 (GRCm39) probably null Het
Gm9195 C T 14: 72,690,264 (GRCm39) D1820N probably damaging Het
Mycbp2 A G 14: 103,520,229 (GRCm39) V729A probably benign Het
Or8g21 G T 9: 38,906,302 (GRCm39) S143* probably null Het
Or9s18 T C 13: 65,300,442 (GRCm39) S135P probably damaging Het
Pde12 T C 14: 26,386,757 (GRCm39) T584A possibly damaging Het
Pfkfb2 T C 1: 130,624,815 (GRCm39) Q515R probably benign Het
Pkhd1 T C 1: 20,420,708 (GRCm39) N2466S probably damaging Het
Plcd1 A G 9: 118,901,195 (GRCm39) V720A possibly damaging Het
Pramel24 T A 4: 143,454,997 (GRCm39) F432I possibly damaging Het
Rapgef6 A G 11: 54,513,189 (GRCm39) T285A probably benign Het
Scyl3 T C 1: 163,771,419 (GRCm39) F255S probably damaging Het
Sfrp5 T A 19: 42,188,247 (GRCm39) M191L probably benign Het
Snrpf C T 10: 93,419,390 (GRCm39) C66Y probably benign Het
Syngr2 T A 11: 117,703,298 (GRCm39) I38N probably damaging Het
Thap1 C T 8: 26,650,990 (GRCm39) H87Y probably benign Het
Tubgcp3 A G 8: 12,699,744 (GRCm39) Y370H probably benign Het
Usp17la A T 7: 104,510,736 (GRCm39) N447I possibly damaging Het
Zfp532 C T 18: 65,757,894 (GRCm39) T609M probably benign 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
IGL02345:Fyb1 APN 15 6,649,143 (GRCm39) missense possibly damaging 0.94
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
Z1088:Fyb1 UTSW 15 6,688,021 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GTGTCTAAACTCCAGGTGCC -3'
(R):5'- CCCACTGTGTTTCAAATAGCAC -3'

Sequencing Primer
(F):5'- TAAACTCCAGGTGCCCGGAC -3'
(R):5'- ACATGATGTGTGTGGCCAAC -3'
Posted On 2022-11-14