Incidental Mutation 'R7243:Fyb1'
ID 563387
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 045307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 6552334-6692794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6673180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 605 (F605L)
Ref Sequence ENSEMBL: ENSMUSP00000087947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090461]
AlphaFold O35601
Predicted Effect probably benign
Transcript: ENSMUST00000090461
AA Change: F605L

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: F605L

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
SMART Domains Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
AA Change: F5L

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:hSH3 86 170 4.1e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCCCTAACACGCTTTAAAATAATC -3'
(R):5'- CCTTCTCACAATTTTAGGACCGAAG -3'

Sequencing Primer
(F):5'- ACTGATTTAGGAACTATCTACGTGG -3'
(R):5'- TCACAATTTTAGGACCGAAGAAGAAC -3'
Posted On 2019-06-26