Incidental Mutation 'IGL03370:Lyn'
ID420253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyn
Ensembl Gene ENSMUSG00000042228
Gene NameLYN proto-oncogene, Src family tyrosine kinase
SynonymsHck-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03370
Quality Score
Status
Chromosome4
Chromosomal Location3678115-3813122 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3780931 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 357 (Y357H)
Ref Sequence ENSEMBL: ENSMUSP00000038838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041377] [ENSMUST00000103010]
PDB Structure Lyn Tyrosine Kinase Domain, apo form [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-AMP-PNP complex [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-PP2 complex [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-Dasatinib complex [X-RAY DIFFRACTION]
Structure of unliganded Lyn SH2 domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041377
AA Change: Y357H

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: Y357H

DomainStartEndE-ValueType
SH3 66 122 9.24e-21 SMART
SH2 127 217 5.38e-33 SMART
TyrKc 247 497 3.25e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103010
AA Change: Y336H

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: Y336H

DomainStartEndE-ValueType
SH3 45 101 5.8e-23 SMART
SH2 106 196 3.3e-35 SMART
TyrKc 226 476 1.6e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137943
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit splenomegaly, reduced numbers of peripheral B cells, impaired immune responses, IgM hyperglobulinemia, autoimmunity with glomerulonephritis, and monocyte/macrophage tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A G 4: 56,741,173 Y62H probably damaging Het
Cfap52 A G 11: 67,939,055 I296T probably damaging Het
Col14a1 A G 15: 55,488,541 probably null Het
Daam2 G T 17: 49,486,501 D329E probably benign Het
Defb26 A G 2: 152,507,982 V126A probably benign Het
Fasn A T 11: 120,812,795 I1535N possibly damaging Het
Fbxw15 A T 9: 109,555,151 Y431N probably benign Het
Fbxw26 T G 9: 109,746,019 I13L probably damaging Het
Fggy A T 4: 95,822,064 H300L probably damaging Het
Fndc3c1 G A X: 106,420,701 T1277I probably benign Het
Gigyf1 G T 5: 137,525,690 V1041L possibly damaging Het
Kif26b G A 1: 178,915,381 R567H probably benign Het
Kpna6 G A 4: 129,655,521 T156M probably damaging Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Mki67 A G 7: 135,695,490 V2605A probably benign Het
Mtmr3 T C 11: 4,487,385 D1023G probably damaging Het
Muc5b G T 7: 141,864,777 R3820L probably benign Het
Mus81 A G 19: 5,484,963 probably benign Het
Nup188 A G 2: 30,340,641 Y1397C possibly damaging Het
Pgd A T 4: 149,165,228 V29D probably damaging Het
Plch2 T C 4: 154,986,914 S244G probably benign Het
Rapgef5 C A 12: 117,730,559 T372K probably damaging Het
Rb1 A G 14: 73,282,866 probably null Het
Ryr3 A T 2: 112,756,599 V2680E possibly damaging Het
Sgsm3 A C 15: 81,011,654 probably null Het
Slc38a1 C T 15: 96,579,347 V362I possibly damaging Het
Sun1 T A 5: 139,231,131 D308E probably damaging Het
Tns1 C T 1: 73,985,894 V387M probably damaging Het
Ttn C A 2: 76,751,739 G22937C probably damaging Het
Ubr1 C A 2: 120,895,160 A1258S probably benign Het
Vmn2r74 A G 7: 85,958,057 F153L probably benign Het
Other mutations in Lyn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01752:Lyn APN 4 3743286 missense probably benign
IGL02744:Lyn APN 4 3738808 missense probably benign 0.00
IGL02860:Lyn APN 4 3745594 missense possibly damaging 0.77
IGL03328:Lyn APN 4 3745327 missense probably benign 0.01
Cress UTSW 4 3789908 nonsense probably null
Friede UTSW 4 3789834 nonsense probably null
Kohlrabi UTSW 4 3783089 missense possibly damaging 0.74
lechuga UTSW 4 3783050 missense probably damaging 1.00
Lemon UTSW 4 3746768 missense probably damaging 1.00
Pacific UTSW 4 3745330 missense probably damaging 1.00
R1615_Lyn_036 UTSW 4 3748765 missense probably benign 0.11
water UTSW 4 3748787 missense possibly damaging 0.93
R0079:Lyn UTSW 4 3746768 missense probably damaging 1.00
R0089:Lyn UTSW 4 3748768 missense probably benign 0.23
R0582:Lyn UTSW 4 3743296 missense probably damaging 1.00
R0747:Lyn UTSW 4 3745638 splice site probably benign
R1460:Lyn UTSW 4 3789908 nonsense probably null
R1615:Lyn UTSW 4 3748765 missense probably benign 0.11
R1654:Lyn UTSW 4 3789912 missense probably damaging 0.99
R1703:Lyn UTSW 4 3738867 splice site probably null
R2301:Lyn UTSW 4 3780959 missense probably damaging 1.00
R2421:Lyn UTSW 4 3748787 missense possibly damaging 0.93
R2512:Lyn UTSW 4 3745542 missense probably benign 0.01
R3418:Lyn UTSW 4 3746833 missense probably damaging 0.97
R3419:Lyn UTSW 4 3746833 missense probably damaging 0.97
R3701:Lyn UTSW 4 3742455 missense probably benign
R3702:Lyn UTSW 4 3742455 missense probably benign
R3736:Lyn UTSW 4 3745330 missense probably damaging 1.00
R4350:Lyn UTSW 4 3789796 missense probably damaging 0.99
R4351:Lyn UTSW 4 3789796 missense probably damaging 0.99
R4352:Lyn UTSW 4 3789796 missense probably damaging 0.99
R4649:Lyn UTSW 4 3738850 missense probably benign
R5738:Lyn UTSW 4 3782987 missense probably damaging 1.00
R5875:Lyn UTSW 4 3745631 splice site probably null
R6375:Lyn UTSW 4 3745527 missense probably damaging 1.00
R7029:Lyn UTSW 4 3782996 missense probably damaging 0.98
R7621:Lyn UTSW 4 3789834 nonsense probably null
R7726:Lyn UTSW 4 3756428 nonsense probably null
R7940:Lyn UTSW 4 3783089 missense possibly damaging 0.74
R8169:Lyn UTSW 4 3783050 missense probably damaging 1.00
R8341:Lyn UTSW 4 3743304 critical splice donor site probably null
R8782:Lyn UTSW 4 3783055 missense probably damaging 1.00
Posted On2016-08-02