Incidental Mutation 'IGL02389:Tyro3'
ID 291701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyro3
Ensembl Gene ENSMUSG00000027298
Gene Name TYRO3 protein tyrosine kinase 3
Synonyms Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02389
Quality Score
Status
Chromosome 2
Chromosomal Location 119628221-119648585 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 119635345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028763] [ENSMUST00000110783]
AlphaFold P55144
Predicted Effect probably benign
Transcript: ENSMUST00000028763
SMART Domains Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
IGc2 45 114 1.29e-15 SMART
IG 135 212 1.3e-2 SMART
FN3 215 297 1.5e-5 SMART
FN3 313 393 1.9e0 SMART
transmembrane domain 419 441 N/A INTRINSIC
TyrKc 508 776 1.18e-125 SMART
low complexity region 817 832 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110783
SMART Domains Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298

DomainStartEndE-ValueType
IGc2 41 110 1.29e-15 SMART
IG 131 208 1.3e-2 SMART
FN3 211 293 1.5e-5 SMART
FN3 309 389 1.9e0 SMART
transmembrane domain 415 437 N/A INTRINSIC
TyrKc 504 772 1.18e-125 SMART
low complexity region 813 828 N/A INTRINSIC
low complexity region 861 871 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148343
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Tyro3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Tyro3 APN 2 119,643,681 (GRCm39) missense probably damaging 1.00
IGL02221:Tyro3 APN 2 119,643,071 (GRCm39) missense probably benign 0.00
IGL02442:Tyro3 APN 2 119,639,349 (GRCm39) missense probably benign 0.16
PIT4382001:Tyro3 UTSW 2 119,632,845 (GRCm39) missense probably damaging 1.00
R0078:Tyro3 UTSW 2 119,647,487 (GRCm39) missense probably damaging 1.00
R0087:Tyro3 UTSW 2 119,632,182 (GRCm39) missense probably benign 0.38
R0503:Tyro3 UTSW 2 119,633,711 (GRCm39) splice site probably benign
R0551:Tyro3 UTSW 2 119,647,385 (GRCm39) missense probably damaging 1.00
R1858:Tyro3 UTSW 2 119,632,176 (GRCm39) missense possibly damaging 0.95
R1902:Tyro3 UTSW 2 119,632,176 (GRCm39) missense possibly damaging 0.73
R1980:Tyro3 UTSW 2 119,639,298 (GRCm39) missense probably benign
R2294:Tyro3 UTSW 2 119,636,126 (GRCm39) missense probably damaging 0.99
R3877:Tyro3 UTSW 2 119,643,774 (GRCm39) missense probably damaging 0.98
R4651:Tyro3 UTSW 2 119,647,349 (GRCm39) missense probably benign 0.01
R4652:Tyro3 UTSW 2 119,647,349 (GRCm39) missense probably benign 0.01
R4698:Tyro3 UTSW 2 119,633,751 (GRCm39) missense probably damaging 1.00
R4757:Tyro3 UTSW 2 119,641,419 (GRCm39) missense probably damaging 1.00
R4894:Tyro3 UTSW 2 119,632,779 (GRCm39) missense probably damaging 0.96
R5193:Tyro3 UTSW 2 119,640,998 (GRCm39) missense probably damaging 1.00
R5366:Tyro3 UTSW 2 119,635,312 (GRCm39) missense probably damaging 1.00
R5693:Tyro3 UTSW 2 119,641,349 (GRCm39) missense probably damaging 1.00
R6017:Tyro3 UTSW 2 119,647,147 (GRCm39) missense probably damaging 1.00
R6110:Tyro3 UTSW 2 119,643,304 (GRCm39) missense probably damaging 1.00
R6160:Tyro3 UTSW 2 119,633,751 (GRCm39) missense probably damaging 0.98
R6290:Tyro3 UTSW 2 119,647,321 (GRCm39) missense probably benign
R6293:Tyro3 UTSW 2 119,638,481 (GRCm39) missense possibly damaging 0.89
R6366:Tyro3 UTSW 2 119,647,156 (GRCm39) missense probably damaging 0.96
R6712:Tyro3 UTSW 2 119,635,335 (GRCm39) missense probably null 0.44
R7645:Tyro3 UTSW 2 119,647,387 (GRCm39) missense probably damaging 1.00
R9378:Tyro3 UTSW 2 119,642,648 (GRCm39) missense probably damaging 1.00
R9541:Tyro3 UTSW 2 119,642,589 (GRCm39) missense possibly damaging 0.47
Z1088:Tyro3 UTSW 2 119,639,948 (GRCm39) missense probably benign 0.31
Z1177:Tyro3 UTSW 2 119,640,472 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16