Incidental Mutation 'IGL02824:Syk'
ID 361144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syk
Ensembl Gene ENSMUSG00000021457
Gene Name spleen tyrosine kinase
Synonyms Sykb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02824
Quality Score
Status
Chromosome 13
Chromosomal Location 52737209-52802828 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 52777319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055087] [ENSMUST00000118756] [ENSMUST00000120135]
AlphaFold P48025
PDB Structure Solution structure of the Vav1 SH2 domain complexed with a Syk-derived doubly phosphorylated peptide [SOLUTION NMR]
Solution structure of the Vav1 SH2 domain complexed with a Syk-derived singly phosphorylated peptide [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000055087
SMART Domains Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457

DomainStartEndE-ValueType
SH2 12 97 4.51e-26 SMART
SH2 165 249 5.06e-29 SMART
TyrKc 365 620 7.61e-120 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118756
SMART Domains Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457

DomainStartEndE-ValueType
SH2 12 97 4.51e-26 SMART
SH2 165 249 5.06e-29 SMART
TyrKc 342 582 2.68e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120135
SMART Domains Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457

DomainStartEndE-ValueType
SH2 12 97 4.51e-26 SMART
SH2 165 249 5.06e-29 SMART
TyrKc 365 620 7.61e-120 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140339
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 member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,596,112 (GRCm39) probably benign Het
Aadat A T 8: 60,969,056 (GRCm39) K93N probably benign Het
Abcb5 A G 12: 118,854,420 (GRCm39) F832L probably benign Het
Abl1 A T 2: 31,690,831 (GRCm39) K783N probably damaging Het
Agxt2 A G 15: 10,393,891 (GRCm39) E423G probably null Het
Alkbh8 T C 9: 3,368,021 (GRCm39) probably null Het
Ankrd36 T C 11: 5,524,246 (GRCm39) I171T possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Cd19 T C 7: 126,009,826 (GRCm39) D446G probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,687,659 (GRCm39) probably null Het
Ehbp1l1 T C 19: 5,769,326 (GRCm39) D659G probably benign Het
Eif3l A G 15: 78,960,023 (GRCm39) probably null Het
F5 T C 1: 164,021,916 (GRCm39) S1464P probably benign Het
Fut9 T C 4: 25,620,037 (GRCm39) N259S probably damaging Het
Glb1l3 A T 9: 26,761,405 (GRCm39) I209N probably damaging Het
Gpd2 A G 2: 57,254,339 (GRCm39) E671G probably null Het
Heatr5b T C 17: 79,081,109 (GRCm39) D1381G probably damaging Het
Ifi206 A T 1: 173,309,438 (GRCm39) I186K possibly damaging Het
Izumo1 A G 7: 45,275,072 (GRCm39) D236G probably benign Het
Klhl32 T A 4: 24,682,237 (GRCm39) R149* probably null Het
Lrrn1 T C 6: 107,545,495 (GRCm39) F431S possibly damaging Het
Man2b2 C T 5: 36,979,195 (GRCm39) V282I probably benign Het
Mboat2 A G 12: 24,996,585 (GRCm39) K164R probably benign Het
Mgarp T C 3: 51,296,508 (GRCm39) T165A probably damaging Het
Midn T G 10: 79,989,486 (GRCm39) I43S possibly damaging Het
Ndn A G 7: 61,998,582 (GRCm39) I143V possibly damaging Het
Or6c69 T C 10: 129,747,565 (GRCm39) E194G probably damaging Het
Or8h9 T C 2: 86,789,337 (GRCm39) D155G probably benign Het
Pcnx4 T C 12: 72,602,345 (GRCm39) V278A probably benign Het
Prr30 A G 14: 101,435,954 (GRCm39) F203L probably benign Het
Scd4 T C 19: 44,329,698 (GRCm39) L223P probably damaging Het
Setdb1 T C 3: 95,247,215 (GRCm39) probably benign Het
Smtn A G 11: 3,482,658 (GRCm39) Y105H probably damaging Het
Spata19 A G 9: 27,309,025 (GRCm39) I54M possibly damaging Het
Trim44 A G 2: 102,230,540 (GRCm39) F164L possibly damaging Het
Zfp503 C T 14: 22,035,162 (GRCm39) G585S possibly damaging Het
Other mutations in Syk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Syk APN 13 52,778,784 (GRCm39) missense probably benign 0.00
IGL01522:Syk APN 13 52,797,097 (GRCm39) missense probably benign
IGL01957:Syk APN 13 52,785,776 (GRCm39) missense probably benign
IGL01962:Syk APN 13 52,764,993 (GRCm39) missense probably damaging 1.00
IGL02613:Syk APN 13 52,797,076 (GRCm39) missense probably damaging 0.97
IGL03130:Syk APN 13 52,776,768 (GRCm39) missense probably benign 0.12
Apricot UTSW 13 52,794,769 (GRCm39) missense probably damaging 1.00
Poppy UTSW 13 52,794,769 (GRCm39) missense probably damaging 1.00
Sisyphus UTSW 13 52,794,826 (GRCm39) missense probably damaging 1.00
H8562:Syk UTSW 13 52,794,657 (GRCm39) missense probably damaging 1.00
R0091:Syk UTSW 13 52,794,769 (GRCm39) missense probably damaging 1.00
R0346:Syk UTSW 13 52,794,695 (GRCm39) missense probably damaging 1.00
R1888:Syk UTSW 13 52,794,826 (GRCm39) missense probably damaging 1.00
R1888:Syk UTSW 13 52,794,826 (GRCm39) missense probably damaging 1.00
R1917:Syk UTSW 13 52,776,744 (GRCm39) missense probably damaging 1.00
R2001:Syk UTSW 13 52,765,274 (GRCm39) missense probably benign 0.21
R2919:Syk UTSW 13 52,765,157 (GRCm39) missense probably benign
R3413:Syk UTSW 13 52,785,775 (GRCm39) missense probably benign
R3695:Syk UTSW 13 52,776,801 (GRCm39) splice site probably null
R4363:Syk UTSW 13 52,794,766 (GRCm39) missense probably damaging 1.00
R4754:Syk UTSW 13 52,766,295 (GRCm39) intron probably benign
R4755:Syk UTSW 13 52,796,022 (GRCm39) missense probably benign 0.25
R4806:Syk UTSW 13 52,786,963 (GRCm39) missense probably benign 0.14
R4817:Syk UTSW 13 52,765,242 (GRCm39) missense probably benign 0.03
R4903:Syk UTSW 13 52,765,117 (GRCm39) missense probably damaging 1.00
R4997:Syk UTSW 13 52,766,484 (GRCm39) nonsense probably null
R5066:Syk UTSW 13 52,796,018 (GRCm39) missense possibly damaging 0.49
R5114:Syk UTSW 13 52,765,071 (GRCm39) missense probably damaging 1.00
R5267:Syk UTSW 13 52,795,962 (GRCm39) missense probably benign 0.05
R5323:Syk UTSW 13 52,785,753 (GRCm39) missense probably benign 0.00
R5705:Syk UTSW 13 52,765,083 (GRCm39) missense probably benign 0.03
R6190:Syk UTSW 13 52,765,089 (GRCm39) missense probably damaging 0.97
R6892:Syk UTSW 13 52,786,934 (GRCm39) missense probably benign 0.00
R6932:Syk UTSW 13 52,766,495 (GRCm39) splice site probably null
R6977:Syk UTSW 13 52,787,094 (GRCm39) missense probably benign 0.00
R7496:Syk UTSW 13 52,766,452 (GRCm39) missense probably benign
R7650:Syk UTSW 13 52,765,131 (GRCm39) missense probably benign 0.24
R8081:Syk UTSW 13 52,792,195 (GRCm39) missense probably benign 0.00
R8199:Syk UTSW 13 52,778,768 (GRCm39) missense probably benign 0.00
R8350:Syk UTSW 13 52,774,935 (GRCm39) missense probably damaging 1.00
R8381:Syk UTSW 13 52,787,085 (GRCm39) missense probably benign 0.08
R8420:Syk UTSW 13 52,778,763 (GRCm39) missense probably benign 0.02
R8450:Syk UTSW 13 52,774,935 (GRCm39) missense probably damaging 1.00
R9177:Syk UTSW 13 52,766,480 (GRCm39) missense probably benign 0.37
R9689:Syk UTSW 13 52,778,808 (GRCm39) missense probably benign
Z1177:Syk UTSW 13 52,786,949 (GRCm39) missense possibly damaging 0.91
Posted On 2015-12-18