Incidental Mutation 'IGL01522:Syk'
ID 89435
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 # IGL01522
Quality Score
Status
Chromosome 13
Chromosomal Location 52737209-52802828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52797097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 576 (T576A)
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
AA Change: T576A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: T576A

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
AA Change: T553A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: T553A

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
AA Change: T576A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: T576A

DomainStartEndE-ValueType
SH2 12 97 4.51e-26 SMART
SH2 165 249 5.06e-29 SMART
TyrKc 365 620 7.61e-120 SMART
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Apcdd1 T A 18: 63,085,186 (GRCm39) M461K possibly damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Mmp7 T C 9: 7,692,229 (GRCm39) W35R probably damaging Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or52b4 A T 7: 102,184,391 (GRCm39) I146F probably damaging Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pfn4 A G 12: 4,820,240 (GRCm39) T30A probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Sdf2l1 T A 16: 16,950,014 (GRCm39) H54L probably damaging Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Syk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Syk APN 13 52,778,784 (GRCm39) missense probably benign 0.00
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
IGL02824:Syk APN 13 52,777,319 (GRCm39) splice site probably benign
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 2013-12-03