Incidental Mutation 'IGL02613:Syk'
ID 300557
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 # IGL02613
Quality Score
Status
Chromosome 13
Chromosomal Location 52737209-52802828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52797076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 546 (G546R)
Ref Sequence ENSEMBL: ENSMUSP00000112914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055087] [ENSMUST00000118756] [ENSMUST00000120135]
AlphaFold P48025
Predicted Effect possibly damaging
Transcript: ENSMUST00000055087
AA Change: G569R

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: G569R

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 damaging
Transcript: ENSMUST00000118756
AA Change: G546R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: G546R

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 possibly damaging
Transcript: ENSMUST00000120135
AA Change: G569R

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: G569R

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,655,833 (GRCm39) I549L possibly damaging Het
Arhgef17 A T 7: 100,578,103 (GRCm39) H948Q probably damaging Het
Auh A G 13: 53,073,035 (GRCm39) probably null Het
Btf3 A G 13: 98,446,714 (GRCm39) probably benign Het
Capg A G 6: 72,532,594 (GRCm39) N53S probably damaging Het
Cfap70 T C 14: 20,459,132 (GRCm39) probably null Het
Chrna5 A T 9: 54,913,705 (GRCm39) E417V probably damaging Het
Coch A G 12: 51,642,132 (GRCm39) T35A possibly damaging Het
Dock4 T A 12: 40,860,465 (GRCm39) L1284M probably damaging Het
Etv3 A G 3: 87,443,702 (GRCm39) T429A possibly damaging Het
Fmnl2 T C 2: 52,963,747 (GRCm39) probably null Het
Glb1 A G 9: 114,293,130 (GRCm39) T502A possibly damaging Het
Greb1 C A 12: 16,789,889 (GRCm39) probably null Het
Hspg2 A G 4: 137,271,731 (GRCm39) Y2499C probably damaging Het
Kcnq1 A T 7: 142,979,863 (GRCm39) probably benign Het
Lrriq1 A G 10: 102,980,409 (GRCm39) S1497P probably damaging Het
Magel2 G A 7: 62,029,946 (GRCm39) R950H unknown Het
Mcc A G 18: 44,563,021 (GRCm39) L982P probably damaging Het
Naif1 T A 2: 32,345,172 (GRCm39) M292K possibly damaging Het
Npb T A 11: 120,499,716 (GRCm39) C99S probably damaging Het
Obscn G T 11: 58,892,958 (GRCm39) R6763S probably benign Het
Or13a21 A G 7: 139,999,383 (GRCm39) V101A probably benign Het
Or5p56 C T 7: 107,590,381 (GRCm39) Q270* probably null Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnm3 A T 11: 71,948,898 (GRCm39) S736T probably damaging Het
Polr1a A T 6: 71,944,304 (GRCm39) E1257V probably damaging Het
Sec63 G A 10: 42,677,703 (GRCm39) D270N probably damaging Het
Snrnp200 C T 2: 127,060,346 (GRCm39) T530I probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Tfap2d T A 1: 19,189,415 (GRCm39) L265Q probably damaging Het
Trav12-1 C T 14: 53,775,742 (GRCm39) S9L possibly damaging Het
Trerf1 T C 17: 47,659,766 (GRCm39) noncoding transcript Het
Ttn T A 2: 76,558,704 (GRCm39) I29726L possibly damaging Het
Usp18 A G 6: 121,238,049 (GRCm39) T143A probably benign Het
Usp32 A T 11: 84,930,896 (GRCm39) N511K probably damaging Het
Wdr64 C T 1: 175,594,613 (GRCm39) Q4* probably null Het
Zfp277 A G 12: 40,379,514 (GRCm39) F340S probably 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
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 2015-04-16