Incidental Mutation 'IGL03130:Syk'
ID 410271
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 # IGL03130
Quality Score
Status
Chromosome 13
Chromosomal Location 52737209-52802828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52776768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 256 (V256A)
Ref Sequence ENSEMBL: ENSMUSP00000112914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055087] [ENSMUST00000118756] [ENSMUST00000120135]
AlphaFold P48025
Predicted Effect probably benign
Transcript: ENSMUST00000055087
AA Change: V256A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: V256A

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: V256A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: V256A

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: V256A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: V256A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Hibch T C 1: 52,924,310 (GRCm39) S162P possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
LTO1 A G 7: 144,470,197 (GRCm39) E42G probably damaging Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Or7d11 C A 9: 19,966,668 (GRCm39) L30F probably benign Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
Spg21 A G 9: 65,380,990 (GRCm39) Q99R probably benign Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Tsn C T 1: 118,232,999 (GRCm39) A102T possibly damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A 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
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
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 2016-08-02