Incidental Mutation 'R7522:Styk1'
ID 585940
Institutional Source Beutler Lab
Gene Symbol Styk1
Ensembl Gene ENSMUSG00000032899
Gene Name serine/threonine/tyrosine kinase 1
Synonyms
MMRRC Submission 045594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R7522 (G1)
Quality Score 222.009
Status Validated
Chromosome 6
Chromosomal Location 131276096-131330532 bp(-) (GRCm39)
Type of Mutation splice site (79 bp from exon)
DNA Base Change (assembly) T to A at 131289803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049150] [ENSMUST00000121078]
AlphaFold Q6J9G1
Predicted Effect probably null
Transcript: ENSMUST00000049150
SMART Domains Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Pkinase 119 387 3.2e-31 PFAM
Pfam:Pkinase_Tyr 119 387 1.8e-59 PFAM
low complexity region 399 410 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000121078
SMART Domains Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Pkinase_Tyr 67 298 2.5e-53 PFAM
Pfam:Pkinase 68 298 5.7e-29 PFAM
low complexity region 310 321 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (75/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030014E15Rik G T 1: 82,902,949 (GRCm39) C82F unknown Het
Adam21 G C 12: 81,605,722 (GRCm39) T680R possibly damaging Het
Adgrf4 A C 17: 42,980,675 (GRCm39) Y137D probably benign Het
Ago3 T C 4: 126,257,600 (GRCm39) K477R probably benign Het
Ahnak T A 19: 8,979,686 (GRCm39) D323E probably benign Het
Amph A G 13: 19,270,715 (GRCm39) D108G probably damaging Het
Ankrd10 A T 8: 11,682,910 (GRCm39) C106S probably damaging Het
Bmp5 A T 9: 75,683,384 (GRCm39) T4S probably benign Het
Brix1 G A 15: 10,476,676 (GRCm39) R267C probably damaging Het
Calcrl G A 2: 84,203,708 (GRCm39) S24L probably benign Het
Ccdc40 T G 11: 119,123,047 (GRCm39) I213R possibly damaging Het
Cd300lg A G 11: 101,945,028 (GRCm39) I413V probably benign Het
Cdh3 G A 8: 107,268,005 (GRCm39) D347N probably damaging Het
Clcn3 T C 8: 61,394,446 (GRCm39) T55A probably benign Het
Cnga4 A G 7: 105,055,195 (GRCm39) T260A probably damaging Het
Cpne8 G T 15: 90,486,022 (GRCm39) P147Q probably benign Het
Cpsf6 A G 10: 117,203,734 (GRCm39) Y74H unknown Het
Cryl1 A T 14: 57,513,428 (GRCm39) S264R probably benign Het
Cyp39a1 C T 17: 43,978,370 (GRCm39) probably benign Het
Cyp4f39 T C 17: 32,705,946 (GRCm39) S346P probably damaging Het
Cyria A G 12: 12,408,057 (GRCm39) T28A possibly damaging Het
Ddhd1 G A 14: 45,895,104 (GRCm39) A122V possibly damaging Het
Dnmt1 C A 9: 20,831,498 (GRCm39) C662F probably damaging Het
E2f6 G A 12: 16,872,125 (GRCm39) G190S probably benign Het
Esp34 A T 17: 38,870,432 (GRCm39) I109F possibly damaging Het
Espl1 A T 15: 102,213,486 (GRCm39) D604V probably damaging Het
Exo1 T C 1: 175,728,870 (GRCm39) C645R probably benign Het
Fah A G 7: 84,246,282 (GRCm39) V189A probably benign Het
Fam184b A C 5: 45,688,093 (GRCm39) Y939D probably damaging Het
Fchsd2 T A 7: 100,908,829 (GRCm39) L410* probably null Het
Gak A T 5: 108,739,065 (GRCm39) I665N possibly damaging Het
Galnt9 A G 5: 110,743,705 (GRCm39) probably null Het
Gcg T C 2: 62,306,103 (GRCm39) R165G probably benign Het
Hexd T C 11: 121,108,923 (GRCm39) V214A possibly damaging Het
Hoxb3 A T 11: 96,235,507 (GRCm39) S145C probably damaging Het
Il18 A G 9: 50,486,640 (GRCm39) Y23C probably damaging Het
Itgav A T 2: 83,632,373 (GRCm39) I954F probably benign Het
Kcna4 A G 2: 107,126,600 (GRCm39) R445G probably damaging Het
Kyat3 T A 3: 142,440,305 (GRCm39) L343Q probably damaging Het
Lgals4 A T 7: 28,537,117 (GRCm39) D139V possibly damaging Het
Lrp3 C T 7: 34,903,755 (GRCm39) G197D probably damaging Het
Lyst T A 13: 13,821,668 (GRCm39) C1347* probably null Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map3k4 T C 17: 12,480,219 (GRCm39) Q661R probably benign Het
Marcks A C 10: 37,012,577 (GRCm39) F153V unknown Het
Mocs1 T C 17: 49,742,292 (GRCm39) probably null Het
Naa60 A G 16: 3,719,768 (GRCm39) T232A probably benign Het
Oosp1 A T 19: 11,666,065 (GRCm39) I75N probably benign Het
Opn3 A G 1: 175,493,189 (GRCm39) V125A probably benign Het
Or2ag18 A G 7: 106,404,994 (GRCm39) V225A probably damaging Het
Or2f1 T A 6: 42,721,568 (GRCm39) I199N probably damaging Het
Or4c102 A G 2: 88,423,005 (GRCm39) T286A possibly damaging Het
Or7g27 T A 9: 19,250,294 (GRCm39) C179* probably null Het
Palb2 T C 7: 121,712,501 (GRCm39) T947A probably damaging Het
Pde5a C T 3: 122,634,648 (GRCm39) R730* probably null Het
Plcl1 T C 1: 55,735,523 (GRCm39) I288T probably benign Het
Plxnb2 A G 15: 89,045,977 (GRCm39) I966T probably benign Het
Prkcz T C 4: 155,355,742 (GRCm39) E400G probably damaging Het
Prpf8 A G 11: 75,400,102 (GRCm39) D2332G possibly damaging Het
Ptgds T G 2: 25,357,920 (GRCm39) T154P probably benign Het
Rel T C 11: 23,720,676 (GRCm39) probably null Het
Rxylt1 A G 10: 121,917,344 (GRCm39) W390R probably damaging Het
Serpinb1c T A 13: 33,066,200 (GRCm39) K248N probably benign Het
Shkbp1 A C 7: 27,046,583 (GRCm39) W394G possibly damaging Het
Slc47a2 A G 11: 61,193,076 (GRCm39) V559A probably benign Het
Sox6 A T 7: 115,400,813 (GRCm39) F10I probably damaging Het
Stkld1 T C 2: 26,837,259 (GRCm39) V303A probably benign Het
Tet1 T C 10: 62,654,762 (GRCm39) T1574A possibly damaging Het
Tkt A T 14: 30,290,180 (GRCm39) I270F possibly damaging Het
Trak1 A G 9: 121,271,777 (GRCm39) E166G probably damaging Het
Tsc2 A T 17: 24,849,939 (GRCm39) I58N probably damaging Het
Uhmk1 T A 1: 170,042,809 (GRCm39) M1L probably benign Het
Usp50 T C 2: 126,625,146 (GRCm39) Y21C probably damaging Het
Vmn1r180 C G 7: 23,652,685 (GRCm39) P283A probably damaging Het
Vmn1r83 A G 7: 12,055,505 (GRCm39) M184T possibly damaging Het
Vmn2r109 A G 17: 20,774,665 (GRCm39) I230T probably benign Het
Other mutations in Styk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Styk1 APN 6 131,278,625 (GRCm39) missense possibly damaging 0.75
IGL01370:Styk1 APN 6 131,278,615 (GRCm39) missense probably damaging 1.00
IGL01833:Styk1 APN 6 131,279,329 (GRCm39) splice site probably benign
IGL02705:Styk1 APN 6 131,289,546 (GRCm39) missense probably benign 0.02
IGL03029:Styk1 APN 6 131,277,523 (GRCm39) missense probably benign 0.27
conviction UTSW 6 131,289,539 (GRCm39) missense probably benign 0.01
will UTSW 6 131,289,880 (GRCm39) critical splice donor site probably null
R0201:Styk1 UTSW 6 131,278,693 (GRCm39) splice site probably benign
R2267:Styk1 UTSW 6 131,289,539 (GRCm39) missense probably benign 0.01
R2268:Styk1 UTSW 6 131,289,539 (GRCm39) missense probably benign 0.01
R2269:Styk1 UTSW 6 131,289,539 (GRCm39) missense probably benign 0.01
R2919:Styk1 UTSW 6 131,289,967 (GRCm39) start gained probably benign
R3153:Styk1 UTSW 6 131,286,975 (GRCm39) nonsense probably null
R3154:Styk1 UTSW 6 131,286,975 (GRCm39) nonsense probably null
R4041:Styk1 UTSW 6 131,289,880 (GRCm39) critical splice donor site probably null
R4650:Styk1 UTSW 6 131,277,532 (GRCm39) missense probably damaging 1.00
R4739:Styk1 UTSW 6 131,277,429 (GRCm39) missense probably damaging 1.00
R5079:Styk1 UTSW 6 131,278,676 (GRCm39) missense probably damaging 1.00
R5497:Styk1 UTSW 6 131,281,670 (GRCm39) missense probably damaging 0.97
R5637:Styk1 UTSW 6 131,277,381 (GRCm39) missense possibly damaging 0.82
R6137:Styk1 UTSW 6 131,287,979 (GRCm39) missense probably damaging 1.00
R6429:Styk1 UTSW 6 131,287,027 (GRCm39) missense possibly damaging 0.93
R8188:Styk1 UTSW 6 131,281,848 (GRCm39) missense probably benign 0.43
R9255:Styk1 UTSW 6 131,286,946 (GRCm39) missense probably damaging 1.00
R9704:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9705:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9712:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9714:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9715:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9725:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9725:Styk1 UTSW 6 131,278,610 (GRCm39) small deletion probably benign
R9750:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9751:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9752:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9753:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9771:Styk1 UTSW 6 131,278,612 (GRCm39) small deletion probably benign
R9778:Styk1 UTSW 6 131,287,992 (GRCm39) nonsense probably null
X0021:Styk1 UTSW 6 131,284,032 (GRCm39) critical splice donor site probably null
X0026:Styk1 UTSW 6 131,287,902 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGGGATAGAAGTAAGAATCCTGCC -3'
(R):5'- ATCCTCTGTGCGCCTAACAG -3'

Sequencing Primer
(F):5'- TAGAAGTAAGAATCCTGCCACAGTTC -3'
(R):5'- CTAACAGAGGAGGTTGGCCCTG -3'
Posted On 2019-10-18