Incidental Mutation 'R5497:Styk1'
ID501132
Institutional Source Beutler Lab
Gene Symbol Styk1
Ensembl Gene ENSMUSG00000032899
Gene Nameserine/threonine/tyrosine kinase 1
Synonyms
MMRRC Submission 043058-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #R5497 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location131299142-131353597 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 131304707 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 316 (I316N)
Ref Sequence ENSEMBL: ENSMUSP00000044098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049150] [ENSMUST00000121078]
Predicted Effect probably damaging
Transcript: ENSMUST00000049150
AA Change: I316N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: I316N

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 benign
Transcript: ENSMUST00000121078
AA Change: I227N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899
AA Change: I227N

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,165,534 M800K probably benign Het
Abca9 G A 11: 110,130,692 A1064V probably damaging Het
Acsm2 A T 7: 119,573,320 T129S possibly damaging Het
Adamts9 A T 6: 92,854,365 C755S probably damaging Het
Adarb1 T C 10: 77,325,889 D2G probably damaging Het
Apaf1 G A 10: 90,999,656 A1098V probably damaging Het
Asap3 A G 4: 136,239,222 H537R probably benign Het
Atp2a2 C T 5: 122,458,169 C887Y probably damaging Het
Atp6v0a1 G A 11: 101,029,185 V215M probably damaging Het
Cacng8 A G 7: 3,415,553 E407G probably benign Het
Capn8 G A 1: 182,620,180 E535K probably benign Het
Cebpe A G 14: 54,710,595 F264L probably benign Het
Ces1c A C 8: 93,130,715 N79K possibly damaging Het
Cfap58 T G 19: 48,029,109 S803A probably benign Het
Cpa1 A G 6: 30,640,730 T124A probably benign Het
Csmd1 A G 8: 16,085,181 S1654P probably benign Het
Dmbt1 A T 7: 131,063,403 probably benign Het
Eif3e T C 15: 43,270,970 Y127C probably damaging Het
Fam160b1 G C 19: 57,381,151 probably null Het
Galnt5 T C 2: 58,025,328 M632T probably damaging Het
Gja8 A G 3: 96,920,197 S50P probably damaging Het
Gon7 A G 12: 102,754,104 S90P probably benign Het
Gucy2g C T 19: 55,198,701 V1096I probably benign Het
Gxylt2 A G 6: 100,787,329 N325S probably benign Het
H2-Ob A G 17: 34,241,170 D85G probably benign Het
Heatr1 T A 13: 12,421,064 I1161N possibly damaging Het
Hjurp G A 1: 88,266,320 H289Y possibly damaging Het
Hsd3b7 A G 7: 127,801,888 Y99C probably damaging Het
Ifnar1 T G 16: 91,505,364 Y21D probably benign Het
Isoc2b C T 7: 4,850,783 V131I probably benign Het
Klc3 T C 7: 19,394,670 I500V probably benign Het
Lrp5 C A 19: 3,602,319 G1184W probably damaging Het
Map2k4 A G 11: 65,735,205 I136T probably damaging Het
Map3k7 T C 4: 31,991,719 F319S possibly damaging Het
Muc5ac A G 7: 141,807,643 T1564A probably damaging Het
Nptx2 A T 5: 144,556,189 D362V probably damaging Het
Nutf2-ps1 A T 19: 53,588,834 I52N probably damaging Het
Olfr169 C T 16: 19,566,330 M184I probably benign Het
Pkhd1 T A 1: 20,377,404 Y2255F possibly damaging Het
Primpol A T 8: 46,592,622 Y308* probably null Het
Retreg2 G A 1: 75,144,989 V219I probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rph3a T A 5: 120,942,190 E675V probably benign Het
Ryr2 A T 13: 11,705,701 M2687K probably null Het
Shank2 A G 7: 144,409,534 D293G probably damaging Het
Snx6 A G 12: 54,757,061 V154A probably damaging Het
Srm G T 4: 148,594,109 Q264H probably benign Het
Syne2 A G 12: 75,880,389 N103S probably benign Het
Tas2r105 G A 6: 131,686,842 probably null Het
Tbcel T A 9: 42,451,745 M1L possibly damaging Het
Tlr3 C T 8: 45,398,814 D349N possibly damaging Het
Tm9sf3 T C 19: 41,215,116 S574G probably benign Het
Usp31 A T 7: 121,651,601 V783E probably damaging Het
Vmn2r61 T A 7: 42,275,482 Y487N possibly damaging Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Zfp980 A G 4: 145,701,447 K249E probably damaging Het
Other mutations in Styk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Styk1 APN 6 131301662 missense possibly damaging 0.75
IGL01370:Styk1 APN 6 131301652 missense probably damaging 1.00
IGL01833:Styk1 APN 6 131302366 splice site probably benign
IGL02705:Styk1 APN 6 131312583 missense probably benign 0.02
IGL03029:Styk1 APN 6 131300560 missense probably benign 0.27
conviction UTSW 6 131312576 missense probably benign 0.01
will UTSW 6 131312917 critical splice donor site probably null
R0201:Styk1 UTSW 6 131301730 splice site probably benign
R2267:Styk1 UTSW 6 131312576 missense probably benign 0.01
R2268:Styk1 UTSW 6 131312576 missense probably benign 0.01
R2269:Styk1 UTSW 6 131312576 missense probably benign 0.01
R2919:Styk1 UTSW 6 131313004 start gained probably benign
R3153:Styk1 UTSW 6 131310012 nonsense probably null
R3154:Styk1 UTSW 6 131310012 nonsense probably null
R4041:Styk1 UTSW 6 131312917 critical splice donor site probably null
R4650:Styk1 UTSW 6 131300569 missense probably damaging 1.00
R4739:Styk1 UTSW 6 131300466 missense probably damaging 1.00
R5079:Styk1 UTSW 6 131301713 missense probably damaging 1.00
R5637:Styk1 UTSW 6 131300418 missense possibly damaging 0.82
R6137:Styk1 UTSW 6 131311016 missense probably damaging 1.00
R6429:Styk1 UTSW 6 131310064 missense possibly damaging 0.93
R7522:Styk1 UTSW 6 131312840 intron probably null
R8188:Styk1 UTSW 6 131304885 missense probably benign 0.43
X0021:Styk1 UTSW 6 131307069 critical splice donor site probably null
X0026:Styk1 UTSW 6 131310939 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTAGTCCCATGCCCTAAAGG -3'
(R):5'- GAATTCCTGCAGGAGAAGCACC -3'

Sequencing Primer
(F):5'- GTAGTCCCATGCCCTAAAGGTTAAAG -3'
(R):5'- CAGGAGAAGCACCTGTTTCATG -3'
Posted On2017-12-01