Incidental Mutation 'IGL01665:Rps6kc1'
ID103297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kc1
Ensembl Gene ENSMUSG00000089872
Gene Nameribosomal protein S6 kinase polypeptide 1
SynonymsRPK118
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.328) question?
Stock #IGL01665
Quality Score
Status
Chromosome1
Chromosomal Location190700202-190911770 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 190911657 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000124383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061611] [ENSMUST00000159066] [ENSMUST00000159367] [ENSMUST00000159624]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061611
AA Change: T2A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: T2A

DomainStartEndE-ValueType
PX 9 128 1.26e-13 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 198 211 N/A INTRINSIC
MIT 235 313 1.12e-20 SMART
low complexity region 317 332 N/A INTRINSIC
SCOP:d1apme_ 347 417 2e-5 SMART
low complexity region 443 454 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
Pfam:Pkinase 863 1046 4.4e-26 PFAM
Pfam:Pkinase_Tyr 876 1032 5.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159066
AA Change: T2A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124558
Gene: ENSMUSG00000089872
AA Change: T2A

DomainStartEndE-ValueType
PX 9 116 1.36e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159367
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872
AA Change: T2A

DomainStartEndE-ValueType
Blast:PX 9 50 4e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159624
AA Change: T2A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: T2A

DomainStartEndE-ValueType
PX 9 128 1.26e-13 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 198 211 N/A INTRINSIC
Pfam:MIT 238 299 6.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162500
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik G T 7: 131,246,657 G847* probably null Het
Acsbg1 T A 9: 54,622,720 I231L probably benign Het
Adcyap1 T A 17: 93,200,078 V22D probably damaging Het
Adgra3 T C 5: 50,006,930 T236A possibly damaging Het
Adipor2 A T 6: 119,361,926 L122H probably benign Het
Atp1a4 T C 1: 172,246,724 I321V probably benign Het
Bhmt2 A T 13: 93,663,153 Y258* probably null Het
C230029F24Rik T A 1: 49,338,094 noncoding transcript Het
Ccpg1 T A 9: 73,005,877 F232I probably damaging Het
Cd83 A T 13: 43,801,677 T195S probably benign Het
Cfap70 G A 14: 20,403,118 T897M probably damaging Het
Cyp3a11 T A 5: 145,868,665 M181L probably benign Het
Frem2 C T 3: 53,549,662 V2090I probably benign Het
Gm45234 A G 6: 124,746,608 probably benign Het
Gm7964 T A 7: 83,757,133 noncoding transcript Het
Igsf9 T A 1: 172,492,171 C39* probably null Het
Il1rap A T 16: 26,722,713 D568V probably damaging Het
Ints7 C T 1: 191,613,219 probably benign Het
Lsamp C T 16: 42,144,012 R250* probably null Het
Oit3 T A 10: 59,438,909 D23V probably damaging Het
Pcdh17 T A 14: 84,447,002 L303Q probably damaging Het
Pcdhb1 T A 18: 37,267,397 N800K probably benign Het
Plce1 A G 19: 38,524,887 D210G probably benign Het
Plekhb2 T A 1: 34,869,330 Y152N probably damaging Het
Rbp3 T C 14: 33,956,131 S679P probably benign Het
Tmem167 T A 13: 90,098,385 S9R probably damaging Het
Xpnpep1 A T 19: 52,997,032 S522T probably benign Het
Other mutations in Rps6kc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Rps6kc1 APN 1 190773678 missense probably damaging 1.00
IGL01310:Rps6kc1 APN 1 190783625 missense probably benign 0.45
IGL01331:Rps6kc1 APN 1 190800352 missense possibly damaging 0.49
IGL01551:Rps6kc1 APN 1 190773640 missense possibly damaging 0.70
IGL02178:Rps6kc1 APN 1 190871836 missense possibly damaging 0.63
IGL02550:Rps6kc1 APN 1 190871862 missense probably damaging 1.00
IGL02986:Rps6kc1 APN 1 190834061 missense probably damaging 1.00
IGL03010:Rps6kc1 APN 1 190911606 nonsense probably null
IGL03087:Rps6kc1 APN 1 190871711 missense probably damaging 1.00
IGL03130:Rps6kc1 APN 1 190799811 missense probably damaging 1.00
IGL03264:Rps6kc1 APN 1 190871829 missense probably benign
IGL03386:Rps6kc1 APN 1 190799570 missense probably damaging 0.97
R0184:Rps6kc1 UTSW 1 190799093 missense probably null 1.00
R0280:Rps6kc1 UTSW 1 190809000 missense probably damaging 1.00
R0482:Rps6kc1 UTSW 1 190799430 missense probably benign 0.00
R0651:Rps6kc1 UTSW 1 190799496 missense possibly damaging 0.51
R0785:Rps6kc1 UTSW 1 190808945 missense probably damaging 1.00
R1398:Rps6kc1 UTSW 1 190800015 missense probably damaging 0.99
R1428:Rps6kc1 UTSW 1 190798726 missense probably damaging 1.00
R1484:Rps6kc1 UTSW 1 190799475 missense possibly damaging 0.63
R1536:Rps6kc1 UTSW 1 190871768 missense possibly damaging 0.89
R1709:Rps6kc1 UTSW 1 190800336 missense possibly damaging 0.72
R2060:Rps6kc1 UTSW 1 190810108 missense possibly damaging 0.94
R2153:Rps6kc1 UTSW 1 190798723 missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190899569 missense probably damaging 1.00
R2871:Rps6kc1 UTSW 1 190899569 missense probably damaging 1.00
R4177:Rps6kc1 UTSW 1 190800419 missense possibly damaging 0.92
R4231:Rps6kc1 UTSW 1 190808900 missense probably damaging 1.00
R4401:Rps6kc1 UTSW 1 190799958 missense probably benign 0.32
R4402:Rps6kc1 UTSW 1 190798605 intron probably benign
R4785:Rps6kc1 UTSW 1 190750188 missense probably benign 0.00
R4810:Rps6kc1 UTSW 1 190808963 missense probably damaging 1.00
R4858:Rps6kc1 UTSW 1 190800318 missense probably damaging 1.00
R4887:Rps6kc1 UTSW 1 190798694 missense probably benign 0.13
R4976:Rps6kc1 UTSW 1 190798727 missense probably damaging 0.99
R5134:Rps6kc1 UTSW 1 190773648 missense probably damaging 1.00
R5217:Rps6kc1 UTSW 1 190783605 missense probably damaging 1.00
R5350:Rps6kc1 UTSW 1 190799466 missense probably benign
R5952:Rps6kc1 UTSW 1 190885420 missense probably benign 0.05
R5979:Rps6kc1 UTSW 1 190800435 missense probably damaging 1.00
R6597:Rps6kc1 UTSW 1 190750184 missense probably benign 0.20
Posted On2014-01-21