Incidental Mutation 'R3955:Sik3'
ID 310653
Institutional Source Beutler Lab
Gene Symbol Sik3
Ensembl Gene ENSMUSG00000034135
Gene Name SIK family kinase 3
Synonyms 9030204A07Rik, 5730525O22Rik
MMRRC Submission 040832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3955 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45924118-46135492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46109891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 541 (N541K)
Ref Sequence ENSEMBL: ENSMUSP00000121032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120463] [ENSMUST00000126865]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000120247
AA Change: N445K
SMART Domains Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: N445K

DomainStartEndE-ValueType
S_TKc 19 270 5.4e-102 SMART
internal_repeat_1 349 392 8.97e-6 PROSPERO
low complexity region 436 445 N/A INTRINSIC
internal_repeat_1 492 536 8.97e-6 PROSPERO
low complexity region 602 613 N/A INTRINSIC
low complexity region 628 648 N/A INTRINSIC
low complexity region 682 693 N/A INTRINSIC
low complexity region 785 798 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120463
AA Change: N539K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: N539K

DomainStartEndE-ValueType
low complexity region 1 53 N/A INTRINSIC
S_TKc 64 315 5.4e-102 SMART
low complexity region 529 538 N/A INTRINSIC
low complexity region 647 658 N/A INTRINSIC
low complexity region 673 693 N/A INTRINSIC
low complexity region 727 738 N/A INTRINSIC
low complexity region 830 843 N/A INTRINSIC
low complexity region 894 907 N/A INTRINSIC
low complexity region 996 1011 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000122865
AA Change: N443K
SMART Domains Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: N443K

DomainStartEndE-ValueType
S_TKc 1 220 3.32e-70 SMART
low complexity region 434 443 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126865
AA Change: N541K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: N541K

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
S_TKc 66 317 5.4e-102 SMART
internal_repeat_1 444 487 1.55e-6 PROSPERO
low complexity region 531 540 N/A INTRINSIC
internal_repeat_1 587 631 1.55e-6 PROSPERO
low complexity region 697 708 N/A INTRINSIC
low complexity region 723 743 N/A INTRINSIC
low complexity region 777 788 N/A INTRINSIC
low complexity region 880 893 N/A INTRINSIC
low complexity region 944 957 N/A INTRINSIC
low complexity region 1046 1061 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153152
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired chondrocyte hypertrophy during development, neonatal lethality and reduced size. Mice homozygous for a gain of function ENU mutation exhibit decreased total wake time, owing to an increase in inherent sleep need. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,834 (GRCm39) T1008A probably benign Het
Abcc5 G C 16: 20,224,293 (GRCm39) H97D probably damaging Het
Acbd7 T C 2: 3,337,250 (GRCm39) S2P probably benign Het
Acta2 G T 19: 34,229,126 (GRCm39) probably benign Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Ajm1 G T 2: 25,467,583 (GRCm39) S776* probably null Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cd69 A T 6: 129,245,343 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dscc1 T C 15: 54,946,949 (GRCm39) T259A probably benign Het
Dsg4 G A 18: 20,582,432 (GRCm39) probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Insyn1 A T 9: 58,406,906 (GRCm39) D272V probably damaging Het
Krt20 G A 11: 99,323,037 (GRCm39) Q262* probably null Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lmod2 G T 6: 24,603,870 (GRCm39) V282L probably benign Het
Lrrc49 A G 9: 60,578,642 (GRCm39) I228T probably damaging Het
Matn1 G A 4: 130,678,726 (GRCm39) probably null Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nmt2 A G 2: 3,313,535 (GRCm39) D132G probably benign Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Obscn G A 11: 58,927,594 (GRCm39) S6118F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or1j21 T A 2: 36,683,565 (GRCm39) L106M probably benign Het
Or4c12 T A 2: 89,774,172 (GRCm39) M96L possibly damaging Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Plxnb3 T C X: 72,814,826 (GRCm39) V1789A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qrfprl A T 6: 65,430,092 (GRCm39) I263L possibly damaging Het
Rab3gap1 A G 1: 127,862,254 (GRCm39) Q675R probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Sergef T A 7: 46,268,176 (GRCm39) E210V possibly damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Tbc1d14 G A 5: 36,700,559 (GRCm39) R270* probably null Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdp2 C T 13: 25,020,082 (GRCm39) T123I probably benign Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zfp677 A G 17: 21,618,079 (GRCm39) K379E possibly damaging Het
Zfp865 T A 7: 5,035,013 (GRCm39) D999E probably damaging Het
Other mutations in Sik3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Sik3 APN 9 46,123,024 (GRCm39) missense probably benign 0.37
IGL02957:Sik3 APN 9 46,107,143 (GRCm39) missense possibly damaging 0.90
Holistic UTSW 9 46,123,539 (GRCm39) nonsense probably null
IGL03052:Sik3 UTSW 9 46,109,447 (GRCm39) missense probably damaging 0.97
PIT4515001:Sik3 UTSW 9 46,120,029 (GRCm39) missense probably damaging 1.00
R0119:Sik3 UTSW 9 46,120,038 (GRCm39) missense possibly damaging 0.81
R0299:Sik3 UTSW 9 46,120,038 (GRCm39) missense possibly damaging 0.81
R0344:Sik3 UTSW 9 46,120,109 (GRCm39) missense probably damaging 0.97
R0411:Sik3 UTSW 9 46,120,068 (GRCm39) missense probably damaging 0.99
R0499:Sik3 UTSW 9 46,120,038 (GRCm39) missense possibly damaging 0.81
R0745:Sik3 UTSW 9 46,109,537 (GRCm39) missense probably benign 0.10
R1017:Sik3 UTSW 9 46,107,107 (GRCm39) missense probably benign 0.00
R1310:Sik3 UTSW 9 46,130,724 (GRCm39) missense possibly damaging 0.81
R1355:Sik3 UTSW 9 46,107,170 (GRCm39) critical splice donor site probably benign
R1406:Sik3 UTSW 9 46,034,643 (GRCm39) splice site probably benign
R1457:Sik3 UTSW 9 46,132,446 (GRCm39) missense probably damaging 1.00
R1497:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R1497:Sik3 UTSW 9 46,113,320 (GRCm39) missense probably damaging 1.00
R1852:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R1883:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R1884:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R1903:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R1918:Sik3 UTSW 9 46,132,387 (GRCm39) missense probably benign 0.00
R2077:Sik3 UTSW 9 46,130,801 (GRCm39) missense probably damaging 1.00
R2379:Sik3 UTSW 9 46,066,707 (GRCm39) missense probably damaging 1.00
R3791:Sik3 UTSW 9 46,106,120 (GRCm39) missense possibly damaging 0.94
R3809:Sik3 UTSW 9 46,130,784 (GRCm39) missense probably benign 0.05
R3980:Sik3 UTSW 9 46,113,361 (GRCm39) missense probably damaging 1.00
R4753:Sik3 UTSW 9 46,109,512 (GRCm39) missense probably damaging 0.99
R5195:Sik3 UTSW 9 46,120,142 (GRCm39) critical splice donor site probably null
R5256:Sik3 UTSW 9 46,123,552 (GRCm39) missense probably damaging 0.99
R5432:Sik3 UTSW 9 46,034,539 (GRCm39) missense probably benign 0.45
R5985:Sik3 UTSW 9 46,122,973 (GRCm39) missense probably damaging 1.00
R6310:Sik3 UTSW 9 46,089,784 (GRCm39) missense probably damaging 1.00
R6540:Sik3 UTSW 9 46,123,351 (GRCm39) missense probably benign
R6732:Sik3 UTSW 9 46,123,851 (GRCm39) missense probably benign 0.02
R6812:Sik3 UTSW 9 46,122,067 (GRCm39) missense probably damaging 1.00
R7069:Sik3 UTSW 9 46,122,041 (GRCm39) missense probably damaging 1.00
R7830:Sik3 UTSW 9 46,123,355 (GRCm39) small deletion probably benign
R7875:Sik3 UTSW 9 46,034,528 (GRCm39) missense probably damaging 1.00
R8558:Sik3 UTSW 9 46,066,746 (GRCm39) missense probably damaging 1.00
R8806:Sik3 UTSW 9 46,120,365 (GRCm39) missense probably damaging 0.96
R8812:Sik3 UTSW 9 46,089,811 (GRCm39) missense probably benign 0.40
R9063:Sik3 UTSW 9 46,123,735 (GRCm39) missense probably benign 0.36
R9159:Sik3 UTSW 9 46,123,539 (GRCm39) nonsense probably null
R9223:Sik3 UTSW 9 46,066,772 (GRCm39) missense probably damaging 0.99
R9232:Sik3 UTSW 9 46,123,216 (GRCm39) missense probably benign 0.00
R9489:Sik3 UTSW 9 46,120,117 (GRCm39) missense probably benign 0.08
R9605:Sik3 UTSW 9 46,120,117 (GRCm39) missense probably benign 0.08
R9660:Sik3 UTSW 9 46,106,142 (GRCm39) missense possibly damaging 0.86
R9728:Sik3 UTSW 9 46,106,142 (GRCm39) missense possibly damaging 0.86
X0017:Sik3 UTSW 9 46,123,797 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGAGAGTTTCCTGAGGG -3'
(R):5'- GGTATTTCAGCCAAGTCCAGC -3'

Sequencing Primer
(F):5'- GGAGTTCCCTTCTGTAAACTGCTG -3'
(R):5'- AAGTCCAGCCCCTTTATTACAG -3'
Posted On 2015-04-29