Incidental Mutation 'R1457:Sik3'
ID 158582
Institutional Source Beutler Lab
Gene Symbol Sik3
Ensembl Gene ENSMUSG00000034135
Gene Name SIK family kinase 3
Synonyms 9030204A07Rik, 5730525O22Rik
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1457 (G1)
Quality Score 191
Status Not validated
Chromosome 9
Chromosomal Location 45924118-46135492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46132446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1346 (T1346M)
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: T1190M
SMART Domains Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: T1190M

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: T1296M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: T1296M

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 probably damaging
Transcript: ENSMUST00000126865
AA Change: T1346M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: T1346M

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 probably benign
Transcript: ENSMUST00000138338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153152
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,888,683 (GRCm39) I1210F probably benign Het
Ankrd17 T C 5: 90,433,705 (GRCm39) H688R possibly damaging Het
Arhgap24 T A 5: 102,811,972 (GRCm39) N66K probably damaging Het
Atp1a1 C T 3: 101,497,782 (GRCm39) G335D probably damaging Het
Cacna1g C T 11: 94,350,381 (GRCm39) R488H possibly damaging Het
Cacna1h A T 17: 25,616,594 (GRCm39) V149E probably damaging Het
Cd22 G T 7: 30,572,595 (GRCm39) P338Q probably benign Het
Cntln G T 4: 85,015,076 (GRCm39) M1122I probably benign Het
Cntrl A G 2: 35,012,768 (GRCm39) N302S probably benign Het
Cog8 T C 8: 107,779,528 (GRCm39) R250G probably damaging Het
Cracdl A T 1: 37,665,093 (GRCm39) Y268* probably null Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Cyp2b23 G A 7: 26,372,574 (GRCm39) P347L probably damaging Het
Dnah5 T C 15: 28,403,688 (GRCm39) probably null Het
Eml6 C T 11: 29,974,459 (GRCm39) V40I probably damaging Het
Epb42 C T 2: 120,860,448 (GRCm39) probably null Het
Fcrla A G 1: 170,748,573 (GRCm39) L190P probably damaging Het
Galnt18 A T 7: 111,378,635 (GRCm39) Y40* probably null Het
Gdf7 A T 12: 8,348,073 (GRCm39) M416K probably damaging Het
Gm11232 T A 4: 71,675,156 (GRCm39) probably null Het
Gpam T A 19: 55,076,608 (GRCm39) N198Y probably damaging Het
Grip1 C T 10: 119,822,255 (GRCm39) S327F possibly damaging Het
Hey2 C T 10: 30,710,352 (GRCm39) A134T probably benign Het
Kat6a T C 8: 23,428,668 (GRCm39) I1341T probably benign Het
Kcnd3 T C 3: 105,575,502 (GRCm39) L542P probably benign Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lman2 T C 13: 55,499,064 (GRCm39) D234G probably benign Het
Map3k19 A C 1: 127,745,635 (GRCm39) I1273R probably damaging Het
Matn1 T A 4: 130,677,330 (GRCm39) F180I possibly damaging Het
Meikin T A 11: 54,261,767 (GRCm39) L61* probably null Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Myh13 T C 11: 67,221,872 (GRCm39) I199T probably damaging Het
Myh4 T A 11: 67,139,287 (GRCm39) S535T probably damaging Het
Myo5a T C 9: 75,120,347 (GRCm39) M1715T probably damaging Het
Nat8 A T 6: 85,807,971 (GRCm39) V54D probably damaging Het
Nbea A G 3: 55,992,748 (GRCm39) V286A probably damaging Het
Ndnf A G 6: 65,680,998 (GRCm39) K426E possibly damaging Het
Nup210l T A 3: 90,098,279 (GRCm39) N1410K possibly damaging Het
Oca2 A T 7: 55,971,269 (GRCm39) T399S probably damaging Het
Or10al2 A T 17: 37,983,816 (GRCm39) K301* probably null Het
Or1af1 A C 2: 37,109,671 (GRCm39) T57P possibly damaging Het
Or51a43 A T 7: 103,717,666 (GRCm39) C191S probably damaging Het
Or52h7 T A 7: 104,214,278 (GRCm39) N283K probably damaging Het
Or8c10 G A 9: 38,279,492 (GRCm39) V217I probably benign Het
Or8j3 A G 2: 86,028,596 (GRCm39) S167P probably damaging Het
Otogl A C 10: 107,714,013 (GRCm39) probably null Het
Pde4b C T 4: 102,462,373 (GRCm39) T511I probably damaging Het
Proser3 A G 7: 30,239,172 (GRCm39) probably null Het
Psmd12 G A 11: 107,370,472 (GRCm39) V24M probably damaging Het
Rbm17 A T 2: 11,598,272 (GRCm39) M170K probably benign Het
Rims2 C T 15: 39,374,710 (GRCm39) T1064I possibly damaging Het
Ripor3 C T 2: 167,834,573 (GRCm39) V281M probably damaging Het
Rreb1 C A 13: 38,130,904 (GRCm39) Q1353K possibly damaging Het
Sgo2a A G 1: 58,054,965 (GRCm39) D383G probably benign Het
Slx1b A T 7: 126,291,968 (GRCm39) V63E probably damaging Het
Son A G 16: 91,453,974 (GRCm39) D907G probably damaging Het
Src G A 2: 157,311,132 (GRCm39) V401M probably damaging Het
St3gal4 T C 9: 34,966,053 (GRCm39) K24E possibly damaging Het
Stat6 A G 10: 127,494,114 (GRCm39) K647R probably damaging Het
Tbl1xr1 G A 3: 22,247,333 (GRCm39) probably null Het
Tlk2 G A 11: 105,147,778 (GRCm39) probably null Het
Tmbim6 T A 15: 99,299,496 (GRCm39) I3K probably benign Het
Tmeff2 A T 1: 51,221,026 (GRCm39) I334F probably damaging Het
Ttn T C 2: 76,670,659 (GRCm39) probably null Het
Ubl7 T A 9: 57,821,894 (GRCm39) I81N probably damaging Het
Ugt1a10 A G 1: 87,983,433 (GRCm39) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,724,890 (GRCm39) C217R probably damaging Het
Usp50 T C 2: 126,603,554 (GRCm39) T331A probably benign Het
Vmn1r65 A G 7: 6,012,156 (GRCm39) V26A probably benign Het
Wdfy3 A C 5: 102,065,445 (GRCm39) V1241G possibly damaging Het
Wtap A C 17: 13,200,631 (GRCm39) probably null Het
Zbtb40 C A 4: 136,712,148 (GRCm39) A1187S possibly damaging Het
Zfp57 T C 17: 37,316,990 (GRCm39) S20P probably damaging Het
Zfp592 A G 7: 80,674,227 (GRCm39) D397G probably damaging Het
Zfp747 A T 7: 126,973,676 (GRCm39) S165T probably benign Het
Zfp949 C T 9: 88,451,891 (GRCm39) T487I probably damaging Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R 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
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
R3955:Sik3 UTSW 9 46,109,891 (GRCm39) missense probably damaging 1.00
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'- CACCTGTGAGGACATCAAGAGAGC -3'
(R):5'- ACACATTGAGGCTATGAGGGGCTG -3'

Sequencing Primer
(F):5'- TAACATCTGAAGGGCCTGCTG -3'
(R):5'- CTATGAGGGGCTGGCACTG -3'
Posted On 2014-03-14