Incidental Mutation 'R5985:Sik3'
ID 481616
Institutional Source Beutler Lab
Gene Symbol Sik3
Ensembl Gene ENSMUSG00000034135
Gene Name SIK family kinase 3
Synonyms 9030204A07Rik, 5730525O22Rik
MMRRC Submission 044165-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5985 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45924118-46135492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46122973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 874 (N874S)
Ref Sequence ENSEMBL: ENSMUSP00000112749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120463] [ENSMUST00000126865]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000120247
SMART Domains Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135

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: N874S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: N874S

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 benign
Transcript: ENSMUST00000126865
AA Change: N924S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: N924S

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 0.1349 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,241,628 (GRCm39) I1164L probably benign Het
Actn1 C A 12: 80,215,169 (GRCm39) G864V probably damaging Het
Adgrf1 T C 17: 43,604,146 (GRCm39) I34T probably benign Het
Ankrd10 T A 8: 11,669,077 (GRCm39) K225* probably null Het
Ankrd29 G A 18: 12,412,832 (GRCm39) A115V probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg2a A G 19: 6,304,667 (GRCm39) T1175A probably damaging Het
Atp12a A G 14: 56,621,798 (GRCm39) D781G probably damaging Het
B4galnt3 G A 6: 120,187,119 (GRCm39) P759S probably damaging Het
Card10 T C 15: 78,675,411 (GRCm39) I448V probably benign Het
Col15a1 T C 4: 47,284,507 (GRCm39) F821L probably damaging Het
Cpeb3 T C 19: 37,064,952 (GRCm39) Y498C probably damaging Het
Defb37 A T 8: 19,036,347 (GRCm39) C58S probably damaging Het
Faap20 T C 4: 155,334,797 (GRCm39) probably benign Het
Frem1 C T 4: 82,884,287 (GRCm39) V1204I probably benign Het
Gal3st2 T C 1: 93,801,335 (GRCm39) V46A possibly damaging Het
Gan C T 8: 117,922,557 (GRCm39) S430L possibly damaging Het
Gas2 T A 7: 51,593,424 (GRCm39) I168K probably damaging Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gm3898 G A 9: 43,741,329 (GRCm39) noncoding transcript Het
Gria4 T C 9: 4,503,593 (GRCm39) Q341R probably damaging Het
Herpud1 G A 8: 95,117,422 (GRCm39) R2Q probably damaging Het
Klf15 G A 6: 90,443,703 (GRCm39) G93R possibly damaging Het
Mtmr7 A G 8: 41,004,873 (GRCm39) F568L probably benign Het
Myod1 A G 7: 46,027,222 (GRCm39) Y229C probably damaging Het
Or12e14 A G 2: 87,187,949 (GRCm39) I54V probably benign Het
Or5l13 A G 2: 87,779,665 (GRCm39) M304T probably benign Het
Phf11b A G 14: 59,559,027 (GRCm39) L235P possibly damaging Het
Pira1 C A 7: 3,740,316 (GRCm39) G302C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Prox1 A T 1: 189,879,152 (GRCm39) F675L possibly damaging Het
Rnf144a C T 12: 26,367,779 (GRCm39) E176K probably benign Het
Safb2 T C 17: 56,870,181 (GRCm39) E965G possibly damaging Het
Slitrk3 T C 3: 72,958,233 (GRCm39) I180V probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Spns1 G A 7: 125,975,902 (GRCm39) T84I probably benign Het
Syne2 C G 12: 76,012,933 (GRCm39) P2709R probably damaging Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Terb1 A G 8: 105,208,948 (GRCm39) S377P probably damaging Het
Tph1 A G 7: 46,303,205 (GRCm39) Y258H probably damaging Het
Trip12 T A 1: 84,703,492 (GRCm39) E1881D probably damaging Het
Trpc7 A G 13: 56,958,358 (GRCm39) L412P probably damaging Het
Ttll13 C T 7: 79,904,386 (GRCm39) A337V probably damaging Het
Ugt2b1 T C 5: 87,067,527 (GRCm39) K344E possibly damaging Het
Vmn1r36 T A 6: 66,693,855 (GRCm39) I7F probably benign Het
Vmn2r14 A T 5: 109,368,082 (GRCm39) N303K possibly damaging Het
Vmn2r25 A G 6: 123,800,587 (GRCm39) V585A probably benign Het
Zan A C 5: 137,444,299 (GRCm39) probably null Het
Zfp423 A T 8: 88,508,774 (GRCm39) N502K possibly damaging Het
Zfp473 C T 7: 44,382,752 (GRCm39) R526Q 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
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
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'- ACATGCCCAGTGCCTTATGG -3'
(R):5'- TGATGAGCTGTGCAAACTCTG -3'

Sequencing Primer
(F):5'- GGCTCTTCAAAAACTTGGATGAGC -3'
(R):5'- AGCCGAATGTCCGAGTGG -3'
Posted On 2017-06-26