Incidental Mutation 'R1497:Sik3'
ID 168964
Institutional Source Beutler Lab
Gene Symbol Sik3
Ensembl Gene ENSMUSG00000034135
Gene Name SIK family kinase 3
Synonyms 9030204A07Rik, 5730525O22Rik
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45924118-46135492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46113320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 587 (V587E)
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: V491E
SMART Domains Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: V491E

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: V585E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: V585E

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: V489E
SMART Domains Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: V489E

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: V587E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: V587E

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 0.2343 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y 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
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'- GAACAAGCACATGCCTGTGAACAAG -3'
(R):5'- AGTGTTGAAGCTGCACTGCACC -3'

Sequencing Primer
(F):5'- GATATAGCACCTGAGCCCGATG -3'
(R):5'- ACCACCTCCCTGGGCAG -3'
Posted On 2014-04-13