Incidental Mutation 'R9017:Sik1'
ID 686101
Institutional Source Beutler Lab
Gene Symbol Sik1
Ensembl Gene ENSMUSG00000024042
Gene Name salt inducible kinase 1
Synonyms Snf1lk, Msk
MMRRC Submission 068847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9017 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 32063224-32074778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32070545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 100 (Y100C)
Ref Sequence ENSEMBL: ENSMUSP00000024839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024839]
AlphaFold Q60670
Predicted Effect probably damaging
Transcript: ENSMUST00000024839
AA Change: Y100C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024839
Gene: ENSMUSG00000024042
AA Change: Y100C

DomainStartEndE-ValueType
S_TKc 27 278 3.38e-103 SMART
low complexity region 456 467 N/A INTRINSIC
low complexity region 651 667 N/A INTRINSIC
Meta Mutation Damage Score 0.9086 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele and fed a high fat diet exhibit increased insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,211 (GRCm39) T629A probably benign Het
Afg3l2 A G 18: 67,542,550 (GRCm39) V632A possibly damaging Het
Ahnak G A 19: 8,987,487 (GRCm39) E2924K probably damaging Het
Ampd1 A G 3: 102,995,786 (GRCm39) Y232C probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Atp8b4 A T 2: 126,275,841 (GRCm39) N130K probably benign Het
Cdh15 T C 8: 123,584,256 (GRCm39) probably null Het
Cep70 T C 9: 99,181,829 (GRCm39) I613T possibly damaging Het
Cfap54 C T 10: 92,651,883 (GRCm39) V3056I probably benign Het
Chrna2 T C 14: 66,386,282 (GRCm39) F143L probably benign Het
Cmya5 C T 13: 93,228,572 (GRCm39) R2172H probably benign Het
Col17a1 T C 19: 47,657,898 (GRCm39) E424G probably benign Het
Crybg1 T C 10: 43,880,477 (GRCm39) E237G probably benign Het
Ctnnd2 G A 15: 30,881,316 (GRCm39) C732Y probably damaging Het
Dcaf12 T C 4: 41,299,411 (GRCm39) N264S probably benign Het
Dennd4c A G 4: 86,743,349 (GRCm39) S1064G probably benign Het
Dsc2 A T 18: 20,176,968 (GRCm39) Y360N probably damaging Het
E2f3 T G 13: 30,097,478 (GRCm39) D295A probably damaging Het
Eef2 T C 10: 81,015,487 (GRCm39) L336P possibly damaging Het
Fanca A G 8: 124,035,307 (GRCm39) S213P possibly damaging Het
Fpgt A T 3: 154,792,903 (GRCm39) S375T probably benign Het
Gad1 G A 2: 70,416,206 (GRCm39) V222I probably benign Het
Gm5930 A T 14: 44,568,858 (GRCm39) Y255N possibly damaging Het
Gpr55 T C 1: 85,868,624 (GRCm39) N319S probably benign Het
Grik2 T A 10: 48,989,555 (GRCm39) I825F possibly damaging Het
Hcn4 T C 9: 58,731,482 (GRCm39) S230P unknown Het
Kansl3 T C 1: 36,393,861 (GRCm39) I222V probably benign Het
Kif20b T C 19: 34,927,203 (GRCm39) S822P probably benign Het
Kremen2 T A 17: 23,964,737 (GRCm39) probably benign Het
Krt71 G T 15: 101,651,100 (GRCm39) R128S possibly damaging Het
Lrp4 A T 2: 91,324,397 (GRCm39) N1244I possibly damaging Het
Lrrc66 T C 5: 73,765,244 (GRCm39) S600G possibly damaging Het
Mrc2 T A 11: 105,216,711 (GRCm39) C167S probably damaging Het
Mrps17 T C 5: 129,793,857 (GRCm39) V17A probably damaging Het
Muc20 A T 16: 32,614,840 (GRCm39) L179Q unknown Het
Or13g1 A T 7: 85,955,957 (GRCm39) Y121* probably null Het
Or13p8 T A 4: 118,583,565 (GRCm39) F40L probably benign Het
Or4c29 G T 2: 88,739,951 (GRCm39) T262K probably damaging Het
Otop2 T C 11: 115,214,431 (GRCm39) F63L probably benign Het
Pde3b C T 7: 114,015,695 (GRCm39) Q304* probably null Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Plekhg4 A G 8: 106,105,332 (GRCm39) E599G possibly damaging Het
Ppargc1a C A 5: 51,630,251 (GRCm39) R622L unknown Het
Ppip5k2 A G 1: 97,655,139 (GRCm39) L879P probably damaging Het
Prepl C T 17: 85,376,366 (GRCm39) V563M possibly damaging Het
Prom1 G T 5: 44,204,870 (GRCm39) D201E probably damaging Het
Psmd1 T A 1: 86,054,231 (GRCm39) D723E probably damaging Het
Sall2 A T 14: 52,550,719 (GRCm39) N825K possibly damaging Het
Sds A T 5: 120,618,655 (GRCm39) M70L probably benign Het
Sema4c C T 1: 36,592,079 (GRCm39) R256H probably damaging Het
Slc13a5 T A 11: 72,138,588 (GRCm39) I452F probably damaging Het
Slc25a24 A G 3: 109,062,395 (GRCm39) I162V possibly damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tenm3 T A 8: 48,707,668 (GRCm39) N1710I probably damaging Het
Tmem115 T A 9: 107,411,880 (GRCm39) M68K probably benign Het
Tmem132d T C 5: 127,866,936 (GRCm39) I655V probably benign Het
Tmem132d T C 5: 128,346,316 (GRCm39) I69V probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Trim9 A G 12: 70,314,013 (GRCm39) M544T probably benign Het
Ttll3 G A 6: 113,389,850 (GRCm39) R745H probably benign Het
Ttn G T 2: 76,737,931 (GRCm39) L4249I unknown Het
Unc79 G A 12: 103,074,874 (GRCm39) probably null Het
Vmn1r196 T C 13: 22,478,254 (GRCm39) C298R probably benign Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Zfp853 A G 5: 143,274,243 (GRCm39) L474P unknown Het
Other mutations in Sik1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4131001:Sik1 UTSW 17 32,070,305 (GRCm39) missense probably damaging 1.00
R0025:Sik1 UTSW 17 32,066,249 (GRCm39) splice site probably benign
R0371:Sik1 UTSW 17 32,067,958 (GRCm39) missense probably benign 0.10
R0452:Sik1 UTSW 17 32,068,055 (GRCm39) missense possibly damaging 0.86
R0465:Sik1 UTSW 17 32,073,996 (GRCm39) missense possibly damaging 0.48
R1274:Sik1 UTSW 17 32,065,549 (GRCm39) missense possibly damaging 0.72
R2057:Sik1 UTSW 17 32,067,771 (GRCm39) missense probably benign 0.00
R2058:Sik1 UTSW 17 32,067,771 (GRCm39) missense probably benign 0.00
R2059:Sik1 UTSW 17 32,067,771 (GRCm39) missense probably benign 0.00
R2367:Sik1 UTSW 17 32,065,271 (GRCm39) missense possibly damaging 0.87
R3114:Sik1 UTSW 17 32,067,106 (GRCm39) missense probably benign 0.01
R4629:Sik1 UTSW 17 32,068,581 (GRCm39) missense probably benign 0.10
R5638:Sik1 UTSW 17 32,069,802 (GRCm39) missense probably damaging 1.00
R5872:Sik1 UTSW 17 32,069,125 (GRCm39) missense probably damaging 1.00
R6149:Sik1 UTSW 17 32,067,771 (GRCm39) missense possibly damaging 0.54
R6303:Sik1 UTSW 17 32,065,270 (GRCm39) missense probably damaging 0.97
R6853:Sik1 UTSW 17 32,073,180 (GRCm39) critical splice donor site probably null
R7170:Sik1 UTSW 17 32,067,746 (GRCm39) missense possibly damaging 0.89
R7225:Sik1 UTSW 17 32,073,274 (GRCm39) missense probably benign 0.00
R7893:Sik1 UTSW 17 32,069,020 (GRCm39) missense probably benign 0.00
R8217:Sik1 UTSW 17 32,070,286 (GRCm39) missense probably damaging 1.00
R8912:Sik1 UTSW 17 32,069,919 (GRCm39) missense possibly damaging 0.83
R9166:Sik1 UTSW 17 32,069,727 (GRCm39) missense probably damaging 1.00
R9221:Sik1 UTSW 17 32,066,167 (GRCm39) missense probably benign 0.24
R9610:Sik1 UTSW 17 32,073,246 (GRCm39) missense probably damaging 1.00
R9611:Sik1 UTSW 17 32,073,246 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTGCCCGTTGGAAGTCAG -3'
(R):5'- CCCAAGGTGTTTAAAGTTGCTTC -3'

Sequencing Primer
(F):5'- TGCCCGTTGGAAGTCAGATAATC -3'
(R):5'- CAAGGTGTTTAAAGTTGCTTCTCTGG -3'
Posted On 2021-10-11