Incidental Mutation 'R7665:Sgk1'
ID 591872
Institutional Source Beutler Lab
Gene Symbol Sgk1
Ensembl Gene ENSMUSG00000019970
Gene Name serum/glucocorticoid regulated kinase 1
Synonyms Sgk, Sgk1
MMRRC Submission 045739-MU
Accession Numbers

Ncbi RefSeq: NM_001161845.2, NM_001161847.2, NM_001161848.2, NM_001161849.2, NM_001161850.2, NM_011361.3; MGI:1340062

Essential gene? Non essential (E-score: 0.000) question?
Stock # R7665 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 21882184-21999903 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21996662 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 311 (I311T)
Ref Sequence ENSEMBL: ENSMUSP00000114074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020145] [ENSMUST00000092673] [ENSMUST00000100036] [ENSMUST00000120509] [ENSMUST00000124350] [ENSMUST00000142174] [ENSMUST00000150089] [ENSMUST00000164659]
AlphaFold Q9WVC6
Predicted Effect probably damaging
Transcript: ENSMUST00000020145
AA Change: I218T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020145
Gene: ENSMUSG00000019970
AA Change: I218T

DomainStartEndE-ValueType
Blast:S_TKc 36 72 4e-10 BLAST
low complexity region 73 80 N/A INTRINSIC
S_TKc 98 355 6.15e-106 SMART
S_TK_X 356 425 2.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092673
AA Change: I232T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090343
Gene: ENSMUSG00000019970
AA Change: I232T

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
Blast:S_TKc 50 86 5e-10 BLAST
low complexity region 87 94 N/A INTRINSIC
S_TKc 112 369 6.15e-106 SMART
S_TK_X 370 439 2.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100036
AA Change: I204T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097614
Gene: ENSMUSG00000019970
AA Change: I204T

DomainStartEndE-ValueType
Blast:S_TKc 22 58 5e-10 BLAST
low complexity region 59 66 N/A INTRINSIC
S_TKc 84 341 6.15e-106 SMART
S_TK_X 342 411 2.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120509
AA Change: I311T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: I311T

DomainStartEndE-ValueType
Blast:S_TKc 129 165 1e-9 BLAST
low complexity region 166 173 N/A INTRINSIC
S_TKc 191 448 6.15e-106 SMART
S_TK_X 449 518 2.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124350
AA Change: I191T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114691
Gene: ENSMUSG00000019970
AA Change: I191T

DomainStartEndE-ValueType
Blast:S_TKc 9 45 2e-12 BLAST
low complexity region 46 53 N/A INTRINSIC
Pfam:Pkinase 71 266 3.2e-62 PFAM
Pfam:Pkinase_Tyr 71 266 4.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142174
SMART Domains Protein: ENSMUSP00000120882
Gene: ENSMUSG00000019970

DomainStartEndE-ValueType
Blast:S_TKc 9 45 3e-14 BLAST
PDB:3HDN|A 33 82 7e-18 PDB
SCOP:d1koba_ 43 82 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150089
SMART Domains Protein: ENSMUSP00000115073
Gene: ENSMUSG00000019970

DomainStartEndE-ValueType
Blast:S_TKc 22 58 4e-14 BLAST
PDB:3HDN|A 46 89 3e-13 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000164659
AA Change: I191T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128873
Gene: ENSMUSG00000019970
AA Change: I191T

DomainStartEndE-ValueType
Blast:S_TKc 9 45 5e-10 BLAST
low complexity region 46 53 N/A INTRINSIC
S_TKc 71 328 6.15e-106 SMART
S_TK_X 329 398 2.51e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (72/72)
MGI Phenotype Strain: 3846797; 2445418
FUNCTION: This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. This enzyme is activated by protein phosphorylation and degraded via the ubiquitination and proteasome pathway. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 12. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display an essentially normal phenotype. Sodium retention is compromised on a low salt diet. [provided by MGI curators]
Allele List at MGI

All alleles(143) : Targeted(6) Gene trapped(137)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A G 5: 114,874,323 (GRCm38) probably null Het
A830018L16Rik T C 1: 11,972,099 (GRCm38) S448P probably damaging Het
Abca4 C T 3: 122,044,490 (GRCm38) probably benign Het
Ackr2 A G 9: 121,909,308 (GRCm38) M250V probably benign Het
Actn4 A G 7: 28,916,207 (GRCm38) I147T probably damaging Het
Adgrv1 C T 13: 81,499,142 (GRCm38) S3093N probably damaging Het
Arid5b C T 10: 68,098,587 (GRCm38) G495E probably benign Het
Armh1 C A 4: 117,213,741 (GRCm38) A396S probably benign Het
Brwd1 G A 16: 96,041,343 (GRCm38) T798M probably benign Het
Cdk13 G A 13: 17,772,553 (GRCm38) T540I possibly damaging Het
Cdkn1c A G 7: 143,460,634 (GRCm38) V25A possibly damaging Het
Col2a1 T C 15: 97,976,700 (GRCm38) E1420G unknown Het
Dbf4 G A 5: 8,397,867 (GRCm38) P448S probably damaging Het
Dnajb7 T C 15: 81,407,419 (GRCm38) N239S probably benign Het
Dnttip1 A G 2: 164,754,141 (GRCm38) D102G probably damaging Het
Dpp8 T A 9: 65,078,718 (GRCm38) V830D probably damaging Het
Eef1g T C 19: 8,968,289 (GRCm38) V29A probably benign Het
Enpp2 T A 15: 54,839,394 (GRCm38) Y906F probably damaging Het
Epb41l4a A G 18: 34,006,016 (GRCm38) L23P possibly damaging Het
Epp13 G A 7: 6,269,892 (GRCm38) probably null Het
Exoc1 T A 5: 76,543,573 (GRCm38) M248K probably benign Het
Fam83b T C 9: 76,490,875 (GRCm38) Y982C probably damaging Het
Fat4 C T 3: 38,889,178 (GRCm38) A740V probably benign Het
Fsip2 T A 2: 82,981,805 (GRCm38) S2823T probably benign Het
Gckr T C 5: 31,297,555 (GRCm38) Het
Gpr150 A T 13: 76,055,974 (GRCm38) V284E probably damaging Het
Grtp1 T G 8: 13,177,103 (GRCm38) I344L probably benign Het
Heatr5a T A 12: 51,961,530 (GRCm38) N10I probably damaging Het
Herc2 C A 7: 56,153,155 (GRCm38) L2109I probably damaging Het
Hs1bp3 T A 12: 8,317,935 (GRCm38) D61E probably damaging Het
Ifit1bl1 T A 19: 34,594,883 (GRCm38) Y58F probably benign Het
Itfg1 A G 8: 85,764,350 (GRCm38) F317L probably benign Het
Itsn1 T C 16: 91,841,603 (GRCm38) I764T unknown Het
Med8 A C 4: 118,411,656 (GRCm38) probably null Het
Mpeg1 C A 19: 12,463,094 (GRCm38) P639T probably damaging Het
Nedd9 A G 13: 41,316,309 (GRCm38) L456P probably benign Het
Neo1 A G 9: 58,925,795 (GRCm38) S556P probably damaging Het
Nphp3 T A 9: 104,005,393 (GRCm38) probably null Het
Nup205 T C 6: 35,177,620 (GRCm38) V53A possibly damaging Het
Nvl A T 1: 181,134,944 (GRCm38) S154T probably benign Het
Olfr239 G T 17: 33,199,629 (GRCm38) G194* probably null Het
Olfr391-ps A T 11: 73,798,961 (GRCm38) N265K probably benign Het
Olfr615 A T 7: 103,561,316 (GRCm38) I280F probably benign Het
Olfr706 A T 7: 106,886,673 (GRCm38) V48D possibly damaging Het
Olfr827 T A 10: 130,211,261 (GRCm38) probably null Het
Olfr92 A G 17: 37,111,391 (GRCm38) M197T probably benign Het
Parvg T C 15: 84,337,801 (GRCm38) I243T probably damaging Het
Paxip1 T A 5: 27,765,738 (GRCm38) M538L unknown Het
Pgghg G T 7: 140,945,469 (GRCm38) D428Y probably damaging Het
Pik3cd C T 4: 149,654,050 (GRCm38) V777M possibly damaging Het
Plcl2 A C 17: 50,607,157 (GRCm38) K398T probably benign Het
Plxna1 A T 6: 89,324,538 (GRCm38) probably null Het
Rbbp6 T C 7: 122,994,686 (GRCm38) Y514H possibly damaging Het
Rbbp6 T A 7: 122,990,032 (GRCm38) probably null Het
Scin T A 12: 40,069,415 (GRCm38) N538I probably damaging Het
Sdcbp A G 4: 6,385,144 (GRCm38) D121G probably benign Het
Shq1 A C 6: 100,573,756 (GRCm38) L407W probably damaging Het
Sipa1 A T 19: 5,651,671 (GRCm38) S979T probably benign Het
Slc25a37 G T 14: 69,249,579 (GRCm38) T85K probably benign Het
Soga3 T A 10: 29,196,397 (GRCm38) Y562N probably damaging Het
Spag9 A T 11: 94,013,654 (GRCm38) Q112L probably damaging Het
Spg11 A T 2: 122,066,267 (GRCm38) V1686E probably damaging Het
Stap2 A G 17: 55,997,909 (GRCm38) V291A probably benign Het
Tnk2 C T 16: 32,680,526 (GRCm38) R886C probably damaging Het
Tnrc6c T A 11: 117,720,951 (GRCm38) D138E possibly damaging Het
Unc13c A G 9: 73,680,474 (GRCm38) S1426P probably benign Het
Vav1 G A 17: 57,297,086 (GRCm38) V163M probably damaging Het
Vmn2r67 T A 7: 85,151,988 (GRCm38) K247* probably null Het
Zc2hc1c T C 12: 85,296,562 (GRCm38) V491A possibly damaging Het
Zfp51 A G 17: 21,463,581 (GRCm38) T153A probably benign Het
Zyx A G 6: 42,356,162 (GRCm38) E374G probably damaging Het
Other mutations in Sgk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Sgk1 APN 10 21,995,541 (GRCm38) missense probably damaging 1.00
IGL02670:Sgk1 APN 10 21,928,546 (GRCm38) missense probably benign
IGL03220:Sgk1 APN 10 21,997,391 (GRCm38) missense probably null 1.00
R0010:Sgk1 UTSW 10 21,997,438 (GRCm38) critical splice donor site probably null
R0010:Sgk1 UTSW 10 21,997,438 (GRCm38) critical splice donor site probably null
R0467:Sgk1 UTSW 10 21,996,358 (GRCm38) splice site probably benign
R0479:Sgk1 UTSW 10 21,996,310 (GRCm38) missense probably benign 0.00
R0650:Sgk1 UTSW 10 21,882,657 (GRCm38) missense probably damaging 0.98
R0652:Sgk1 UTSW 10 21,882,657 (GRCm38) missense probably damaging 0.98
R0688:Sgk1 UTSW 10 21,998,160 (GRCm38) missense probably benign
R0990:Sgk1 UTSW 10 21,997,086 (GRCm38) missense probably damaging 1.00
R1769:Sgk1 UTSW 10 21,997,108 (GRCm38) splice site probably benign
R2009:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R2218:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R2314:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R2909:Sgk1 UTSW 10 21,994,816 (GRCm38) missense probably benign
R2915:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R3176:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R3177:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R3276:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R3277:Sgk1 UTSW 10 21,996,601 (GRCm38) missense probably damaging 1.00
R3802:Sgk1 UTSW 10 21,997,412 (GRCm38) missense probably damaging 1.00
R5974:Sgk1 UTSW 10 21,996,249 (GRCm38) missense probably damaging 1.00
R6943:Sgk1 UTSW 10 21,882,694 (GRCm38) missense probably damaging 0.99
R7360:Sgk1 UTSW 10 21,994,073 (GRCm38) missense probably benign 0.01
R7425:Sgk1 UTSW 10 21,994,110 (GRCm38) missense probably damaging 0.97
R7973:Sgk1 UTSW 10 21,994,155 (GRCm38) missense probably benign 0.01
R8252:Sgk1 UTSW 10 21,997,399 (GRCm38) missense probably damaging 1.00
R8855:Sgk1 UTSW 10 21,995,827 (GRCm38) missense probably benign 0.12
R9199:Sgk1 UTSW 10 21,882,659 (GRCm38) missense probably damaging 0.99
R9492:Sgk1 UTSW 10 21,998,197 (GRCm38) missense probably damaging 0.97
R9670:Sgk1 UTSW 10 21,992,391 (GRCm38) frame shift probably null
R9683:Sgk1 UTSW 10 21,992,391 (GRCm38) frame shift probably null
R9723:Sgk1 UTSW 10 21,996,340 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGGCCACTTCCTTCAAG -3'
(R):5'- TGTTCCACAGCCAATCACAG -3'

Sequencing Primer
(F):5'- AAGCTTTCTCTTTCGGGCCTG -3'
(R):5'- GGCTGTTAGGATTATGCACCACC -3'
Posted On 2019-11-12