Incidental Mutation 'IGL02803:Sgk3'
ID 360287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgk3
Ensembl Gene ENSMUSG00000025915
Gene Name serum/glucocorticoid regulated kinase 3
Synonyms 2510015P22Rik, cytokine-independent survival kinase, fy, Cisk, A330005P07Rik
Accession Numbers

Genbank: NM_133220; MGI: 2182368
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # IGL02803
Quality Score
Status
Chromosome 1
Chromosomal Location 9798107-9900845 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9879048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 147 (I147T)
Ref Sequence ENSEMBL: ENSMUSP00000140496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097826] [ENSMUST00000166384] [ENSMUST00000168907] [ENSMUST00000171265] [ENSMUST00000188298] [ENSMUST00000188738] [ENSMUST00000188782]
AlphaFold Q9ERE3
Predicted Effect possibly damaging
Transcript: ENSMUST00000097826
AA Change: I147T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166384
AA Change: I147T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168907
AA Change: I147T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171265
AA Change: I147T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 3.9e-19 SMART
S_TKc 162 419 1.07e-105 SMART
S_TK_X 420 489 1.96e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188298
SMART Domains Protein: ENSMUSP00000139942
Gene: ENSMUSG00000025915

DomainStartEndE-ValueType
Pfam:PX 11 66 4.5e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188738
AA Change: I147T

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 333 2.1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188782
AA Change: I147T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: I147T

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 343 4.3e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191338
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene result in wavy vibrissae and coat/ hair abnormalities, including sparse and waved hair, due to impaired hair follicle development and/or hair cycle defects. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted, knock-out(2) Gene trapped(7) Spontaneous(7)
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,252,481 L106F probably benign Het
Appl1 A G 14: 26,951,516 I208T possibly damaging Het
Arap2 G T 5: 62,749,109 A189D probably benign Het
Arhgef12 T C 9: 42,972,028 K1402E possibly damaging Het
C7 A C 15: 5,049,560 F89V probably damaging Het
Camsap2 G A 1: 136,281,123 T877I probably damaging Het
Cpt2 T C 4: 107,907,386 T394A probably benign Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnah10 C A 5: 124,798,014 T2528N probably damaging Het
Entpd8 G T 2: 25,085,139 W494L probably damaging Het
Fam114a1 T A 5: 65,005,792 probably benign Het
Fat4 T C 3: 38,889,295 V779A probably damaging Het
Gckr T C 5: 31,298,204 S34P probably damaging Het
Golga4 T C 9: 118,535,460 V297A probably benign Het
Gpr65 T C 12: 98,275,210 S41P probably damaging Het
Gps1 G T 11: 120,786,823 A221S probably damaging Het
Heatr1 T A 13: 12,433,986 S1861T probably damaging Het
Hmces A G 6: 87,925,729 E184G probably damaging Het
Itfg1 T C 8: 85,725,511 probably null Het
Mkl2 C T 16: 13,403,156 T743I possibly damaging Het
Nfe2l3 A G 6: 51,457,311 S284G possibly damaging Het
Nlrp2 C A 7: 5,328,318 A360S probably damaging Het
Nop9 A G 14: 55,750,076 H298R probably benign Het
Olfr1434 A T 19: 12,283,983 S312C possibly damaging Het
Olfr183 T A 16: 58,999,958 V91E probably benign Het
Olfr522 T C 7: 140,162,374 D192G possibly damaging Het
Osgin1 A G 8: 119,443,267 M158V probably benign Het
Patj C A 4: 98,426,064 Q374K probably damaging Het
Pck1 G T 2: 173,156,004 G289W probably damaging Het
Phkg1 T G 5: 129,866,054 I219L possibly damaging Het
Ppp1r15b G A 1: 133,133,343 A533T probably damaging Het
Ppwd1 T C 13: 104,213,684 I398V probably benign Het
Prkdc A G 16: 15,833,666 probably benign Het
Psg25 G A 7: 18,526,287 L229F possibly damaging Het
Rps6ka1 T A 4: 133,880,954 Q24L probably benign Het
Slc25a24 T A 3: 109,155,071 I159N probably damaging Het
Slc26a4 T C 12: 31,522,527 probably null Het
Slc35f4 T C 14: 49,304,257 I347V probably benign Het
Spag17 A T 3: 100,109,397 M2163L probably benign Het
Stab2 C T 10: 86,950,269 probably benign Het
Sult2a8 G A 7: 14,411,705 probably benign Het
Syne2 T C 12: 76,031,546 L4718P probably damaging Het
Timd4 G T 11: 46,815,694 G108W probably damaging Het
Timm9 T C 12: 71,126,374 probably benign Het
Vmn2r98 G A 17: 19,066,013 V258I probably benign Het
Zcchc9 C T 13: 91,800,881 V174I probably benign Het
Zdbf2 T C 1: 63,303,077 V205A possibly damaging Het
Other mutations in Sgk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Sgk3 APN 1 9868384 missense probably damaging 1.00
IGL00906:Sgk3 APN 1 9877245 missense probably benign 0.00
IGL01683:Sgk3 APN 1 9881866 missense probably damaging 1.00
woolly UTSW 1 9886104 missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9885677 missense probably damaging 1.00
R0034:Sgk3 UTSW 1 9885677 missense probably damaging 1.00
R0374:Sgk3 UTSW 1 9879081 splice site probably null
R0526:Sgk3 UTSW 1 9881579 missense probably damaging 1.00
R1483:Sgk3 UTSW 1 9872293 missense possibly damaging 0.80
R1992:Sgk3 UTSW 1 9880342 missense possibly damaging 0.52
R2073:Sgk3 UTSW 1 9891424 missense probably benign 0.01
R4590:Sgk3 UTSW 1 9898795 missense possibly damaging 0.94
R5436:Sgk3 UTSW 1 9881872 missense probably damaging 1.00
R5511:Sgk3 UTSW 1 9898686 intron probably benign
R5623:Sgk3 UTSW 1 9802295 intron probably benign
R5936:Sgk3 UTSW 1 9885820 intron probably benign
R6778:Sgk3 UTSW 1 9886144 critical splice donor site probably null
R6842:Sgk3 UTSW 1 9898754 missense probably benign
R7055:Sgk3 UTSW 1 9886059 missense probably damaging 1.00
R7186:Sgk3 UTSW 1 9886002 missense probably benign 0.00
R7336:Sgk3 UTSW 1 9884476 missense possibly damaging 0.88
R7429:Sgk3 UTSW 1 9872258 missense probably benign 0.00
R7430:Sgk3 UTSW 1 9872258 missense probably benign 0.00
R7787:Sgk3 UTSW 1 9881791 missense probably damaging 1.00
R8949:Sgk3 UTSW 1 9868474 splice site probably benign
R9269:Sgk3 UTSW 1 9872309 missense probably benign 0.41
R9487:Sgk3 UTSW 1 9880391 critical splice donor site probably null
Posted On 2015-12-18