Incidental Mutation 'R0034:Sgk3'
ID15417
Institutional Source Beutler Lab
Gene Symbol Sgk3
Ensembl Gene ENSMUSG00000025915
Gene Nameserum/glucocorticoid regulated kinase 3
Synonyms2510015P22Rik, cytokine-independent survival kinase, fy, Cisk, A330005P07Rik
MMRRC Submission 038328-MU
Accession Numbers

Genbank: NM_133220; MGI: 2182368

Is this an essential gene? Possibly non essential (E-score: 0.308) question?
Stock #R0034 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location9798107-9900845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9885677 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 301 (V301A)
Ref Sequence ENSEMBL: ENSMUSP00000140318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097826] [ENSMUST00000166384] [ENSMUST00000168907] [ENSMUST00000171265] [ENSMUST00000188298] [ENSMUST00000188738] [ENSMUST00000188782]
Predicted Effect probably damaging
Transcript: ENSMUST00000097826
AA Change: V301A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: V301A

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 damaging
Transcript: ENSMUST00000166384
AA Change: V301A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: V301A

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 damaging
Transcript: ENSMUST00000168907
AA Change: V301A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: V301A

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 damaging
Transcript: ENSMUST00000171265
AA Change: V301A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: V301A

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 probably damaging
Transcript: ENSMUST00000188738
AA Change: V301A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: V301A

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 333 2.1e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188782
AA Change: V301A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: V301A

DomainStartEndE-ValueType
PX 13 120 2.4e-21 SMART
S_TKc 162 343 4.3e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191338
Meta Mutation Damage Score 0.1146 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 64.3%
  • 10x: 35.1%
  • 20x: 16.8%
Validation Efficiency 87% (59/68)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,736,572 H664R probably damaging Het
Asns G A 6: 7,676,299 P419L probably damaging Het
Cep152 C T 2: 125,583,893 A851T probably benign Het
Chrna7 T G 7: 63,148,606 K109N possibly damaging Het
Farp1 A G 14: 121,255,429 H481R probably benign Het
Kif9 G A 9: 110,519,611 C738Y probably benign Het
Klf12 A G 14: 99,987,429 probably null Het
Ltbp1 T A 17: 75,047,568 probably benign Het
Map2k4 A G 11: 65,719,611 probably benign Het
Nat8f5 C A 6: 85,817,886 A31S probably benign Het
Plb1 G T 5: 32,273,113 G138V probably benign Het
Plcz1 A T 6: 140,020,448 probably benign Het
Poln A C 5: 34,115,418 V398G possibly damaging Het
Ppp2r2c A G 5: 36,927,539 I115V probably benign Het
Rapgef1 C A 2: 29,724,768 probably benign Het
Rbm43 A T 2: 51,925,710 D166E probably benign Het
Trap1 A T 16: 4,069,030 probably benign Het
Trim14 A G 4: 46,523,627 L137P probably damaging Het
Tsku T C 7: 98,352,663 T154A possibly damaging Het
Usp50 T C 2: 126,777,975 E139G possibly damaging Het
Zfp949 A T 9: 88,567,640 probably benign Het
Zscan20 T C 4: 128,585,662 N1012S probably 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
IGL02803:Sgk3 APN 1 9879048 missense possibly damaging 0.76
woolly UTSW 1 9886104 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
Posted On2012-12-17